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Gene Attribute
Gene Similarity
Attribute Similarity
UMAP
15709 sets of genes associated with diseases in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Gene Set | Description |
|---|---|
| (Idiopathic) Normal Pressure Hydrocephalus | |
| (Non-Specific) Purulent Meningitis | |
| 11-Beta-Hydroxylase Deficiency | |
| 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency | |
| 12P12.1 Microdeletion Syndrome | |
| 14Q11.2 Microduplication Syndrome | |
| 14Q12 Microdeletion Syndrome | |
| 15Q Overgrowth Syndrome | |
| 15Q24 Microdeletion | |
| 16Q24.3 Microdeletion Syndrome | |
| 17,20-Desmolase Deficiency | |
| 17,20-Lyase Deficiency, Isolated | |
| 17-Alpha-Hydroxylase/17,20 Lyase Deficiency | |
| 17-Hydroxysteroid Dehydrogenase Deficiency | |
| 17Q12 Microdeletion Syndrome | |
| 1P31P32 Microdeletion Syndrome | |
| 1Q41Q42 Microdeletion Syndrome | |
| 1Q44 Microdeletion Syndrome | |
| 2,4-Dienoyl-Coa Reductase Deficiency | |
| 2,8-Dihydroxyadenine Urolithiasis | |
| 2-Aminoadipic 2-Oxoadipic Aciduria | |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency | |
| 2-Methylbutyrylglycinuria | |
| 20P12.3 Microdeletion Syndrome | |
| 21-Hydroxylase Deficiency | |
| 22Q11 Deletion Syndrome | |
| 22Q11 Partial Monosomy Syndrome | |
| 22Q13.3 Deletion Syndrome | |
| 2P21 Microdeletion Syndrome | |
| 2P21 Microdeletion Syndrome Without Cystinuria | |
| 2Q23.1 Microdeletion Syndrome | |
| 2Q32Q33 Microdeletion Syndrome | |
| 2Q33.1 Microdeletion Syndrome | |
| 3 Beta-Hydroxysteroid Dehydrogenase Deficiency | |
| 3-Beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency | |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency | |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | |
| 3-Hydroxyisobutyric Aciduria | |
| 3-Methylcrotonyl Coa Carboxylase 1 Deficiency | |
| 3-Methylcrotonyl Coa Carboxylase 2 Deficiency | |
| 3-Methylglutaconic Aciduria | |
| 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome | |
| 3-Phosphoglycerate Dehydrogenase Deficiency | |
| 3C Syndrome | 3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome. |
| 46, Xx Disorders Of Sex Development | |
| 46, Xx Sex Reversal | |
| 46, Xx True Hermaphrodite | |
| 46, Xy Disorders Of Sex Development | |
| 46, Xy Female | |
| 46, Xy Sex Reversal | |
| 46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related | |
| 46,Xy Gonadal Dysgenesis, Complete, Sry-Related | |
| 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy | |
| 46,Xy Partial Gonadal Dysgenesis | |
| 46,Xy True Hermaphroditism, Sry-Related | |
| 47, Xyy Syndrome | |
| 4Q Partial Monosomy Syndrome | |
| 5,10-Methylenetetrahydrofolate Reductase Deficiency | |
| 5-Alpha Reductase Deficiency | |
| 5-Oxoprolinase Deficiency | |
| 5P13 Microduplication Syndrome | |
| 5Q-Syndrome | |
| 5Q14.3 Microdeletion Syndrome | |
| 5Q35 Microduplication Syndrome | |
| 6 Alpha Mercaptopurine Sensitivity | |
| 6-Phosphogluconolactonase Deficiency | |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | |
| 6Q Terminal Deletion Syndrome | |
| 6Q24-Related Transient Neonatal Diabetes Mellitus | |
| 6Q25 Microdeletion Syndrome | |
| 7-Dehydrocholesterol Reductase Deficiency | |
| 7Q31 Microdeletion Syndrome | |
| 8P11.2 Deletion Syndrome | |
| 9P Partial Monosomy Syndrome | |
| 9Q22.3 Microdeletion | |
| Aa Amyloidosis | |
| Aarskog Syndrome | |
| Aase Smith Syndrome 2 | |
| Aase Syndrome | |
| Abcd Syndrome | An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). |
| Abdominal Abscess | |
| Abdominal Adhesions | |
| Abdominal Aortic Atherosclerosis | |
| Abdominal Cocoon | |
| Abdominal Compartment Syndrome | |
| Abdominal Cryptorchidism | |
| Abdominal Migraine | |
| Abdominal Obesity Metabolic Syndrome | |
| Abdominal Obesity-Metabolic Syndrome 1 | |
| Abdominal Obesity-Metabolic Syndrome 3 | |
| Abdominal Sepsis | |
| Abdominal Tuberculosis | An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. |
| Abducens Nerve Palsy | |
| Aberrant Right Subclavian Artery | |
| Abetalipoproteinemia | A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). |
| Ablepharon | Absent eyelids. |
| Ablepharon-Macrostomia Syndrome | |
| Abnormal Adipose Tissue Morphology | any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue |
| Abnormal Aortic Morphology | |
| Abnormal Aortic Valve Physiology | |
| Abnormal Axonemal Organization Of Respiratory Motile Cilia | Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms. |
| Abnormal B Cell Morphology | any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens |
| Abnormal Bone Formation | |
| Abnormal Bone Ossification | Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| Abnormal Bone Structure | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| Abnormal Brain Fdg Positron Emission Tomography | |
| Abnormal Cardiac Ventricle Morphology | |
| Abnormal Carotid Artery Morphology | any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid |
| Abnormal Cartilage Collagen | Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. |
| Abnormal Cerebral Artery Morphology | |
| Abnormal Chorioretinal Morphology | |
| Abnormal Choroid Morphology | |
| Abnormal Ciliary Motility | Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. |
| Abnormal Circulating Renin | |
| Abnormal Cns Myelination | An abnormality of myelination of nerves in the central nervous system. |
| Abnormal Cochlea Morphology | any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound |
| Abnormal Conjunctiva Morphology | any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball |
| Abnormal Corneal Endothelium Morphology | any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea |
| Abnormal Cortical Bone Morphology | An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. |
| Abnormal Dermatoglyphic Pattern | |
| Abnormal Diaphysis Morphology | An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. |
| Abnormal Drinking Behavior | Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. |
| Abnormal Enchondral Ossification | An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. |
| Abnormal External Genitalia | |
| Abnormal Eyelid Morphology | any structural anomaly of the skin folds covering the front of the eyeball |
| Abnormal Facial Expression | |
| Abnormal Fear/Anxiety-Related Behavior | An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. |
| Abnormal Flash Visual Evoked Potentials | Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. |
| Abnormal Foot Bone Ossification | An abnormality of the formation and mineralization of any bone of the skeleton of foot. |
| Abnormal Foveal Morphology | |
| Abnormal Globus Pallidus Morphology | any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment |
| Abnormal Granulocytopoietic Cell Morphology | |
| Abnormal Hair Pattern | An abnormality of the distribution of hair growth. |
| Abnormal Hair Quantity | An abnormal amount of hair. |
| Abnormal Hand Morphology | Any structural anomaly of the hand. |
| Abnormal Hypothalamus Morphology | Any structural anomaly of the hypothalamus. |
| Abnormal Internal Carotid Artery Morphology | any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes |
| Abnormal Involuntary Eye Movements | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| Abnormal Involuntary Movement | anomaly in movements that occur independent of planning (e.g. reflexive behavior) |
| Abnormal Large Intestine Morphology | any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal |
| Abnormal Lipid Deposits | |
| Abnormal Liver Function Tests During Pregnancy | |
| Abnormal Liver Lobulation | |
| Abnormal Localization Of Kidney | An abnormal site of the kidney. |
| Abnormal Lung Lobation | Defects in the formation of pulmonary lobules. |
| Abnormal Male Sexual Function | |
| Abnormal Megakaryocyte Morphology | any structural anomaly of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm |
| Abnormal Mitochondria In Muscle Tissue | An abnormality of the mitochondria in muscle tissue. |
| Abnormal Mitral Valve Morphology | any structural anomaly of the valve between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus) |
| Abnormal Motor Neuron Morphology | Any structural anomal that affects the motor neuron. |
| Abnormal Nasal Morphology | This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. |
| Abnormal Nasolacrimal System Morphology | |
| Abnormal Natural Killer Cell Morphology | |
| Abnormal Neuron Morphology | A structural anomaly of a neuron. |
| Abnormal Oral Cavity Morphology | |
| Abnormal Oral Frenulum Morphology | |
| Abnormal Oral Mucosa Morphology | |
| Abnormal Palate Morphology | any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| Abnormal Palmar Creases | |
| Abnormal Palmar Dermatoglyphics | An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. |
| Abnormal Pelvis Bone Ossification | An abnormality of the formation and mineralization of any bone of the bony pelvis. |
| Abnormal Peripheral Myelination | An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. |
| Abnormal Peripheral Nervous System Morphology | |
| Abnormal Platelet Granules | An anomaly of alpha or dense granules or platelet lysosomes. |
| Abnormal Platelet Shape | A deviation from the normal discoid platelet shape. |
| Abnormal Renal Morphology | Any structural anomaly of the kidney. |
| Abnormal Respiratory Motile Cilium Morphology | Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms. |
| Abnormal Saccadic Eye Movement | |
| Abnormal Sacrum Morphology | |
| Abnormal Scrotal Rugation | |
| Abnormal Sex Determination | Anomaly of primary or secondary sexual development or characteristics. |
| Abnormal Size Of Pituitary Gland | A deviation from the normal size of the pituitary gland. |
| Abnormal Soft Palate Morphology | any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult |
| Abnormal Sperm Development | |
| Abnormal Temper Tantrums | |
| Abnormal Temporal Bone Morphology | any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous |
| Abnormal Thrombosis | Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). |
| Abnormal Trabecular Bone Morphology | Abnormal structure or form of trabecular bone. |
| Abnormal Tracheobronchial Morphology | |
| Abnormal Tricuspid Valve Morphology | any structural anomaly of the valve located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (anulus) |
| Abnormal Type Ii Collagen | |
| Abnormal Umbilical Cord | |
| Abnormal Umbilical Stump Bleeding | Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. |
| Abnormal Upper Motor Neuron Morphology | Any structural anomaly that affects the upper motor neuron. |
| Abnormal Urine Alpha-Ketoglutarate Concentration | |
| Abnormal Ventricular Septum Morphology | |
| Abnormal Vertebral Segmentation And Fusion | |
| Abnormal Vestibulo-Ocular Reflex | An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. |
| Abnormal Vitreous Humor Morphology | |
| Abnormal Yolk Sac | |
| Abnormalities Of Placenta Or Umbilical Cord | An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). |
| Abnormality Iris Morphology | |
| Abnormality Of Abdomen Morphology | |
| Abnormality Of Aortic Arch | |
| Abnormality Of Aortic Valve | |
| Abnormality Of Blood And Blood-Forming Tissues | An abnormality of the hematopoietic system. |
| Abnormality Of Body Height | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| Abnormality Of Bone Marrow Cell Morphology | An anomaly of the form or number of cells in the bone marrow. |
| Abnormality Of Bone Mineral Density | This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. |
| Abnormality Of Canine | |
| Abnormality Of Cardiovascular System Morphology | |
| Abnormality Of Connective Tissue | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Abnormality Of Corneal Stroma | An abnormality of the stroma of cornea, also known as the substantia propria of cornea. |
| Abnormality Of Cortisol-Binding Globulin | |
| Abnormality Of Dentin | Any abnormality of dentin. |
| Abnormality Of Earlobe | An abnormality of the lobule of pinna. |
| Abnormality Of Female External Genitalia | An abnormality of the female external genitalia. |
| Abnormality Of Female Internal Genitalia | An abnormality of the female internal genitalia. |
| Abnormality Of Femoral Epiphysis | An anomaly of a growth plate of a femur. |
| Abnormality Of Femur Morphology | |
| Abnormality Of Fibula Morphology | |
| Abnormality Of Fontanelles | An abnormality of the fontanelle. |
| Abnormality Of Hair Density | An abnormality of the density of hair growth. |
| Abnormality Of Hair Growth Rate | Hair whose growth rate deviates from the norm. |
| Abnormality Of Hair Texture | An abnormality of the texture of the hair. |
| Abnormality Of Lateral Ventricle | A morphological anomal of the lateral ventricle. |
| Abnormality Of Limb Bone Morphology | Any abnormality of bones of the arms or legs. |
| Abnormality Of Lower Limb Joint | |
| Abnormality Of Lower Lip | An abnormality of the lower lip. |
| Abnormality Of Macular Pigmentation | Abnormality of macular or foveal pigmentation. |
| Abnormality Of Male Internal Genitalia | An abnormality of the male internal genitalia. |
| Abnormality Of Multiple Cell Lineages In The Bone Marrow | |
| Abnormality Of Nail Color | An anomaly of the color of the nail. |
| Abnormality Of Neck Blood Vessel | |
| Abnormality Of Nervous System Morphology | A structural anomaly of the nervous system. |
| Abnormality Of Neurogenesis | |
| Abnormality Of Pelvic Girdle Bone Morphology | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| Abnormality Of Prenatal Development Or Birth | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Abnormality Of Primary Molar Morphology | An abnormality of morphology of primary molar. |
| Abnormality Of Pulmonary Valve | |
| Abnormality Of Refraction | An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. |
| Abnormality Of Renal Excretion | An altered ability of the kidneys to void urine and/or specific substances. |
| Abnormality Of Secondary Sexual Hair | Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. |
| Abnormality Of Thalamus Morphology | An abnormality of the thalamus. |
| Abnormality Of The Abdominal Wall | The presence of any abnormality affecting the abdominal wall. |
| Abnormality Of The Acetabulum | An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. |
| Abnormality Of The Achilles Tendon | An abnormality of the Achilles tendon. |
| Abnormality Of The Adrenal Glands | Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. |
| Abnormality Of The Ankles | |
| Abnormality Of The Antihelix | An abnormality of the antihelix. |
| Abnormality Of The Antitragus | An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. |
| Abnormality Of The Anus | Abnormality of the anal canal. |
| Abnormality Of The Aryepiglottic Fold | An abnormality of the aryepiglottic fold. |
| Abnormality Of The Breast | An abnormality of the breast. |
| Abnormality Of The Calcaneus | An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. |
| Abnormality Of The Calf Musculature | |
| Abnormality Of The Cerebellar Vermis | An anomaly of the vermis of cerebellum. |
| Abnormality Of The Cerebral Cortex | An abnormality of the cerebral cortex. |
| Abnormality Of The Cerebral Vasculature | |
| Abnormality Of The Cerebral Ventricles | Abnormality of the cerebral ventricles. |
| Abnormality Of The Cerebrum | An abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality Of The Cheek | |
| Abnormality Of The Clavicle | Any abnormality of the clavicles (collar bones). |
| Abnormality Of The Clitoris | An abnormality of the clitoris. |
| Abnormality Of The Cochlear Nerve | |
| Abnormality Of The Columella | An abnormality of the columella. |
| Abnormality Of The Cranial Nerves | |
| Abnormality Of The Dentate Nucleus | An abnormality of the dentate nucleus. |
| Abnormality Of The Elbow | An anomaly of the joint that connects the upper and the lower arm. |
| Abnormality Of The Endocrine System | |
| Abnormality Of The Epididymis | An abnormality of the epididymis. |
| Abnormality Of The Epiphysis Of The Femoral Head | Any abnormality of the proximal epiphysis of the femur. |
| Abnormality Of The Femoral Metaphysis | An anomaly of the femoral metaphysis. |
| Abnormality Of The Fifth Metatarsal Bone | An anomaly of the fifth metatarsal bone. |
| Abnormality Of The Fingertips | |
| Abnormality Of The First Metatarsal Bone | An anomaly of the first metatarsal bone. |
| Abnormality Of The Fontanelles Or Cranial Sutures | Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ). |
| Abnormality Of The Forearm | An abnormality of the lower arm. |
| Abnormality Of The Gastric Mucosa | An abnormality of the gastric mucous membrane. |
| Abnormality Of The Gingiva | Any abnormality of the gingiva (also known as gums). |
| Abnormality Of The Hairline | The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. |
| Abnormality Of The Head | An abnormality of the head. |
| Abnormality Of The Hip Bone | An abnormality of the hip bone. |
| Abnormality Of The Hip Joint | An abnormality of the hip joint. |
| Abnormality Of The Humerus | An abnormality of the humerus (i.e., upper arm bone). |
| Abnormality Of The Hypothalamus-Pituitary Axis | Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. |
| Abnormality Of The Ilium | An abnormality of the ilium, the largest and uppermost bone of the pelvis. |
| Abnormality Of The Immune System | An abnormality of the immune system. |
| Abnormality Of The Integument | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Abnormality Of The Intervertebral Disk | An abnormality of the intervertebral disk. |
| Abnormality Of The Intrahepatic Bile Duct | An abnormality of the intrahepatic bile duct. |
| Abnormality Of The Joint Spaces Of The Elbow | |
| Abnormality Of The Knee | |
| Abnormality Of The Labia | An anomaly of the labia, the externally visible portions of the vulva. |
| Abnormality Of The Labia Majora | An anomaly of the outer labia. |
| Abnormality Of The Leydig Cells | |
| Abnormality Of The Lymphatic System | |
| Abnormality Of The Mastoid | An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. |
| Abnormality Of The Menstrual Cycle | An abnormality of the ovulation cycle. |
| Abnormality Of The Metacarpal Bones | An abnormality of the metacarpal bones. |
| Abnormality Of The Metaphysis | |
| Abnormality Of The Mitochondrion | An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. |
| Abnormality Of The Musculature Of The Lower Limbs | |
| Abnormality Of The Nares | Abnormality of the nostril. |
| Abnormality Of The Nasal Bridge | Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. |
| Abnormality Of The Nasopharynx | The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. |
| Abnormality Of The Outer Ear | An abnormality of the external ear. |
| Abnormality Of The Ovary | An abnormality of the ovary. |
| Abnormality Of The Palpebral Fissures | An anomaly of the space between the medial and lateral canthi of the two open eyelids. |
| Abnormality Of The Pancreas | An abnormality of the pancreas. |
| Abnormality Of The Pancreatic Islet Cells | An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. |
| Abnormality Of The Parathyroid Gland | An abnormality of the parathyroid gland. |
| Abnormality Of The Parathyroid Physiology | A functional abnormality of the parathyroid gland. |
| Abnormality Of The Penis | |
| Abnormality Of The Periosteum | |
| Abnormality Of The Peritoneum | An abnormality of the peritoneum. |
| Abnormality Of The Periungual Region | An abnormality of the region around the nails of the fingers or toes. |
| Abnormality Of The Periventricular White Matter | |
| Abnormality Of The Pharynx | An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. |
| Abnormality Of The Pleura | An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. |
| Abnormality Of The Pons | An abnormality of the pons. |
| Abnormality Of The Preputium | |
| Abnormality Of The Radius | An abnormality of the radius. |
| Abnormality Of The Respiratory System | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormality Of The Rib Cage | A morphological anomaly of the rib cage. |
| Abnormality Of The Ribs | An anomaly of the rib. |
| Abnormality Of The Scapula | Any abnormality of the scapula, also known as the shoulder blade. |
| Abnormality Of The Scrotum | |
| Abnormality Of The Shoulder | An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. |
| Abnormality Of The Skeletal System | An abnormality of the skeletal system. |
| Abnormality Of The Skull Base | An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. |
| Abnormality Of The Small Intestine | An abnormality of the small intestine. |
| Abnormality Of The Spleen | An abnormality of the spleen. |
| Abnormality Of The Stapes | An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. |
| Abnormality Of The Stomach | An abnormality of the stomach. |
| Abnormality Of The Thoracic Spine | An abnormality of the thoracic vertebral column. |
| Abnormality Of The Thorax | Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). |
| Abnormality Of The Thymus | Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. |
| Abnormality Of The Tibial Metaphysis | |
| Abnormality Of The Tonsils | An abnormality of the tonsils. |
| Abnormality Of The Urethra | An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. |
| Abnormality Of The Urinary System | An abnormality of the urinary system. |
| Abnormality Of The Vertebral Endplates | Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. |
| Abnormality Of The Vertebral Spinous Processes | |
| Abnormality Of The Vestibulocochlear Nerve | Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. |
| Abnormality Of The Voice | Any abnormality of the voice. |
| Abnormality Of The Wrist | Abnormality of the wrist, the structure connecting the hand and the forearm. |
| Abnormality Of Tibia Morphology | |
| Abnormality Of Ulnar Metaphysis | |
| Abnormality Of Upper Lip | An abnormality of the upper lip. |
| Abnormality Of Upper Lip Vermillion | An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. |
| Abnormality Of Vertebral Epiphysis Morphology | An anomaly of one or more epiphyses of one or more vertebrae. |
| Abnormality Of Vision | Abnormality of eyesight (visual perception). |
| Abnormally Low-Pitched Voice | An abnormally low-pitched voice. |
| Abnormally Ossified Vertebrae | |
| Abo Incompatibility | |
| Abortion, Habitual | |
| Abruzzo Erickson Syndrome | |
| Abscess Cavity | |
| Abscess Of Breast | |
| Absence Epilepsy | |
| Absence Of Alpha Granules | |
| Absence Of Lutheran Antigen On Erythrocytes | Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. |
| Absence Of Muscle | |
| Absence Of Septum Pellucidum | |
| Absence Of Tibia With Polydactyly | |
| Absence Seizure Disorder | |
| Absent Anterior Chamber Of Eye | |
| Absent Antitragus | |
| Absent Corpus Callosum Cataract Immunodeficiency | |
| Absent Eyebrow | Absence of the eyebrow. |
| Absent Finger | |
| Absent Fourth Finger Distal Interphalangeal Crease | Absence of the distal interphalangeal flexion creases of the fourth finger. |
| Absent Mastoid | |
| Absent Nail Of Hallux | |
| Absent Nasal Bridge | |
| Absent Nasal Septal Cartilage | Lack of the cartilage of the nasal septum. |
| Absent Ossification Of Calvaria | |
| Absent Pigmentation Of The Ventral Chest | Lack of skin pigmentation (coloring) of the anterior chest. |
| Absent Pituitary | |
| Absent Radius | Missing radius bone associated with congenital failure of development. |
| Absent Scrotum | Congenital absence of the scrotum. |
| Absent Styloid Process Of Ulna | |
| Absent Toe | Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. |
| Absent Tragus | |
| Absssi | |
| Abulia | |
| Abuse Of Synthetic Cathinone | |
| Acalculous Cholecystitis | |
| Acampomelic Campomelic Dysplasia | |
| Acanthamoeba Infection | |
| Acanthamoeba Keratitis | |
| Acanthocheilonemiasis | |
| Acanthocytosis | Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. |
| Acanthocytosis With Hypobetalipoproteinemia | |
| Acantholytic Dyskeratotic Epidermal Nevus | |
| Acantholytic Squamous Cell Carcinoma | |
| Acanthoma | |
| Acanthoma, Clear Cell | |
| Acanthomatous Ameloblastoma | |
| Acanthosis Nigricans | OMIM mapping confirmed by DO. [SN]. |
| Acanthosis Palmaris | |
| Acatalasemia Japanese Type | |
| Acatalasemia Swiss Type | |
| Acatalasia | |
| Accelerated Idioventricular Rhythm | |
| Accessory Carpal Bones | The presence of more than the normal number of carpal bones. |
| Accessory Hepatic Duct | |
| Accessory Kidney | |
| Accessory Nipple | |
| Accessory Oral Frenulum | Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. |
| Accessory Rib | |
| Accessory Scrotum | |
| Accessory Skeletal Muscle | |
| Accessory Spleen | An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. |
| Accommodation Phosphene Disorder | |
| Acephalic Spermatozoa | |
| Acetyl-Coa: Carboxylase Deficiency | |
| Achalasia | An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. |
| Acheiropodia | |
| Achondrogenesis | An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. |
| Achondroplasia | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | |
| Achondroplastic Dwarfism | |
| Achromatopsia | A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. |
| Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 | |
| Acid Phosphatase Deficiency | |
| Acid-Labile Subunit Deficiency | |
| Acinar Cell Tumor | |
| Acinetobacter Bacteraemia | |
| Acinic Cell Carcinoma Of Salivary Gland | |
| Acne | A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. |
| Acne Inversa | |
| Acoustic Neuroma | |
| Acquired Angioedema | Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. |
| Acquired Anomaly Of Tongue | |
| Acquired Antithrombin Iii Deficiency | |
| Acquired Aplastic Anemia | |
| Acquired Atrophy Of Ovary | |
| Acquired C1 Inhibitor Deficiency | |
| Acquired Camptodactyly | |
| Acquired Cjd | |
| Acquired Clubfoot | |
| Acquired Communicating Hydrocephalus | |
| Acquired Cubitus Valgus | |
| Acquired Cystic Disease Associated Renal Cell Carcinoma | |
| Acquired Cystic Kidney Disease | |
| Acquired Deformity Of Finger | |
| Acquired Factor X Deficiency Disease | |
| Acquired Factor Xiii Deficiency | |
| Acquired Fanconi Syndrome | |
| Acquired Flat Foot | |
| Acquired Generalized Lipodystrophy | |
| Acquired Haemophilia | |
| Acquired Hallux Valgus | |
| Acquired Hypofibrinogenemia | |
| Acquired Hypogammaglobulinemia | |
| Acquired Hypogonadotropic Hypogonadism | |
| Acquired Hypoparathyroidism | |
| Acquired Hypophosphatemia | |
| Acquired Hypothyroidism | |
| Acquired Immunodeficiency | |
| Acquired Immunodeficiency Syndrome | A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. |
| Acquired Kyphoscoliosis | |
| Acquired Long Qt Syndrome | A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome. |
| Acquired Methemoglobinemia | |
| Acquired Nephrogenic Diabetes Insipidus | |
| Acquired Neuromyotonia | |
| Acquired Obstructive Azoospermia | |
| Acquired Partial Lipodystrophy | |
| Acquired Pectus Carinatum | |
| Acquired Phimosis | |
| Acquired Platelet Disorder | |
| Acquired Polyneuropathy | |
| Acquired Porencephaly | |
| Acquired Prion Disease | |
| Acquired Protein S Deficiency | |
| Acquired Renal Cystic Disease | |
| Acquired Sensorineural Hearing Loss | |
| Acquired Thrombocytopenia | |
| Acquired Thrombophilia | |
| Acquired Torsion Dystonia | |
| Acquired Trigger Finger | |
| Acquired Von Willebrand'S Disease | |
| Acral Dystrophic Epidermolysis Bullosa | |
| Acral Lentiginous Malignant Melanoma | |
| Acral Self-Healing Collodion Baby | |
| Acrania | |
| Acro-Osteolysis | |
| Acroangiodermatitis Of Skin | |
| Acrobrachycephaly | An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. |
| Acrocallosal Syndrome | A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. |
| Acrocallosal Syndrome, Schinzel Type | |
| Acrocapitofemoral Dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Acrocephalopolydactylous Dysplasia | |
| Acrocephalopolysyndactyly | |
| Acrocephalopolysyndactyly Type 2 | |
| Acrocephalosyndactylia | A synostosis that results_in craniosynostosis and syndactyly. |
| Acrocephaly | |
| Acrodermatitis | |
| Acrodyostosis | |
| Acrodysostosis | A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. |
| Acrofacial Dysostosis | |
| Acrofacial Dysostosis, Cincinnati Type | |
| Acrogeria | |
| Acrokeratoelastoidosis Of Costa | |
| Acrokeratosis | Overgrowth of the stratum corneum characterized by nodular configurations of the backs of the toes and fingers. |
| Acrokeratosis Verruciformis Of Hopf | |
| Acromegaloid Facial Appearance Syndrome | |
| Acromegaly | A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. |
| Acromelia | |
| Acromelic Frontonasal Dysostosis | |
| Acromelic Frontonasal Dysplasia | |
| Acromesomelic Dysplasia Hunter-Thompson Type | |
| Acromesomelic Dysplasia, Demirhan Type | |
| Acromesomelic Dysplasia, Maroteaux Type | An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. |
| Acromicria | |
| Acromicric Dysplasia | Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
| Acroosteolysis Dominant Type | |
| Acroosteolysis Of Distal Phalanges (Feet) | |
| Acroparesthesia | |
| Acropectorovertebral Dysplasia, F-Form | |
| Acroscyphodysplasia | |
| Acrospiroma | |
| Acth Deficiency, Isolated | |
| Acth Syndrome, Ectopic | |
| Acth-Dependent Cushing'S Syndrome | |
| Acth-Independent Macronodular Adrenal Hyperplasia | ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term). |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 | |
| Acth-Secreting Pituitary Adenoma | A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. |
| Actin-Accumulation Myopathy | |
| Actinic Cheilitis | |
| Actinic Keratosis | |
| Actinic Porokeratosis | |
| Actinic Prurigo | |
| Actinobacillus Infections | |
| Action Myoclonus-Renal Failure Syndrome | |
| Activated B-Cell Type Diffuse Large B-Cell Lymphoma | |
| Activated Pi3 Kinase Delta Syndrome | |
| Activated Pi3K-Delta Syndrome | |
| Activated Protein C Resistance | |
| Activation Of Latent Virus | |
| Active Suicidal Ideation | |
| Active Tuberculosis | |
| Actn3 Deficiency | |
| Acute Agranulocytosis | |
| Acute Alcohol Withdrawal | |
| Acute Alcoholic Intoxication | |
| Acute Alcoholic Liver Disease | |
| Acute Alcoholism | |
| Acute Amebiasis | |
| Acute Anaemia | |
| Acute Anaphylaxis | |
| Acute And Chronic Colitis | |
| Acute And Subacute Liver Necrosis (Disorder) | |
| Acute Angle-Closure Glaucoma | |
| Acute Anterior Uveitis | disease cluster belonging to disease group immune |
| Acute Anterior Wall Myocardial Infarction | |
| Acute Aortic Dissection | |
| Acute Apical Abscess | |
| Acute Appendicitis Nos (Disorder) | |
| Acute Arthritis | |
| Acute Asthma | |
| Acute Bacterial Peritonitis | |
| Acute Bacterial Prostatitis | |
| Acute Bacterial Skin And Skin Structure Infection | |
| Acute Basophilic Leukemia | |
| Acute Bilineal Leukemia | |
| Acute Biphenotypic Leukemia | |
| Acute Bronchiolitis | |
| Acute Bronchitis | |
| Acute Bronchitis And Bronchiolitis | |
| Acute Bronchitis Due To Respiratory Syncytial Virus | |
| Acute Cardiac Pulmonary Edema | |
| Acute Central Serous Chorioretinopathy | |
| Acute Cerebellar Ataxia | |
| Acute Cerebellar Syndrome | |
| Acute Cerebral Ischemia | |
| Acute Cerebrovascular Accidents | |
| Acute Cerebrovascular Disease | |
| Acute Chagas' Disease | |
| Acute Chest Syndrome | A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. |
| Acute Cholangitis | |
| Acute Cholecystitis | |
| Acute Cholecystitis Without Calculus | |
| Acute Coagulopathy | |
| Acute Coccidioidomycosis | |
| Acute Colitis | An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). |
| Acute Confusional Migraine | |
| Acute Confusional Senile Dementia | |
| Acute Congestive Heart Failure | |
| Acute Conjunctivitis | |
| Acute Contagious Conjunctivitis | |
| Acute Coronary Insufficiency | |
| Acute Coronary Syndrome | A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. |
| Acute Cystitis | A cystitis characterized by a sudden onset or severe symptoms. |
| Acute Deep Venous Thrombosis | |
| Acute Demyelinating Polyneuropathy | Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. |
| Acute Depression | |
| Acute Dermatitis | |
| Acute Diarrhea | A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. |
| Acute Disseminated Encephalitis | |
| Acute Disseminated Intravascular Coagulation | |
| Acute Diverticulitis | |
| Acute Eczema | |
| Acute Encephalopathy | |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion | |
| Acute Endocarditis | |
| Acute Enterocolitis | |
| Acute Erythroblastic Leukemia | |
| Acute Erythroleukemia | |
| Acute Esophagitis | |
| Acute Exacerbation Of Chronic Obstructive Bronchitis | |
| Acute Fatty Liver Of Pregnancy | |
| Acute Febrile Encephalopathy | |
| Acute Febrile Illness | |
| Acute Flaccid Myelitis | |
| Acute Focal Bacterial Nephritis | |
| Acute Follicular Conjunctivitis | |
| Acute Fulminant Hepatitis | |
| Acute Gastroenteritis | |
| Acute Gastrointestinal Hemorrhage | |
| Acute Generalized Exanthematous Pustulosis | |
| Acute Glaucoma | |
| Acute Glomerulonephritis | |
| Acute Gvh Disease | |
| Acute Haemolytic Anaemia | |
| Acute Heart Failure | |
| Acute Hematogenous Osteomyelitis | |
| Acute Hemolytic Transfusion Reaction | |
| Acute Hemorrhagic Ulcer Of Rectum | |
| Acute Hepatic Steatosis | An acute form of hepatic steatosis. |
| Acute Hepatitis | |
| Acute Hepatitis C | |
| Acute Hiv Infection | |
| Acute Hiv Syndrome | |
| Acute Hypercapnic Respiratory Failure | |
| Acute Hypoxemic Respiratory Failure | |
| Acute Infantile Spinal Muscular Atrophy | |
| Acute Infectious Pneumonia | |
| Acute Infective Polyneuritis | |
| Acute Inferior Myocardial Infarction | |
| Acute Inflammatory Demyelinating Polyneuropathy | |
| Acute Intermittent Porphyria | |
| Acute Interstitial Nephritis | |
| Acute Interstitial Pneumonia | A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. |
| Acute Intestinal Obstruction | |
| Acute Intravascular Hemolysis | |
| Acute Ischemic Heart Disease | |
| Acute Kidney Injury | Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). |
| Acute Kidney Insufficiency | |
| Acute Kidney Tubular Necrosis | |
| Acute Left-Sided Heart Failure | |
| Acute Leukemia | A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. |
| Acute Leukemia In Remission | |
| Acute Leukemia Of Ambiguous Lineage | |
| Acute Lower Respiratory Tract Infection | |
| Acute Lung Injury | Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis. |
| Acute Lung Injury/Acute Respiratory Distress Syndrome (Ards) | |
| Acute Lyme Disease | |
| Acute Lymphoblastic Leukemia | When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.|A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.|A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia. |
| Acute Lymphocytic Leukemia | A lymphoblastic leukemia that is characterized by over production of lymphoblasts. |
| Acute Malaria | |
| Acute Massive Pulmonary Embolism | |
| Acute Mastitis | |
| Acute Mastoiditis | |
| Acute Maxillary Sinusitis | A maxillary sinusitis which lasts for less than 4 weeks. |
| Acute Megakaryocytic Leukemias | |
| Acute Mesenteric Arterial Embolus | |
| Acute Mesenteric Arterial Thrombosis | |
| Acute Migraine | |
| Acute Miliary Tuberculosis | |
| Acute Monoblastic Leukemia | |
| Acute Monocytic Leukemia | OMIM mapping confirmed by DO. [SN]. |
| Acute Monocytic/Monoblastic Leukemia | |
| Acute Motor Axonal Neuropathy | |
| Acute Motor Sensory Axonal Neuropathy | |
| Acute Mountain Sickness | disease cluster belonging to disease group other |
| Acute Mucositis | |
| Acute Myeloblastic Leukemia With T(8;21) | |
| Acute Myeloid Leukaemia | |
| Acute Myeloid Leukemia | Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. |
| Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome | |
| Acute Myelomonoblastic Leukemia | |
| Acute Myelomonocytic Leukemia | A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin. |
| Acute Myelomonocytic Leukemia With Abnormal Eosinophils | |
| Acute Myocardial Infarction | |
| Acute Myocardial Ischemia | |
| Acute Myocarditis | |
| Acute Necrotizing Encephalopathy | |
| Acute Necrotizing Encephalopathy Of Childhood | |
| Acute Nephropathy | |
| Acute Obstructive Cholangitis | |
| Acute On Chronic Hepatitis B | |
| Acute On Chronic Pancreatitis | |
| Acute Osteomyelitis | |
| Acute Otitis Media | |
| Acute Pancreatitis | |
| Acute Panmyelosis With Myelofibrosis | |
| Acute Pericarditis | |
| Acute Periodontitis | |
| Acute Peritonitis | |
| Acute Pharyngitis | |
| Acute Pneumonia | |
| Acute Post-Streptococcal Glomerulonephritis | |
| Acute Post-Traumatic Headache | |
| Acute Posterior Multifocal Placoid Pigment Epitheliopathy | |
| Acute Posthaemorrhagic Anaemia | |
| Acute Promyelocytic Leukaemia Differentiation Syndrome | |
| Acute Promyelocytic Leukemia, In Remission | |
| Acute Psychosis | |
| Acute Psychotic Episode | |
| Acute Pulmonary Congestion | |
| Acute Pulmonary Embolism | |
| Acute Pulmonary Thromboembolism | |
| Acute Pyelonephritis | |
| Acute Q Fever | |
| Acute Radiation Enteritis | |
| Acute Radiation Toxicity | |
| Acute Recurrent Pancreatitis | |
| Acute Renal Failure Due To Ischemia | |
| Acute Respiratory Distress | |
| Acute Respiratory Failure | |
| Acute Respiratory Tract Infection | An acute infection of the upper or lower respiratory tract. |
| Acute Rheumatic Heart Disease | |
| Acute Rhinosinusitis | |
| Acute Schizophrenia | |
| Acute Sciatica | |
| Acute Severe Refractory Exacerbation Of Asthma | |
| Acute St Segment Elevation Myocardial Infarction (Disorder) | |
| Acute Suppurative Appendicitis | |
| Acute Thymic Involution | |
| Acute Tonsillitis | |
| Acute Toxic Hepatitis | |
| Acute Transient Psychotic Disorder | |
| Acute Tuberculosis | |
| Acute Tubulointerstitial Nephritis | |
| Acute Type A Viral Hepatitis | |
| Acute Type B Viral Hepatitis | |
| Acute Ulcer | |
| Acute Ulcerative Colitis | |
| Acute Undifferentiated Leukemia | |
| Acute Upper Respiratory Infection | |
| Acute Urinary Tract Infection | |
| Acute Urticaria | |
| Acute Uveitis | |
| Acute Vascular Graft Rejection | |
| Acute Vascular Insufficiency Of Intestine (Disorder) | |
| Acute Viral Bronchiolitis | |
| Acute Viral Hepatitis | |
| Acute-On-Chronic Liver Failure | |
| Acute-On-Chronic Respiratory Failure | |
| Acyanotic Congenital Heart Disease | |
| Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | |
| Adactyly | The absence of all phalanges of all the digits of a limb and the associated soft tissues. |
| Adamantinoma | A bone cancer that is located_in almost exclusively in the long bones. |
| Adamantinous Craniopharyngioma | |
| Adams Oliver Syndrome | |
| Adams-Oliver Syndrome | A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. |
| Adams-Oliver Syndrome 1 | |
| Addicted To Heroin | |
| Addison Disease | |
| Addison'S Disease Due To Autoimmunity | |
| Addisonian Crisis | |
| Adenine Phosphoribosyltransferase Deficiency | Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
| Adenoameloblastoma | |
| Adenocarcinoid Tumor | |
| Adenocarcinoma | A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization. |
| Adenocarcinoma, Colonic, Somatic | |
| Adenofibroma | A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. |
| Adenoid Cystic Carcinoma | Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)|A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. |
| Adenoid Cystic Carcinoma Of Lung | |
| Adenolymphoma | |
| Adenoma | A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. |
| Adenoma, Cortisol-Producing | |
| Adenomatoid Tumor | |
| Adenomatous Goiter | |
| Adenomatous Polyp Of Colon | |
| Adenomatous Polyposis Coli | |
| Adenomatous Polyposis Coli With Congenital Cholesteatoma | |
| Adenomatous Polyps | |
| Adenomyoepithelioma | |
| Adenomyoma | A carcinosarcoma that has_material_basis_in gland and muscle components. |
| Adenosarcoma | A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. |
| Adenosarcoma Of The Uterus | |
| Adenosine Deaminase 2 Deficiency | |
| Adenosine Deaminase Deficiency | A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. |
| Adenosine Monophosphate Deaminase Deficiency | |
| Adenosine Triphosphate, Elevated, Of Erythrocytes | |
| Adenosis | |
| Adenosis Of Breast | |
| Adenosquamous Carcinoma | A squamous cell carcinoma that contains squamous cells and gland-like cells. |
| Adenosquamous Cell Lung Cancer | |
| Adenosylcobalamin Synthesis Defect | |
| Adenotonsillitis | |
| Adenoviral Hepatitis | |
| Adenoviral Keratitis | |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To | |
| Adenylosuccinate Lyase Deficiency | Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy. |
| Adh-Resistant Diabetes Insipidus | |
| Adhesion Of Intestine | |
| Adhesion Of Lung | |
| Adhesion Of Pleura | |
| Adhesions Of Iris | |
| Adhesive Capsulitis | |
| Adhf | |
| Adiponectin Deficiency | |
| Adiposis Dolorosa | OMIM mapping confirmed by DO. [SN]. |
| Adipsic Diabetes Insipidus | |
| Adjacent Segment Disease | |
| Adjustment Sleep Disorder | |
| Adnexal Lesion | |
| Adnexal Mass | |
| Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder | |
| Adolescent - Emotional Problem | |
| Adolescent Antisocial Behaviour | |
| Adolescent Gynecomastia | |
| Adolescent Idiopathic Scoliosis | |
| Adrenal Calcification | Calcification within the adrenal glands. |
| Adrenal Cancer | |
| Adrenal Cortical Adenoma | An adrenal adenoma that is a benign tumor of the adrenal cortex. |
| Adrenal Cortical Hypofunction | |
| Adrenal Cushing'S Syndrome | |
| Adrenal Gland Hyperplasia Ii | |
| Adrenal Gland Pheochromocytoma | A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. |
| Adrenal Hyperplasia | Enlargement of the adrenal gland. |
| Adrenal Incidentaloma | |
| Adrenal Insufficiency, Congenital | |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal | |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete | |
| Adrenal Insufficiency, Nr5A1-Related | |
| Adrenal Mass | |
| Adrenal Neuroblastoma | An adrenal gland cancer that derives_from immature neuroblastic cells. |
| Adrenal Nodule | |
| Adrenal Rest Tumor | |
| Adrenalitis | |
| Adrenocortical Carcinoma | An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Adrenocortical Carcinoma, Hereditary | |
| Adrenocortical Carcinoma, Pediatric | |
| Adrenocortical Hyperplasia | |
| Adrenocortical Hypoplasia | |
| Adrenocortical Tumor, Somatic | |
| Adrenocorticotropic Hormone (Acth) Deficiency (Disorder) | |
| Adrenocorticotropin Deficient Adrenal Insufficiency | |
| Adrenogenital Disorder | |
| Adrenogenital Syndrome | Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. |
| Adrenoleukodystrophy | A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. |
| Adrenoleukodystrophy, Neonatal | |
| Adrenomyeloneuropathy | |
| Adult Acquired Toxoplasmosis | |
| Adult Acute Basophilic Leukemia | |
| Adult Acute Eosinophilic Leukemia | |
| Adult Acute Erythroid Leukemia | |
| Adult Acute Leukemia In Remission | |
| Adult Acute Lymphocytic Leukemia | |
| Adult Acute Megakaryoblastic Leukemia | |
| Adult Acute Monoblastic Leukemia | |
| Adult Acute Monocytic Leukemia | |
| Adult Acute Myeloblastic Leukemia | |
| Adult Acute Myeloid Leukemia In Remission | |
| Adult Acute Myeloid Leukemia With Inv(16)(P13;Q22) | |
| Adult Acute Myeloid Leukemia Without Maturation | |
| Adult Acute Myelomonocytic Leukemia | |
| Adult Acute Promyelocytic Leukemia With Pml-Rara | |
| Adult Alveolar Soft Part Sarcoma | |
| Adult Anaplastic Astrocytoma | |
| Adult Anaplastic Ependymoma | |
| Adult Anaplastic Large Cell Lymphoma | |
| Adult Anaplastic Oligodendroglioma | |
| Adult Angiosarcoma | |
| Adult Astrocytic Tumor | |
| Adult Atopic Dermatitis | disease cluster belonging to disease group other |
| Adult Attention Deficit Hyperactivity Disorder | |
| Adult Atypical Meningioma | |
| Adult B Acute Lymphoblastic Leukemia | |
| Adult B Lymphoblastic Lymphoma | |
| Adult Brain Glioblastoma | |
| Adult Brain Neoplasm | |
| Adult Burkitt Leukemia | |
| Adult Burkitt Lymphoma | |
| Adult Cholangiocarcinoma | |
| Adult Chronic Myelogenous Leukemia | |
| Adult Classical Hodgkin Lymphoma | |
| Adult Clear Cell Sarcoma Of Soft Parts | |
| Adult Craniopharyngioma | |
| Adult Desmoplastic Small Round Cell Tumor | |
| Adult Diffuse Astrocytoma | |
| Adult Diffuse Large B-Cell Lymphoma | |
| Adult Diffuse Large Cell Lymphoma | |
| Adult Diffuse Small Cleaved Cell Lymphoma | |
| Adult Ependymoma | |
| Adult Epithelioid Hemangioendothelioma | |
| Adult Epithelioid Sarcoma | |
| Adult Erythroleukemia | |
| Adult Extraskeletal Myxoid Chondrosarcoma | |
| Adult Extraskeletal Osteosarcoma | |
| Adult Fanconi Syndrome | |
| Adult Fibrosarcoma | |
| Adult Form Of Celiac Disease | |
| Adult Germ Cell Tumor | |
| Adult Giant Cell Glioblastoma | |
| Adult Glioblastoma | |
| Adult Gliosarcoma | |
| Adult Glycogen Storage Disease Type Ii | |
| Adult Grade I Meningioma | |
| Adult Grade Ii Meningioma | |
| Adult Grade Iii Meningioma | |
| Adult Growth Hormone Deficiency | |
| Adult Hepatocellular Carcinoma | |
| Adult Hodgkin Lymphoma | |
| Adult Hypophosphatasia (Disorder) | |
| Adult I Blood Group Phenotype | |
| Adult Immunoblastic Lymphoma | |
| Adult Intracranial Germ Cell Tumor | |
| Adult Junctional Epidermolysis Bullosa (Disorder) | |
| Adult Kidney Wilms Tumor | |
| Adult Langerhans Cell Histiocytosis | |
| Adult Leiomyosarcoma | |
| Adult Liposarcoma | |
| Adult Liver Carcinoma | |
| Adult Lymphoblastic Lymphoma | |
| Adult Lymphocyte-Rich Classical Hodgkin Lymphoma | |
| Adult Lymphoma | |
| Adult Malignant Peripheral Nerve Sheath Tumor | |
| Adult Medulloblastoma | |
| Adult Meningioma | |
| Adult Mixed Glioma | |
| Adult Myelodysplastic Syndrome | |
| Adult Myxedema | |
| Adult Myxopapillary Ependymoma | |
| Adult Nasal Type Extranodal Nk/T-Cell Lymphoma | |
| Adult Neuroaxonal Dystrophy | |
| Adult Neuronal Ceroid Lipofuscinosis | |
| Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma | |
| Adult Nodular Sclerosis Classical Hodgkin Lymphoma | |
| Adult Non-Hodgkin Lymphoma | |
| Adult Oligodendroglial Tumor | |
| Adult Oligodendroglioma | |
| Adult Onset Asthma | |
| Adult Onset Autosomal Dominant Leukodystrophy | |
| Adult Onset Sensorineural Hearing Impairment | The presence of sensorineural deafness with late onset. |
| Adult Papillary Meningioma | |
| Adult Pelizaeus-Merzbacher Disease | |
| Adult Penile Carcinoma | |
| Adult Pilocytic Astrocytoma | |
| Adult Pineoblastoma | |
| Adult Pineocytoma | |
| Adult Polyglucosan Body Neuropathy | |
| Adult Pre-B Acute Lymphoblastic Leukemia | |
| Adult Primary Cutaneous Anaplastic Large Cell Lymphoma | |
| Adult Pure Erythroid Leukemia | |
| Adult Rhabdomyoma | |
| Adult Rhabdomyosarcoma | |
| Adult Rickets | |
| Adult Sandhoff Disease | |
| Adult Separation Anxiety Disorder | |
| Adult Soft Tissue Sarcoma | |
| Adult Spinal Cord Ependymoma | |
| Adult Subependymal Giant Cell Astrocytoma | |
| Adult Subependymoma | |
| Adult Syndrome | An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. |
| Adult Synovial Sarcoma | |
| Adult Systemic Anaplastic Large Cell Lymphoma | |
| Adult T Acute Lymphoblastic Leukemia | |
| Adult T Lymphoblastic Lymphoma | |
| Adult T-Cell Lymphoma/Leukaemia Recurrent | |
| Adult T-Cell Lymphoma/Leukaemia Refractory | |
| Adult T-Cell Lymphoma/Leukemia | |
| Adult Teratoma | |
| Adult Type Dermatomyositis | |
| Adult Type Granulosa Cell Tumor | |
| Adult Type Ovarian Granulosa Cell Tumor | |
| Adult Type Polycystic Kidney Disease Type 1 | |
| Adult Undifferentiated Pleomorphic Sarcoma | |
| Adult Xanthogranuloma | |
| Adult Yolk Sac Tumor | |
| Adult-Onset Citrullinemia Type 2 | |
| Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation | |
| Adult-Onset Dystonias | |
| Adult-Onset Growth Hormone Deficiency | |
| Adult-Onset Idiopathic Focal Dystonias | |
| Adult-Onset Idiopathic Torsion Dystonias | |
| Adult-Onset Immunodeficiency | |
| Adult-Onset Night Blindness | Inability to see well at night or in poor light with onset in adulthood. |
| Adult-Onset Obesity | |
| Adult-Onset Still Disease | |
| Adult-Onset Vitelliform Macular Dystrophy | |
| Advanced Bile Duct Carcinoma | |
| Advanced Breast Cancer | |
| Advanced Carcinoma | |
| Advanced Cervical Carcinoma | |
| Advanced Chronic Liver Disease | |
| Advanced Cirrhosis | |
| Advanced Cutaneous Melanoma Of The Extremity | |
| Advanced Gastric Neuroendocrine Carcinoma | |
| Advanced Head And Neck Carcinoma | |
| Advanced Head And Neck Squamous Cell Carcinoma | |
| Advanced Hypopharyngeal Squamous Cell Carcinoma | |
| Advanced Laryngeal Squamous Cell Carcinoma | |
| Advanced Lung Cancer | |
| Advanced Lung Carcinoma | |
| Advanced Lung Non-Squamous Non-Small Cell Carcinoma | |
| Advanced Lymphoma | |
| Advanced Malignant Solid Neoplasm | |
| Advanced Melanoma | |
| Advanced Oral Cavity Squamous Cell Carcinoma | |
| Advanced Prostate Adenocarcinoma | |
| Advanced Prostate Carcinoma | |
| Advanced Renal Cell Carcinoma | |
| Advanced Sarcoma | |
| Advanced Sleep Phase Syndrome | A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. |
| Advanced Sleep-Phase Syndrome, Familial | |
| Advanced Squamous Cell Carcinoma Of The Oropharynx | |
| Advanced Synovial Sarcoma | |
| Advanced Urothelial Carcinoma | |
| Advanced Uveal Melanoma | |
| Adverse Effects, Not Elsewhere Classified | |
| Adynamic Bone Disease | |
| Aeromonas Caviae Infection | |
| Aeromonas Hydrophila Infection | |
| Afebrile Seizure | |
| Afibrinogenemia | |
| African Burkitt'S Lymphoma | |
| African Hemochromatosis | |
| African Swine Fever | |
| African Trypanosomiasis | |
| After-Cataract | |
| Agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| Agammaglobulinemia, Non-Bruton Type | |
| Aganglionosis, Colonic | |
| Aganglionosis, Rectosigmoid Colon | |
| Age Related Macular Degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| Age-Associated Memory Impairment | disease cluster belonging to disease group aging |
| Age-Related Amyloidosis | |
| Age-Related Cataract | |
| Age-Related Cognitive Decline | |
| Age-Related Cortical Cataract | |
| Age-Related Macular Degeneration Type 11 | |
| Age-Related Sarcopenia | |
| Agenesis | |
| Agep | |
| Aggressive Adult Non-Hodgkin Lymphoma | |
| Aggressive Angiomyxoma | |
| Aggressive Natural Killer-Cell Leukemia | |
| Aggressive Non-Hodgkin Lymphoma | |
| Aggressive Outburst | |
| Aggressive Papillary Tumor | |
| Aggressive Periodontitis | A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. |
| Aggressive Periodontitis, Generalized | |
| Aggressive Systemic Mastocytosis | |
| Agnosia | A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. |
| Agonadism | |
| Agoraphobia | A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. |
| Agranulocytosis | |
| Agraphesthesia | |
| Agraphia | |
| Agyria | |
| Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome | |
| Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | |
| Aicardi'S Syndrome | |
| Aicardi-Goutieres Syndrome | An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. |
| Aicardi-Goutieres Syndrome 2 | |
| Aids (Disease) | |
| Air Cyst | |
| Airway Disease | |
| Airway Disease Restrictive | |
| Akinesia | Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. |
| Akinetic Mutism | A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. |
| Akinetic Petit Mal | |
| Akinetic Rigid Syndrome | |
| Akinetic-Rigid Variant Of Huntington Disease | |
| Al Awadi Syndrome | |
| Al Kaissi Syndrome | |
| Al-Gazali Syndrome | |
| Al-Raqad Syndrome | |
| Alacrima | Absence of tear secretion. |
| Alacrima, Achalasia, And Mental Retardation Syndrome | |
| Alacrima, Congenital, Autosomal Recessive | |
| Alagille Syndrome | A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. |
| Alazami-Yuan Syndrome | |
| Albers-Schonberg Disease, Autosomal Recessive | |
| Albinism | An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). |
| Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells | |
| Albinism, Ocular | |
| Albinism, Oculocutaneous | |
| Albinism, Tyrosinase-Negative | |
| Albinism, Tyrosinase-Positive | |
| Albinoidism, Oculocutaneous, Autosomal Dominant | |
| Albright'S Hereditary Osteodystrophy | An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. |
| Alcohol Abuse | A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. |
| Alcohol Abuse Or Dependence | |
| Alcohol Dependence With Withdrawal, Unspecified | |
| Alcohol Myopathy | |
| Alcohol Or Other Drugs Use | |
| Alcohol Related Birth Defect | |
| Alcohol Related Neurodevelopmental Disorder | |
| Alcohol Toxicity | |
| Alcohol Use Disorder | |
| Alcohol Withdrawal Delirium | |
| Alcohol Withdrawal Seizures | |
| Alcohol Withdrawal Syndrome | |
| Alcohol-Induced Chronic Pancreatitis | |
| Alcohol-Induced Disorders, Nervous System | |
| Alcohol-Related Liver Disease | |
| Alcoholic Brain Damage | |
| Alcoholic Gastritis | |
| Alcoholic Intoxication | |
| Alcoholic Intoxication, Chronic | |
| Alcoholic Liver Damage | |
| Alcoholic Neuropathy | |
| Alcoholic Steatohepatitis | |
| Aldosterone Synthase Deficiency | |
| Aldosterone-Producing Adrenal Adenoma, Somatic | |
| Aldosterone-Producing Adrenal Cortex Adenoma | |
| Aleutian Mink Disease | A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. |
| Alexander Disease | A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. |
| Alexia | |
| Algophobia | |
| Alk Positive Large B-Cell Lymphoma | |
| Alkalemia | |
| Alkaptonuria | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
| Alkuraya-Kucinskas Syndrome | |
| Allan-Herndon-Dudley Syndrome (Ahds) | |
| Allanson Pantzar Mcleod Syndrome | |
| Allergic Asthma | An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. |
| Allergic Bronchitis | |
| Allergic Bronchopulmonary Mycosis | |
| Allergic Conjunctivitis | A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. |
| Allergic Diarrhea | |
| Allergic Disorder | |
| Allergic Disorder Of Respiratory System | |
| Allergic Enteritis | |
| Allergic Fungal Sinusitis | |
| Allergic Keratoconjunctivitis | |
| Allergic Rhinitis (Disorder) | |
| Allergic Rhinitis With Asthma | |
| Allergic Rhinoconjunctivitis | |
| Allergic Sensitization | |
| Allergic Sinusitis | |
| Allergy To Chlorpromazine | |
| Allergy To Grass Pollen | |
| Allergy To Metal | |
| Allergy To Sting | |
| Allergy To Vaccine | |
| Allogenic Disease | |
| Allograft Thrombosis | |
| Alloimmune Neonatal Neutropenia | |
| Alloimmune Thrombocytopenia | |
| Alloimmunisation | |
| Alloxan Diabetes | |
| Alobar Holoprosencephaly | |
| Aloof | |
| Alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| Alopecia Areata 2 | |
| Alopecia Congenita | |
| Alpers Syndrome (Disorder) | |
| Alpha 1-Antitrypsin Deficiency | A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. |
| Alpha Ketoadipic Aciduria | |
| Alpha Thalassemia Intermedia | |
| Alpha Thalassemia Minor | |
| Alpha Trait Thalassemia | |
| Alpha, Alpha-Trehalase Deficiency | |
| Alpha-1-Antitrypsin Deficiency, Autosomal Recessive | |
| Alpha-2-Antiplasmin Deficiency | |
| Alpha-2-Macroglobulin Deficiency | |
| Alpha-2-Plasmin Inhibitor Deficiency | |
| Alpha-Aminoadipic Semialdehyde Deficiency Disease | |
| Alpha-B Crystallinopathy | |
| Alpha-Dystroglycanopathies | |
| Alpha-Fetoprotein Deficiency | |
| Alpha-Ketoglutarate Dehydrogenase Deficiency | |
| Alpha-L-Iduronidase Deficiency | |
| Alpha-Mannosidosis | A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
| Alpha-Methylacyl-Coa Racemase Deficiency | |
| Alpha-Sarcoglycanopathies | |
| Alpha-Thalassemia | |
| Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type | |
| Alpha-Thalassemia Myelodysplasia Syndrome | |
| Alpha-Thalassemia, Hmong Type | |
| Alpha-Thalassemia-2, Nondeletional | |
| Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder | |
| Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked | |
| Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity | |
| Alphaviral Infection | |
| Alpha^+^ Thalassemia | |
| Alpha^+^ Thalassemia, Deletion Type | |
| Alpha^0^ Thalassemia | |
| Alport Syndrome | A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. |
| Alport Syndrome, Autosomal Dominant | |
| Alport Syndrome, Autosomal Recessive | |
| Alport Syndrome, Dominant Type | |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis | |
| Alport Syndrome, Recessive Type | |
| Alport Syndrome, X-Linked | |
| Alstrom Syndrome | An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. |
| Alternating Esotropia | |
| Alternating Exotropia | |
| Alternating Hemiplegia Of Childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. |
| Alternating Hemiplegia Of Childhood 1 | |
| Alternating Hemiplegia Of Childhood 2 | |
| Altitude Hypoxia | |
| Altman Type Iv Sacrococcygeal Teratoma | |
| Aluminium Overload | |
| Aluminum Intoxication | |
| Alveolar Bone Loss | |
| Alveolar Capillary Dysplasia | |
| Alveolar Pyorrhea | |
| Alveolar Rhabdomyosarcoma | A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar |
| Alveolar Ridge Abnormality | |
| Alveolar Soft Part Sarcoma | A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. |
| Alveolar Soft Part Sarcoma Metastatic | |
| Alveolitis | |
| Alveolitis, Fibrosing | |
| Alzheimer Disease | |
| Amaurosis | |
| Ambiguous Genitalia | A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. |
| Ambiguous Genitalia, Female | Ambiguous genitalia in an individual with XX genetic gender. |
| Amebiasis | A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. |
| Amebic Colitis | |
| Amegakaryocytic Thrombocytopenia | Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. |
| Amegakaryocytosis | |
| Amelanotic Skin Melanoma | |
| Amelia | Congenital absence (aplasia) of one or more limbs. |
| Ameloblastic Carcinoma | |
| Ameloblastic Fibroma | |
| Ameloblastoma | A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. |
| Amelogenesis Imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| American Cutaneous Leishmaniasis | |
| Ametropia | |
| Amino Acid Metabolism, Inherited Disorders | |
| Aminoacidemia | |
| Aminoaciduria | An increased concentration of an amino acid in the urine. |
| Aminoacylase 1 Deficiency | |
| Aminoacylase 2 Deficiency | |
| Amish Brittle Hair Brain Syndrome | |
| Amish Infantile Epilepsy Syndrome | |
| Aml M5B | |
| Amnesia | |
| Amniotic Bands | |
| Amphetamine Abuse | A substance abuse that involves the recurring use of amphetamines despite negative consequences. |
| Amphetamine Addiction | |
| Amphetamine Or Related Acting Sympathomimetic Abuse | |
| Amphetamine Withdrawal | |
| Amputation Stumps | |
| Amr Syndrome | |
| Amygdalo-Hippocampal Epilepsy | |
| Amylo-1,6-Glucosidase Deficiency | |
| Amyloid Angiopathy | |
| Amyloid Cardiomyopathy, Transthyretin-Related | |
| Amyloid Neuropathy | |
| Amyloid Of Cornea | |
| Amyloid Of Vitreous | |
| Amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| Amyopathic Dermatomyositis | |
| Amyotrophic Lateral Sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| Amyotrophy, Hereditary Neuralgic | |
| Amyotrophy, Monomelic | |
| Anaemia, Postpartum | |
| Anal Abscess | |
| Anal And Rectal Conditions | |
| Anal Canal Squamous Carcinoma | |
| Anal Canal Squamous Cell Carcinoma | An anal canal cancer that derives_from epithelial squamous cells. |
| Anal Cancer Metastatic | |
| Anal Cancer Recurrent | |
| Anal Carcinoma | A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. |
| Anal Fistula | An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. |
| Anal Infection | |
| Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) | |
| Anal Lsil | |
| Anal Sphincter Hypertonia | |
| Anal Squamous Cell Carcinoma | An anal carcinoma that arises near the squamocolumnar junction. |
| Anal Warts | |
| Analgesic Overuse Headache | |
| Anaplasia | |
| Anarthria Speech Disorder | |
| Anastomosing Hemangioma | |
| Anastomosis | |
| Anatomic Breast Cancer | |
| Anatomical Narrow Angle Glaucoma | |
| Anauxetic Dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Anauxetic Dysplasia 2 | |
| Ancylostomiasis | A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. |
| Andersen Syndrome | |
| Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome | |
| Androgen Independent Prostate Cancer | |
| Androgen Insensitivity, Partial, With Breast Cancer | |
| Androgen Receptor Deficiency | |
| Androgen-Insensitivity Syndrome | |
| Androgenetic Alopecia | |
| Android Obesity | |
| Anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| Anemia Hemoglobin | |
| Anemia, Congenital Dyserythropoietic, Type Ib | |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 | |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 | |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | |
| Anemia, Perinatal Hemolytic, Fatal Or Near-Fatal | |
| Anemia, Sideroblastic | |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities | |
| Anencephaly | |
| Aneurysm | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| Aneurysm, Intracranial Berry, 1 (Disorder) | |
| Aneurysmal Disease | |
| Angel Shaped Phalangoepiphyseal Dysplasia | |
| Angelman Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Angiectasis | |
| Angina | |
| Angioblastic Meningioma | |
| Angiocentric Glioma | |
| Angiodysplasia | A vascular disease that is characterized as a small vascular malformation of the gut. |
| Angiodysplasia Of Colon | |
| Angioectasia | |
| Angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| Angioendotheliomatosis | |
| Angiofibroma | |
| Angiofibroma, Somatic | |
| Angiogenic Switch | |
| Angioid Streaks | OMIM mapping confirmed by DO. [SN]. |
| Angioimmunoblastic Lymphadenopathy | |
| Angioimmunoblastic T-Cell Lymphoma Refractory | |
| Angiokeratoma | |
| Angiolipoma | A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. |
| Angiolymphoid Hyperplasia | |
| Angioma | |
| Angiomatosis | |
| Angiomatosis, Bacillary | |
| Angiomatous Meningioma | |
| Angiomyofibroblastoma | |
| Angiomyolipoma | A cell type benign neoplasm that from perivascular epithelioid cells. |
| Angiomyolipoma Of Kidney | |
| Angiomyoma | |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | |
| Angiosarcoma Non-Metastatic | |
| Angiosarcoma Of Liver | |
| Angiosarcoma Of The Breast | |
| Angiostrongyliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. |
| Angiostrongylus Infections | |
| Angle Closure Glaucoma | |
| Angular Cheilitis | |
| Anhaptoglobinemia | |
| Anhedonia | Inability to experience pleasure activities usually found enjoyable. |
| Anhidrosis | OMIM mapping confirmed by DO. [SN]. |
| Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands | |
| Anhidrosis, Isolated, With Normal Sweat Glands | |
| Anhydramnios | |
| Anhydrotic Ectodermal Dysplasias | |
| Aniridia 3 | |
| Aniridia, Atypical | |
| Anisakiasis | A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. |
| Anisomastia | |
| Anisometropia | |
| Ankle Arthritis | |
| Ankyloblepharon | Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. |
| Ankyloblepharon Filiforme Adnatum | |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate | |
| Ankyloglossia | Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. |
| Ankylosing Spondylitis | A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. |
| Ankylosing Spondylitis And Other Inflammatory Spondylopathies | |
| Ankylosis Of Feet Small Joints | |
| Ankylosis Of The Elbow Joint | |
| Annular Erythema | |
| Annular Pancreas | A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. |
| Anodontia Of Permanent Dentition | |
| Anomalous Pulmonary Artery | |
| Anomalous Pulmonary Vein | |
| Anomalous Splenoportal Venous System | |
| Anomalous Vascular Distribution | |
| Anomia | |
| Anonychia | Aplasia of the nail. |
| Anophthalmia And Pulmonary Hypoplasia | |
| Anophthalmos | |
| Anorectal Atresia | |
| Anorexia | A lack or loss of appetite for food (as a medical condition). |
| Anorgasmia | |
| Anosognosia | An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. |
| Anovulatory (Finding) | |
| Anoxia | absence or almost complete absence of oxygen from inspired gases, in blood or tissues |
| Anridia | |
| Anterior Basal Encephalocele | |
| Anterior Beaking Of Lower Thoracic Vertebrae | Anterior tongue-like protrusions of the lower thoracic vertebral bodies. |
| Anterior Beaking Of Lumbar Vertebrae | Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. |
| Anterior Beaking Of Thoracic Vertebrae | Anterior tongue-like protrusions of thoracic vertebral bodies. |
| Anterior Chamber Synechiae | |
| Anterior Encephalocele | |
| Anterior Horn Cell Disease | |
| Anterior Hypopituitarism | A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. |
| Anterior Ischemic Optic Neuropathy | |
| Anterior Lenticonus | A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. |
| Anterior Myocardial Infarction | |
| Anterior Open Bite | |
| Anterior Pituitary Dysgenesis | Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. |
| Anterior Pituitary Hormone Deficiency | |
| Anterior Polar Cataract 2 | |
| Anterior Segment Anomalies And Cataract | |
| Anterior Segment Anomalies With Or Without Cataract | |
| Anterior Segment Dysgenesis | Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. |
| Anterior Segment Mesenchymal Dysgenesis | |
| Anterior Spinal Artery Syndrome | |
| Anterior Subcapsular Cataract | |
| Anterior Synechiae | |
| Anterior Uveitis | |
| Anterior Uveitis Idiopathic | |
| Anterior Wedging Of L1 | An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). |
| Anterior Wedging Of T11 | |
| Anterior Wedging Of T12 | |
| Anteroseptal Infarction | |
| Anteroseptal Myocardial Infarction | |
| Anthracosilicosis | |
| Anthracosis | |
| Anthrax Disease | A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. |
| Anti-Basement Membrane Glomerulonephritis | |
| Anti-D Isoimmunization Affecting Pregnancy | |
| Anti-Glomerular Basement Membrane Disease | |
| Anti-Mag Neuropathy | |
| Anti-N-Methyl-D-Aspartate Receptor Encephalitis | |
| Anti-Neutrophil Cytoplasmic Antibody Positive Vasculitis | |
| Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | |
| Anti-Pit-1 Antibody Syndrome | |
| Anti-Plasmin Deficiency, Congenital | |
| Anti-Polysaccharide Antibody Deficiency | |
| Antibiotic-Associated Diarrhea | |
| Antibody Deficiency Due To Defect In Cd19 | |
| Antibody Deficiency Syndrome | |
| Antiphospholipid Syndrome | A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). |
| Antisocial Personality Disorder | A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. |
| Antisynthetase Syndrome | |
| Antithrombin Iii Deficiency | An inherited blood coagulation disease characterized by the tendency to form clots in the veins. |
| Antley-Bixler Syndrome Phenotype | |
| Antley-Bixler Syndrome With Disordered Steroidogenesis | |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis | |
| Antley-Bixler Syndrome, Autosomal Dominant | |
| Antral Carcinoma | |
| Antral Gastritis | |
| Antral Ulcer | |
| Anus Prolapse | |
| Anus, Imperforate | |
| Anxiety | Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus. |
| Anxiety Acute | |
| Anxiety Generalized | |
| Aorta To Right Ventricle Tunnel | |
| Aortic Aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| Aortic Angiosarcoma | |
| Aortic Coarctation | |
| Aortic Dissection Rupture | |
| Aortic Intramural Haematoma | |
| Aortic Root Dilatation | |
| Aortic Root Dilation | |
| Aortic Rupture | |
| Aortic Sclerosis | |
| Aortic Stenosis Symptomatic | |
| Aortic Tortuosity | Abnormal tortuous (i.e., twisted) form of the aorta. |
| Aortic Valve Calcification | Deposition of calcium salts in the aortic valve. |
| Aortic Valve Disease 1 | |
| Aortic Valve Disease 2 | |
| Aortic Valve Disorder | |
| Aortic Valve Insufficiency | An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. |
| Aortic Valve Sclerosis | disease cluster belonging to disease group cardiovascular |
| Aortic Valve Stenosis | An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. |
| Aortic Wall Hypertrophy | |
| Aortitis | |
| Aortocaval Fistula | |
| Aortoiliac Occlusive Disease | |
| Aortopulmonary Septal Defect | |
| Apena | |
| Apert Syndrome | |
| Apert-Crouzon Disease | |
| Aphakia | absence of the crystalline lens of the eye |
| Aphalangy Of The Hands | Absence of a digit or of one or more phalanges of a finger. |
| Aphasia | A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. |
| Aphthous Stomatitis | A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. |
| Apical Hypertrophic Cardiomyopathy | |
| Apical Myocardial Infarction | |
| Aplasia Cutis Congenita | A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. |
| Aplasia Cutis Congenita Of Scalp | A developmental defect resulting in the congenital absence of skin on the scalp. |
| Aplasia Cutis Congenita Over Posterior Parietal Area | |
| Aplasia Cutis Congenita Over The Scalp Vertex | A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. |
| Aplasia Cutis Congenita With Epibulbar Dermoids | |
| Aplasia Of Lacrimal And Salivary Glands | Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. |
| Aplasia Of Muscle | |
| Aplasia Of The Bone | |
| Aplasia Of The Epiglottis | Absence of the epiglottis. |
| Aplasia Of The Parotid Gland | Absence of the parotid gland. |
| Aplasia Of The Pectoralis Major Muscle | Absence of the pectoralis major muscle. |
| Aplasia Of The Semicircular Canal | Absence of the semicircular canal. |
| Aplasia/Hypoplasia Of The 5Th Finger | A small/hypoplastic or absent/aplastic 5th finger. |
| Aplasia/Hypoplasia Of The Capital Femoral Epiphysis | Absence or underdevelopment of the proximal epiphysis of the femur. |
| Aplasia/Hypoplasia Of The Earlobes | Absence or underdevelopment of the ear lobes. |
| Aplasia/Hypoplasia Of The Extremities | Absence (due to failure to form) or underdevelopment of the extremities. |
| Aplasia/Hypoplasia Of The Iris | Absence or underdevelopment of the iris. |
| Aplasia/Hypoplasia Of The Thymus | Absence or underdevelopment of the thymus. |
| Aplasia/Hypoplastia Of The Eccrine Sweat Glands | Absence or developmental hypoplasia of the eccrine sweat glands. |
| Aplastic Anemia | An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| Aplastic Anemia, Susceptibility To (Finding) | |
| Aplastic Bone Marrow | |
| Apocrine Adenoma | |
| Apocrine Carcinoma | |
| Apocrine Cystadenoma | |
| Apocrine Metaplasia | |
| Apolipoprotein C-Ii Deficiency (Disorder) | |
| Apolipoprotein C-Iii Deficiency | |
| Apoptotic Dna Damage | |
| Apparent Mineralocorticoid Excess | Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. |
| Appendicitis | A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. |
| Appendicolith | |
| Apraxia | An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. |
| Aprosencephaly | |
| Aprt Deficiency, Japanese Type | |
| Apudoma | |
| Aqueductal Stenosis | Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. |
| Aqueous Humor Disorders | |
| Arachnodactyly | Abnormally long and slender fingers (spider fingers). |
| Arachnoid Cysts | |
| Arachnoid Web | |
| Arachnoiditis | |
| Arachnophobia | |
| Arakawa Syndrome 2 | |
| Arcus Senilis | OMIM mapping confirmed by DO. [SN]. |
| Arcus Senilis, Bilateral | |
| Arginine:Glycine Amidinotransferase Deficiency | |
| Argininosuccinic Acid Synthetase Deficiency Disease, Partial | |
| Argininosuccinic Acid Synthetase Deficiency, Complete | |
| Argininosuccinic Aciduria | An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
| Argyrophilic Grain Disease | |
| Arhinencephaly | |
| Arhinia, Choanal Atresia, And Microphthalmia | |
| Aria-H | |
| Arima Syndrome | |
| Aristolochic Acid Nephropathy | |
| Arnold Chiari Malformation | |
| Aromatase Deficiency | Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. |
| Aromatase Excess Syndrome | |
| Aromatic Amino Acid Decarboxylase Deficiency | |
| Arrested Hydrocephalus | |
| Arrhinia | |
| Arrhythmogenic Right Ventricular Dysplasia | |
| Arsenic Encephalopathy | |
| Arsenic Induced Polyneuropathy | |
| Arsenic Poisoning | |
| Arsenic Poisoning, Inorganic | |
| Arterial Aneurysm | |
| Arterial Calcification | Pathological deposition of calcium salts in one or more arteries. |
| Arterial Calcification Of Infancy | A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. |
| Arterial Diseases, Common Carotid | |
| Arterial Fibrosis | |
| Arterial Insufficiency | |
| Arterial Intimal Fibrosis | Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. |
| Arterial Leg Ulcer | |
| Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly | |
| Arterial Tortuosity Syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. |
| Arteriolar Hyalinosis | |
| Arteriolar Nephrosclerosis | |
| Arteriolosclerosis | |
| Arterionephrosclerosis | |
| Arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| Arteriovascular Degeneration | |
| Arteriovenous Fistula | |
| Arteriovenous Graft | |
| Arteriovenous Hemangioma | |
| Arteriovenous Malformation Of Liver | |
| Arteritic Anterior Ischemic Optic Neuropathy | |
| Arthralgia | Joint pain. |
| Arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| Arthritis Symptoms | |
| Arthrofibrosis | disease cluster belonging to disease group other |
| Arthrogryposis | Persistent flexure or contracture of a joint. (Dorland, 27th ed) |
| Arthropathy | A bone inflammation disease that is located_in joint. |
| Arthus Reaction | |
| Articulation Disorders | |
| Aryl Hydrocarbon Hydroxylase Inducibility | |
| Arylsulfatase A Deficiency | |
| Arylsulfatase A Pseudodeficiency | |
| As If Personality | |
| Asa Intolerant Asthma | |
| Asbestos Pleurisy | |
| Asbestos-Related Lung Carcinoma | |
| Asbestos-Related Malignant Mesothelioma | |
| Asbestosis | A pneumoconiosis caused by inhalation and retention of asbestos fibers. |
| Ascariasis | A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. |
| Ascending Aorta Dilatation | |
| Ascending Aortic Rupture | |
| Ascites | Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen. |
| Ascorbic Acid Deficiency | |
| Asd I | |
| Asd Ii | |
| Aseptic Meningitis | |
| Aseptic Peritonitis | |
| Asherman Syndrome | |
| Asiderotic Anemia | |
| Askin'S Tumor | |
| Asparagine Synthetase Deficiency | |
| Aspartylglucosamidase (Aga) Deficiency | |
| Asperger Syndrome | An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 (Disorder) | |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 (Finding) | |
| Aspergilloma | |
| Aspergillosis | An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. |
| Aspergillosis, Susceptibility To | |
| Asphyxia | |
| Aspiration Pneumonia | A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. |
| Aspiration Pneumonitis | A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. |
| Aspirin Exacerbated Respiratory Disease | |
| Asplenia Syndrome | |
| Associated Pulmonary Arterial Hypertension | |
| Asteroid Hyalosis | |
| Asthenozoospermia | loss or reduction of the mobility of the spermatozoa, frequently associated with infertility |
| Asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| Asthma With Copd | |
| Astigmatism | Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed). |
| Astler-Coller B1 Rectal Carcinoma | |
| Astroblastoma | |
| Astrocytic Hamartoma | |
| Astrocytoma | A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) |
| Astrocytoma, Low-Grade, Somatic | |
| Asymmetric Crying Face Association | |
| Asymmetric Diabetic Proximal Motor Neuropathy | |
| Asymmetric Septal Hypertrophy | Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. |
| Asymmetrical Conjoined Twins | |
| Asymptomatic Bacteriuria | |
| Asymptomatic Carotid Artery Stenosis | |
| Asymptomatic Human Immunodeficiency Virus Infection | |
| Asymptomatic Hyperuricemia | |
| Asymptomatic Hypoglycaemia | |
| Asymptomatic Inflammatory Prostatitis | |
| Asymptomatic Multiple Myeloma | |
| Asymptomatic Periapical Periodontitis | |
| Ataxia | |
| Atelosteogenesis | OMIM mapping confirmed by DO. [SN]. |
| Athabaskan Brainstem Dysgenesis | |
| Athabaskan Severe Combined Immunodeficiency | |
| Atheroeruptive Xanthoma | |
| Atherogenic Dyslipidaemia | |
| Atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| Atherothrombosis | |
| Athetoid Cerebral Palsy | |
| Athlete'S Heart | |
| Atkin Syndrome | |
| Atlantoaxial Instability | Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. |
| Atopic Cataract | |
| Atopic Eczema/Dermatitis (Non-Specific) | |
| Atopic Ige-Mediated Allergic Disorder | |
| Atopic Keratoconjunctivitis | |
| Atopic Rhinitis | |
| Atp Synthase Deficiency | |
| Atresia | |
| Atrial Cardiomyopathy | |
| Atrial Dilatation | |
| Atrial Enlargement | |
| Atrial Fibrillation | A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. |
| Atrial Fibrillation New Onset | |
| Atrial Hypertrophy | |
| Atrial Myxoma | |
| Atrial Myxoma, Familial | |
| Atrial Premature Complexes | |
| Atrial Septal Aneurysm | A bulging of the interatrial septum towards one side. IN adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. |
| Atrial Septal Defect | |
| Atrial Standstill | |
| Atrial Thrombosis | formation or presence of a thrombus in the atria of the heart |
| Atrichia | |
| Atrichia With Papular Lesions | Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. |
| Atrioventricular Block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. |
| Atrioventricular Canal Defect | |
| Atrioventricular Reciprocating Tachycardia | |
| Atrioventricular Septal Defect | A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. |
| Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome | |
| Atrophia Maculosa Varioliformis Cutis, Familial | |
| Atrophic Acne Scar | |
| Atrophic Iris | |
| Atrophic Retina | |
| Atrophic Vaginitis | |
| Atrophic, Patchy Alopecia | |
| Atrophoderma Maculatum | |
| Atrophoderma Vermiculatum | |
| Atrophy Of Corpus Callosum | |
| Atrophy Of Kidney | |
| Atrophy Of Liver | |
| Atrophy Of Optic Disc | |
| Atrophy Of Pancreas | |
| Atrophy Of Prostate | |
| Atrophy Of Seminal Vesicle | |
| Atrophy Of Testis | |
| Atrophy Of The Spinal Cord | |
| Atrophy Of Tongue | |
| Atrophy Of Tongue Papillae | |
| Atrophy Of Vagina | |
| Atrophy, Disuse | |
| Atrophy, Muscular, Spinobulbar | |
| Atrophy/Degeneration Affecting The Brainstem | |
| Attention Deficit Disorder | |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 | |
| Attenuated Chédiak-Higashi Syndrome | |
| Atypical Absence Seizure | |
| Atypical Adenoma | |
| Atypical Adenomatous Lung Hyperplasia | |
| Atypical Angina | |
| Atypical Autism | An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. |
| Atypical Benign Partial Epilepsy | |
| Atypical Burkitt'S Lymphoma | |
| Atypical Carcinoid Tumor | |
| Atypical Choroid Plexus Papilloma | |
| Atypical Cystic Fibrosis | |
| Atypical Depressive Disorder | A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (comfort eating), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. |
| Atypical Ductal Breast Hyperplasia | |
| Atypical Endometrial Hyperplasia | |
| Atypical Endometriosis | |
| Atypical Fibroxanthoma Of Skin | |
| Atypical Follicular Adenoma | |
| Atypical Hemolytic Uremic Syndrome | |
| Atypical Hypotonia Cystinuria Syndrome | |
| Atypical Inclusion-Body Disease | |
| Atypical Juvenile Parkinsonism | |
| Atypical Lipoma | |
| Atypical Lobular Breast Hyperplasia | |
| Atypical Lymphoproliferative Disorder | |
| Atypical Medullary Carcinoma | |
| Atypical Meningioma | |
| Atypical Mycobacteriosis, Familial | |
| Atypical Mycobacteriosis, Familial, X-Linked 1 (Disorder) | |
| Atypical Mycobacteriosis, Familial, X-Linked 2 | |
| Atypical Neurofibroma | |
| Atypical Or Prolonged Hepatitis | |
| Atypical Parkinson Disease | |
| Atypical Parkinsonism | |
| Atypical Pneumonia | |
| Atypical Polypoid Adenomyoma | |
| Atypical Psychosis | |
| Atypical Pulmonary Carcinoid Tumor | |
| Atypical Scrapie | |
| Atypical Small Acinar Proliferation Of The Prostate Gland | |
| Atypical Spitz Nevus | |
| Atypical Subacute Thyroiditis | |
| Atypical Teratoid Rhabdoid Tumor | A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. |
| Atypical Werner Syndrome | |
| Au-Kline Syndrome | |
| Auditory And Visual Hallucinations | |
| Auditory Neuropathy | |
| Auditory Neuropathy And Optic Atrophy | |
| Auditory Neuropathy Spectrum Disorder | |
| Auditory Neuropathy, Autosomal Dominant, 1 | |
| Auditory Processing Disorder, Central | |
| Aural Atresia, Congenital | |
| Auriculo-Condylar Syndrome | |
| Auriculocondylar Syndrome | |
| Autism | A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old. |
| Autism, Severe | |
| Autism, Susceptibility To | |
| Autoimmune Adrenal Insufficiency | |
| Autoimmune Anaemia | |
| Autoimmune Arthritis | |
| Autoimmune Cholangitis | |
| Autoimmune Colitis | |
| Autoimmune Connective Tissue Disorder | |
| Autoimmune Crescentic Glomerulonephritis | |
| Autoimmune Demyelinating Disease | |
| Autoimmune Disease (Systemic) Nos | |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 | |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 | |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism | |
| Autoimmune Disease, Susceptibility To, 1 | |
| Autoimmune Disease, Susceptibility To, 6 | |
| Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea | |
| Autoimmune Endocrine Disease | |
| Autoimmune Enteropathy | |
| Autoimmune Gastritis | |
| Autoimmune Hemophilia | |
| Autoimmune Hepatitis | An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. |
| Autoimmune Hypoparathyroidism | |
| Autoimmune Hypophysitis | |
| Autoimmune Inflammation Of Skeletal Muscle | |
| Autoimmune Inner Ear Disease | |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease | |
| Autoimmune Limbic Encephalitis | |
| Autoimmune Liver Disease | |
| Autoimmune Lung Disease | |
| Autoimmune Lymphoproliferative Syndrome | A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. |
| Autoimmune Lymphoproliferative Syndrome, Type Iii | |
| Autoimmune Myocarditis | |
| Autoimmune Myopathy | |
| Autoimmune Nephritis | disease cluster belonging to disease group immune |
| Autoimmune Neuropathy | |
| Autoimmune Neutropenia | Autoimmune-induced neutropenia. |
| Autoimmune Pancreatitis | |
| Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia | |
| Autoimmune Polyglandular Syndrome | disease cluster belonging to disease group immune |
| Autoimmune Primary Adrenal Insufficiency | |
| Autoimmune Retinopathy | |
| Autoimmune Sensorineural Hearing Loss | |
| Autoimmune Skin Disease | |
| Autoimmune Thrombocytopenia | |
| Autoimmune Thrombotic Thrombocytopenic Purpura | |
| Autoimmune Thyroid Disease | disease cluster belonging to disease group immune |
| Autoimmune Thyroid Disease (Aitd) | |
| Autoimmune Thyroid Disease, Susceptibility To, 3 (Finding) | |
| Autoimmune Thyroid Disorder | |
| Autoimmune Thyroiditis | An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. |
| Autoimmune Urticaria | |
| Autoimmune Uveitis | |
| Autoimmune Vasculitis | |
| Autoinflammation | |
| Autoinflammatory Disease | |
| Autoinflammatory Disorder | |
| Autoinflammatory Syndrome | |
| Autoinflammatory Syndrome, Familial, Behcet-Like | |
| Autologous Graft Versus Host Disease | |
| Automimmune Polyendocrinopathy Syndrome | |
| Autonomic Bladder Dysfunction | Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. |
| Autonomic Dysreflexia | |
| Autonomic Hyperreflexia Of Bladder | |
| Autonomic Nervous System Imbalance | |
| Autonomic Neuropathy | |
| Autonomous Thyroid Function | |
| Autosomal Agammaglobulinemia With Absent B-Cells | |
| Autosomal Aneuploidy | |
| Autosomal Dominant Beta2-Microglobulinic Amyloidosis | |
| Autosomal Dominant Cerebellar Ataxia | |
| Autosomal Dominant Charcot-Marie-Tooth Disease | |
| Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome | |
| Autosomal Dominant Contiguous Gene Syndrome | |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder) | |
| Autosomal Dominant Epidermolysis Bullosa Simplex | |
| Autosomal Dominant Familial Dystonia | |
| Autosomal Dominant Focal Segmental Glomerulosclerosis | |
| Autosomal Dominant Hereditary Pancreatitis | |
| Autosomal Dominant Hyperinsulinism | |
| Autosomal Dominant Hypocalcemia | |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) | |
| Autosomal Dominant Hypophosphatemic Rickets | Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. |
| Autosomal Dominant Ichthyosis | |
| Autosomal Dominant Ichthyosis Vulgaris | |
| Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease With Neuropathic Pain | |
| Autosomal Dominant Juvenile Parkinson Disease | |
| Autosomal Dominant Keratitis | |
| Autosomal Dominant Late Onset Parkinson Disease | |
| Autosomal Dominant Lateral Temporal Lobe Epilepsy | |
| Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1A | |
| Autosomal Dominant Macrothrombocytopenia | |
| Autosomal Dominant Myotubular Myopathy | |
| Autosomal Dominant Neurohypophyseal Diabetes Insipidus | |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. |
| Autosomal Dominant Oculocutaneous Albinism | |
| Autosomal Dominant Optic Atrophy Plus Syndrome | |
| Autosomal Dominant Osteopetrosis | |
| Autosomal Dominant Parkinsonism | |
| Autosomal Dominant Retinitis Pigmentosa | |
| Autosomal Dominant Spondylocostal Dysostosis | |
| Autosomal Dominant Tubulointerstitial Kidney Disease | |
| Autosomal Dominant Vitreoretinochoroidopathy | |
| Autosomal Hemophilia A | |
| Autosomal Recessie Cerebellar Ataxia | |
| Autosomal Recessive Agammaglobulinemia | |
| Autosomal Recessive Centronuclear Myopathy | |
| Autosomal Recessive Cerebellar Ataxia Type 1 | |
| Autosomal Recessive Cerebral Atrophy | |
| Autosomal Recessive Chronic Granulomatous Disease | |
| Autosomal Recessive Congenital Methemoglobinemia Type I | |
| Autosomal Recessive Cutis Laxa Type 2B | |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | |
| Autosomal Recessive Facio-Digito-Genital Syndrome | |
| Autosomal Recessive Familial Dystonia | |
| Autosomal Recessive Hereditary Spastic Paraplegia | |
| Autosomal Recessive Hyperimmunoglobulin M Syndrome | |
| Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets | |
| Autosomal Recessive Ichthyosis | |
| Autosomal Recessive Limb Girdle Muscular Dystrophy | |
| Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset | |
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita | |
| Autosomal Recessive Ocular Albinism | |
| Autosomal Recessive Osteopetrosis | |
| Autosomal Recessive Parkinsonism | |
| Autosomal Recessive Polycystic Kidney Disease | |
| Autosomal Recessive Primary Microcephaly | |
| Autosomal Recessive Retinitis Pigmentosa | |
| Autosomal Recessive Scid | |
| Autosomal Recessive Sideroblastic Anemia | |
| Autosomal Recessive Spastic Paraplegia | |
| Autosomal Systemic Lupus Erythematosus | |
| Autotomy | |
| Avascular Necrosis | |
| Avascular Necrosis Of Femoral Head | |
| Avascular Retina | |
| Avellino Corneal Dystrophy | |
| Avitaminosis | |
| Awakening Epilepsy | |
| Axenfeld Anomaly (Disorder) | |
| Axenfeld Syndrome | |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities | |
| Axenfeld-Rieger Syndrome | An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. |
| Axenfeld-Rieger Syndrome, Type 1 | |
| Axenfeld-Rieger Syndrome, Type 3 | |
| Axial Hypermetropia | |
| Axial Malrotation Of The Kidney | An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. |
| Axial Myopathy | |
| Axial Myopia | |
| Axial Spondyloarthritis | |
| Axillary Vein Thrombosis | |
| Axillary Web Syndrome | |
| Axonal Neuropathy | |
| Axonal Sensorimotor Neuropathy | |
| Azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| Azoospermia, Nonobstructive | |
| Azotemia | An increased concentration of nitrogen compounds in the blood. |
| B Acute Lymphoblastic Leukemia | |
| B Lymphoblastic Leukemia Lymphoma | |
| B Lymphoblastic Lymphoma | |
| B Virus Infection | |
| B-Cell Aplasia | |
| B-Cell Expansion With Nfkb And T-Cell Anergy | |
| B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations | |
| B-Cell Lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| B-Cell Malignancy, Low-Grade | |
| B-Cell Small Lymphocytic Lymphoma Recurrent | |
| B-Immunoblastic Lymphoma (Kiel Classification) | |
| Babesiosis | A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. |
| Bacillus Infection | |
| Bacterascites | |
| Bacteremia | An infection that has as part bacteria located in the blood. |
| Bacterial Cholangitis | |
| Bacterial Diarrhoea | |
| Bacterial Endocarditis | A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. |
| Bacterial Keratitis | |
| Bacterial Otitis Media | |
| Bacterial Peritonitis | disease cluster belonging to disease group infection |
| Bacterial Prostatitis | |
| Bacterial Sepsis | |
| Bacterial Sepsis Of Newborn | |
| Bacterial Sinusitis | |
| Bacterial Vaginosis | A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. |
| Bacterial Ventriculitis | |
| Bacteroides Fragilis Infection In Conditions Classified Elsewhere And Of Unspecified Site | |
| Baff Polymorphism | |
| Bagassosis | An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. |
| Bainbridge-Ropers Syndrome | |
| Baker-Gordon Syndrome | |
| Bakers' Asthma | |
| Balkan Nephropathy | An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. |
| Baller-Gerold Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ballismus | |
| Balo'S Concentric Sclerosis | |
| Bamforth Syndrome | |
| Band Heterotopia | |
| Band Heterotopia Of Brain | |
| Bandemia | |
| Bannayan-Riley-Ruvalcaba Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Banti'S Syndrome | |
| Bap1 Tumor Predisposition Syndrome | |
| Bar-Biting | |
| Baraitser Brett Piesowicz Syndrome | |
| Baraitser-Winter Syndrome 2 | |
| Barakat Syndrome | |
| Baratela-Scott Syndrome | |
| Barber Say Syndrome | |
| Barbiturate Withdrawal | |
| Bardet-Biedl Syndrome | An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
| Bare Lymphocyte Syndrome | |
| Barrett Epithelium | |
| Barrett Esophagus | |
| Barrett Esophagus/Esophageal Adenocarcinoma | |
| Barrett'S Adenocarcinoma | |
| Bart'S Hemoglobinopathy | |
| Bartter Disease | |
| Bartter Syndrome | Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. |
| Basal Cell Adenocarcinoma Of Salivary Gland | |
| Basal Cell Cancer | |
| Basal Cell Carcinoma | A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471). |
| Basal Cell Neoplasm | |
| Basal Cell Nevus | |
| Basal Cell Nevus Syndrome | |
| Basal Encephalocele | |
| Basal Epidermolysis Bullosa Simplex | |
| Basal Ganglia Calcification | A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. |
| Basal Ganglia Cysts | |
| Basal Ganglia Disease, Biotin-Responsive | |
| Basal Ganglion Degeneration | |
| Basal Laminar Drusen (Disorder) | |
| Basal-Like Breast Carcinoma | |
| Basaloid Carcinoma | |
| Basaloid Carcinoma Of The Anus | |
| Basaloid Squamous Cell Carcinoma | A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. |
| Basan Syndrome | |
| Basaran Yilmaz Syndrome | |
| Basel-Vanagaite-Smirin-Yosef Syndrome | |
| Basilar Artery Occlusion | |
| Basilar Artery Stenosis | |
| Basilar Artery Thrombosis | |
| Basilar Invagination | |
| Basilar-Type Migraine | |
| Basophilia | |
| Basophilic Leukemia | |
| Bat Ear | |
| Bathing Suit Ichthyosis | |
| Bb Leprosy | |
| Bcg Infection | |
| Bclc Stage A Hepatocellular Carcinoma | |
| Beading Of Ribs | |
| Becker Generalized Myotonia | |
| Becker Muscular Dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Becker Nevus Syndrome | |
| Beckwith-Wiedemann Syndrome | A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. |
| Bedwetting | |
| Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors | |
| Behavioral Tic | |
| Behavioral Variant Of Frontotemporal Dementia | |
| Behavioural And Psychiatric Symptoms Of Dementia | |
| Behcet Syndrome | |
| Behcet'S Uveitis | |
| Behr Syndrome | |
| Bejel | |
| Bell Palsy | |
| Belpharocheilodontic Syndrome | |
| Benign Adult Familial Myoclonic Epilepsy | |
| Benign Chondrogenic Neoplasm | |
| Benign Concentric Annular Macular Dystrophy | |
| Benign Congenital Hypotonia | |
| Benign Congenital Myopathy | |
| Benign Cyst Of Ovary | |
| Benign Cystic Nephroma | |
| Benign Dermal Neoplasm | |
| Benign Endometrial Hyperplasia | |
| Benign Endometrial Stromal Neoplasm | |
| Benign Epithelial Tumor Of Ovary | |
| Benign Essential Blepharospasm | Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will. |
| Benign Familial Convulsion | |
| Benign Familial Mesial Temporal Lobe Epilepsy | |
| Benign Focal Epilepsy, Childhood | |
| Benign Genitourinary Tract Neoplasm | A non-malignant neoplasm of the genitourinary system. |
| Benign Hematuria | |
| Benign Hereditary Chorea | |
| Benign Infantile Myoclonic Epilepsy | |
| Benign Lymphocytic Infiltration Of Jessner | |
| Benign Lymphoepithelial Lesion Of Lacrimal Gland | |
| Benign Lymphoproliferative Disorder | |
| Benign Mastocytoma | |
| Benign Melanocytic Nevus | |
| Benign Meningioma | |
| Benign Mesenchymoma | |
| Benign Mixed Epithelial And Stromal Tumor Of Kidney | |
| Benign Multiple Sclerosis | |
| Benign Neonatal Epilepsy | |
| Benign Neonatal Epilepsy, Nonfamilial | |
| Benign Neoplasm Of Adrenal Gland | |
| Benign Neoplasm Of Bladder | |
| Benign Neoplasm Of Brain, Unspecified | |
| Benign Neoplasm Of Breast | |
| Benign Neoplasm Of Colon | |
| Benign Neoplasm Of Esophagus | |
| Benign Neoplasm Of Kidney | |
| Benign Neoplasm Of Large Intestine | |
| Benign Neoplasm Of Liver | |
| Benign Neoplasm Of Lung | |
| Benign Neoplasm Of Meninges | |
| Benign Neoplasm Of Pituitary Gland | |
| Benign Neoplasm Of Prostate | |
| Benign Neoplasm Of Stomach | |
| Benign Neoplasm Of Sweat Gland | |
| Benign Neoplasm Of Testis | |
| Benign Neoplasm Of Thyroid Gland | |
| Benign Neoplasm Of Uterus | |
| Benign Neuroendocrine Tumor | |
| Benign Occipital Epilepsy | |
| Benign Ovarian Neoplasm | |
| Benign Paroxysmal Positional Vertigo | |
| Benign Pheochromocytoma | |
| Benign Prostatic Hyperplasia | A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.|A disease caused by hyperplastic process of non-transformed prostatic cells.|Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both. |
| Benign Recurrent Intrahepatic Cholestasis | |
| Benign Rolandic Epilepsy | |
| Benign Samaritan Congenital Myopathy | |
| Benign Schwannoma | |
| Benign Struma Ovarii | |
| Benign Supratentorial Neoplasms | |
| Benign Teratoma | |
| Benign Teratoma Of Ovary | |
| Benign Thyroid Nodule | |
| Benign Tumor Of Pancreas | |
| Benign Tumor Of Salivary Gland | |
| Benign Vascular Neoplasm | |
| Bent Bone Dysplasia | |
| Bent Bone Dysplasia Group | |
| Bent Bone Dysplasia Syndrome | |
| Beriberi | |
| Bernard-Soulier Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Berry Aneurysm | |
| Berylliosis | A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. |
| Beryllium Disease | disease cluster belonging to disease group other |
| Besnoitiasis | |
| Best Vitelliform Macular Dystrophy, Multifocal (Disorder) | |
| Bestrophinopathy | OMIM mapping confirmed by DO. [SN]. |
| Beta Haemolytic Streptococcal Infection | |
| Beta Thalassemia | A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. |
| Beta Thalassemia Intermedia | |
| Beta Thalassemia Minor | |
| Beta Thalassemia Trait | |
| Beta Thalassemia, Dominant Inclusion Body Type | |
| Beta Thalassemia, Heterozygous | |
| Beta-Aminoisobutyric Acid, Urinary Excretion Of | |
| Beta-Catenin-Activated Hepatocellular Adenoma | |
| Beta-Galactosidase Deficiency | |
| Beta-Hexosaminidase A, Pseudodeficiency Of | |
| Beta-Hydroxyisobutyryl Coa Deacylase Deficiency | |
| Beta-Knossos-Thalassemia | |
| Beta-Malay-Thalassemia | |
| Beta-Mannosidosis | A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. |
| Beta-Plus-Thalassemia, Dominant | |
| Beta-Sarcoglycanopathy | |
| Beta-Showa-Yakushiji Thalassemia | |
| Beta-Thalassemia | |
| Beta-Ureidopropionase Deficiency | Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). |
| Beta^+^ Thalassemia | |
| Beta^0^ Thalassemia | |
| Bethlem Myopathy | OMIM mapping confirmed by DO. [SN]. |
| Biallelic Rpe65 Mutation Associated Retinal Dystrophy | |
| Bicornuate Uterus | The presence of a bicornuate uterus. |
| Bicoronal Craniosynostosis | |
| Bicoronal Synostosis | |
| Bicuspid Aortic Valve | The presence of an aortic valve with two instead of the normal three cusps (flaps). |
| Bicuspid Pulmonary Valve | The presence of a bicuspid pulmonary valve. |
| Bidirectional Tachycardia | |
| Bietti Crystalline Corneoretinal Dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Bifid Distal Phalanx Of Toe | |
| Bifid Epiglottis | A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. |
| Bifid Femur | A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. |
| Bifid Nose | Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. |
| Bifid Scrotum | Midline indentation or cleft of the scrotum. |
| Bifid Tongue | Tongue with a median apical indentation or fork. |
| Bifid Ureter | Incomplete duplication of the ureter. |
| Bifid Uvula | Uvula separated into two parts most easily seen at the tip. |
| Bilateral Agenesis | |
| Bilateral Arterial Duct | |
| Bilateral Breast Cancer | A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. |
| Bilateral Breast Hypoplasia | |
| Bilateral Camptodactyly | |
| Bilateral Carpal Tunnel Syndrome | |
| Bilateral Cataracts (Disorder) | |
| Bilateral Cerebral Palsy | |
| Bilateral Choanal Atresia | |
| Bilateral Choanal Atresia/Stenosis | |
| Bilateral Cleft Lip | A non-midline cleft of the upper lip on the left and right sides. |
| Bilateral Congenital Dislocation Of Hip | |
| Bilateral Cryptorchidism | Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis. |
| Bilateral Facial Muscle Weakness | |
| Bilateral Fetal Pyelectasis | |
| Bilateral Foot Drop | |
| Bilateral Glaucoma | |
| Bilateral Hydronephrosis | |
| Bilateral Inguinal Hernia | |
| Bilateral Lung Agenesis | Bilateral lack of development of the lungs. |
| Bilateral Malignant Neoplasm | |
| Bilateral Microphthalmos | A developmental anomaly characterized by abnormal smallness of both eyes. |
| Bilateral Multicystic Dysplastic Kidneys | |
| Bilateral Nanophthalmos | |
| Bilateral Nasal Obstruction | |
| Bilateral Optic Neuritis | |
| Bilateral Periventricular Nodular Heterotopia | |
| Bilateral Pheochromocytoma And Islet Cell Adenoma Of The Pancreas | |
| Bilateral Polymicrogyria | |
| Bilateral Postaxial Polydactyly | |
| Bilateral Renal Artery Stenosis | |
| Bilateral Renal Dysplasia | |
| Bilateral Renal Hypoplasia | |
| Bilateral Sensory Hearing Loss | |
| Bilateral Superior Oblique Palsy | |
| Bilateral Triphalangeal Thumbs | A bilateral form of triphalangeal thumb. |
| Bilateral Vestibulopathy | |
| Bilateral Vocal Cord Paralysis | |
| Bilateral Wilms Tumor | |
| Bile Acid Coa Ligase Deficiency And Defective Amidation | |
| Bile Acid Diarrhea | |
| Bile Acid Malabsorption | |
| Bile Acid Malabsorption, Primary | |
| Bile Acid Synthesis Defect | |
| Bile Duct Adenocarcinoma | A bile duct carcinoma that derives_from epithelial cells of glandular origin. |
| Bile Duct Adenoma | An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. |
| Bile Duct Cancer Resectable | |
| Bile Duct Carcinoma | A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Bile Duct Cystadenocarcinoma | |
| Bile Duct Hyperplasia | |
| Bile Duct Proliferation | Proliferative changes of the bile ducts. |
| Bile Duct Stenosis | |
| Bile Reflux | |
| Biliary Acute Pancreatitis | |
| Biliary Adenoma | |
| Biliary Atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| Biliary Atresia With Splenic Malformation Syndrome | |
| Biliary Carcinoma | |
| Biliary Cirrhosis | liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts |
| Biliary Cirrhosis, Primary, 1 | |
| Biliary Hamartoma | |
| Biliary Hyperplasia | Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. |
| Biliary Intraepithelial Neoplasia | |
| Biliary Papillomatosis | A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. |
| Biliary Sludge | |
| Biliary Stricture | |
| Biliary System Disorder | |
| Biliary Tract Cancer | A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. |
| Biliary Tract Carcinoma | |
| Biliary Tract Neoplasm | A hepatobiliary benign neoplasm located_in the biliary tract. |
| Bilobate Gallbladder | The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. |
| Biloma | |
| Bing-Neel Syndrome | |
| Binswanger Disease | |
| Biotin Deficiency | |
| Biotin Deficiency Disease | |
| Biotin-Dependent Carboxylase Deficiency, Unspecified | |
| Biotin-Responsive Encephalopathy | |
| Biotinidase Deficiency | A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
| Biphasic Pulmonary Blastoma | |
| Bipolar Disorder | A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH). |
| Bipolar Type I Disorder | |
| Birbeck Granule Deficiency | |
| Birch Pollen Allergy | |
| Birdshot Chorioretinitis | |
| Birdshot Chorioretinopathy | Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. |
| Birk-Barel Mental Retardation Dysmorphism Syndrome | |
| Birk-Landau-Perez Syndrome | |
| Bisphosphonate-Associated Osteonecrosis | |
| Biventricular Congestive Heart Failure | |
| Biventricular Dilatation | |
| Biventricular Hypertrophy | |
| Bizarre Leiomyoma | |
| Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency | |
| Bk Virus Infection | |
| Bk Virus Nephropathy | |
| Bladder Adenocarcinoma | A bladder carcinoma that derives_from epithelial cells of glandular origin. |
| Bladder Cancer | |
| Bladder Cancer, Transitional Cell, Somatic | |
| Bladder Diverticulum | OMIM mapping confirmed by DO. [SN]. |
| Bladder Dysplasia | |
| Bladder Exstrophy | Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall |
| Bladder Exstrophy And Epispadias Complex | |
| Bladder Hyperplasia | |
| Bladder Neck Obstruction | |
| Bladder Neoplasm | The presence of a neoplasm of the urinary bladder. |
| Bladder Outflow Obstruction | |
| Bladder Pain | |
| Bladder Papilloma | |
| Bladder Paraganglioma | |
| Bladder Polyp | |
| Bladder Squamous Cell Carcinoma | A carcinoma of bladder that is manifested in squamous cells of the bladder. |
| Bladder Trabeculation | |
| Bladder Wall Thickening | |
| Blast Cell Leukemia | |
| Blast Phase | |
| Blastema Predominant Wilms Tumor | |
| Blastic Plasmacytoid Dendritic Cell Neoplasm | |
| Blastic Plasmacytoid Dendritic Cell Neoplasm (Bpdcn) | |
| Blastoid Variant Mantle Cell Lymphoma | |
| Blastoma | A malignant neoplasm composed of undifferentiated cells. |
| Blastomycosis | A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. |
| Bleeding Disorder | |
| Bleeding Disorder, Platelet-Type | |
| Bleeding Esophageal Varices | |
| Bleeding Ulcer | |
| Blepharitis | An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. |
| Blepharo-Cheilo-Dontic Syndrome | |
| Blepharochalasis | |
| Blepharophimosis | |
| Blepharoptosis | |
| Blepharospasm | A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. |
| Blind Loop Syndrome | |
| Blind Vagina | |
| Blindness | |
| Blister With Infection | |
| Bloch Sulzberger Syndrome | |
| Blomstrand Dysplasia | |
| Blood Group Deletion Syndrome | |
| Blood Group Incompatibility | |
| Blood Spots | |
| Blood Type Incompatibility | |
| Bloom Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Blue Rubber Bleb Nevus Syndrome | |
| Bluetongue Infection | |
| Bmpr1A-Related Juvenile Polyposis | |
| Bnar Syndrome | BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms). |
| Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency | |
| Boerhaave Syndrome | |
| Bohring Syndrome | |
| Boichis Syndrome | |
| Bone Cysts | |
| Bone Cysts, Aneurysmal | |
| Bone Demineralization, Pathologic | |
| Bone Destruction | |
| Bone Epithelioid Hemangioma | |
| Bone Fibrosarcoma | |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness | |
| Bone Island | |
| Bone Marrow Depression | |
| Bone Marrow Dysplasia | |
| Bone Marrow Failure Syndrome | |
| Bone Marrow Failure Syndromes | |
| Bone Marrow Infiltration | |
| Bone Marrow Myeloid Dysplasia | |
| Bone Marrow Suppression | |
| Bone Marrow Toxicity | |
| Bone Surface (Peripheral) Osteosarcoma | |
| Bone Tuberculosis | |
| Bone Xanthoma | |
| Bonnevie-Ullrich Syndrome | |
| Boomerang Dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Border Disease | |
| Borderline Epithelial Tumor Of Ovary | |
| Borderline Hypertension | |
| Borderline Intellectual Disability | |
| Borderline Lepromatous Leprosy | |
| Borderline Leprosy | A leprosy that results in small numerous red irregularly shaped plaques. |
| Borderline Mucinous Tumour Of Ovary | |
| Borderline Ovarian Tumour | |
| Borderline Personality Disorder | A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. |
| Borderline Tuberculoid Leprosy | |
| Borjeson-Forssman-Lehmann Syndrome | An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. |
| Borna Disease | A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. |
| Bornholm Eye Disease | |
| Borrone Di Rocco Crovato Syndrome | |
| Bosley-Salih-Alorainy Syndrome | |
| Bothnia Retinal Dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Botryoid Odontogenic Cyst | |
| Botryoid Rhabdomyosarcoma | |
| Botryoid-Type Embryonal Rhabdomyosarcoma | |
| Boutonneuse Fever | A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. |
| Bovine Anaplasmosis | |
| Bovine Protoporphyria | |
| Bowel Diverticulosis | The presence of multiple diverticula of the intestine. |
| Bowel Dysfunction | |
| Bowen'S Disease | |
| Bowen'S Disease, Pagetoid | |
| Bowen-Conradi Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bowenoid Papulosis | |
| Bowenoid Papulosis Of Penis | |
| Bpes | |
| Bpes With Duane Retraction Syndrome | |
| Bpes With Ovarian Failure | |
| Bpes Without Ovarian Failure | |
| Bpes, Type I, Autosomal Recessive | |
| Brachial Amyotrophic Diplegia | |
| Brachial Artery Occlusion | |
| Brachial Neuralgia | |
| Brachial Plexus Lesion | A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. |
| Brachial Plexus Neuritis | |
| Brachycephaly | An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. |
| Brachycephaly, Trichomegaly, And Developmental Delay | |
| Brachydactyly | A bone development disease characterized by short fingers and toes. |
| Brachydactyly-Syndactyly Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Brachymesophalangia | |
| Brachymetacarpia | |
| Brachyolmia | An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. |
| Brachyolmia Type 3 | |
| Brachytelephalangic Chondrodysplasia Punctata | |
| Bradyarrhythmia (Disorder) | |
| Bradycardia-Tachycardia Syndrome | |
| Brain Abscess | A collection of pus, immune cells, and other material in the brain. |
| Brain Aneurysm | |
| Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia | |
| Brain Atrophy | Partial or complete wasting (loss) of brain tissue that was once present. |
| Brain Calcification Rajab Type | |
| Brain Cyst | |
| Brain Damage, Chronic | |
| Brain Dopamine-Serotonin Vesicular Transport Disease | |
| Brain Embolism And Thrombosis | |
| Brain Ependymoma | |
| Brain Glioblastoma | |
| Brain Hemangioma | |
| Brain Infarction | |
| Brain Ischemia | |
| Brain Malformations With Or Without Urinary Tract Defects | |
| Brain Necrosis | |
| Brain Small Vessel Disease | |
| Brain Small Vessel Disease With Axenfeld-Rieger Anomaly | |
| Brain Stem Glioblastoma | |
| Brain Stem Glioma | |
| Brain Stem Ischemia, Transient | |
| Brain Stem Neoplasms, Primary | |
| Brain Thrombosis | |
| Brain Thrombus | |
| Brain Tumor, Primary | |
| Brain Tumor-Polyposis Syndrome 2 (Disorder) | |
| Brainstem Encephalitis | |
| Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency | |
| Branchial Anomaly | Congenital developmental defect arising from the primitive branchial apparatus. |
| Branchial Clefts-Congenital Disorder | |
| Branchio-Oculo-Facial Syndrome | |
| Branchio-Oto-Renal Syndrome | |
| Branchio-Skeleto-Genital Syndrome | |
| Branchioma | |
| Branchiootic Syndrome | A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. |
| Branchiootorenal Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Branchiootorenal Syndrome With Cataract | |
| Branchiotic Syndrome | |
| Brazilian Purpuric Fever | |
| Brca1 Syndrome | |
| Breakthrough Infection | |
| Breast Adenocarcinoma | A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. |
| Breast Adenolipoma | |
| Breast Adenomyoepithelioma | A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. |
| Breast Apocrine Adenosis | |
| Breast Cancer | A thoracic cancer that originates in the mammary gland. |
| Breast Cancer, Familial | disease cluster belonging to disease group cancer |
| Breast Cancer, Familial Male | |
| Breast Carcinoma | Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue. |
| Breast Carcinoma Metastatic In The Skin | |
| Breast Carcinoma With Choriocarcinomatous Features | |
| Breast Cyst | |
| Breast Diffuse Large B-Cell Lymphoma | |
| Breast Fibrocystic Change, Proliferative Type | |
| Breast Fibrocystic Disease | |
| Breast Implant-Associated Anaplastic Large Cell Lymphoma | |
| Breast Liposarcoma | |
| Breast Lymphoma | |
| Breast Microglandular Adenosis | |
| Breast Mucosa-Associated Lymphoid Tissue Lymphoma | |
| Breast Phyllodes Tumor | |
| Breast Sclerosing Adenosis | |
| Breast Small Cell Carcinoma | |
| Breast-Ovarian Cancer | |
| Breastfeeding Jaundice | |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 | |
| Brenner Tumor | |
| Bridged Palmar Crease | |
| Bright Disease | |
| Brisket Disease | |
| Brittle Bone Disorder | |
| Brittle Cornea Syndrome 2 | |
| Brittle Diabetes | |
| Brittle Hair | Fragile, easily breakable hair, i.e., with reduced tensile strength. |
| Broad Autism Phenotype | |
| Broad Distal Phalanges Of All Fingers | Abnormally wide (broad) distal phalanx of finger of all fingers. |
| Broad Distal Phalanx Of The Hallux | An increase in width of the distal phalanx of the big toe. |
| Broad Hallux Phalanx | An increase in width in one or more phalanges of the big toe. |
| Broad Long Bone Diaphyses | |
| Broad Metacarpal Epiphyses | Increased side-to-side width of the metacarpal epiphyses. |
| Broad Middle Phalanx Of Finger | Increased width of the middle phalanx of finger. |
| Broad Phalanges Of The 5Th Finger | |
| Broad Phalanges Of The Hand | Increased width of the phalanges of the hand. |
| Broad Ulna | Increased width of the ulna. |
| Broca Aphasia | |
| Brodie'S Abscess | |
| Brody Myopathy | OMIM mapping confirmed by DO. [SN]. |
| Bromhidrosis | |
| Bronchial Adenocarcinoma | |
| Bronchial Artery Aneurysm | |
| Bronchial Carcinoid | |
| Bronchial Dysplasia | |
| Bronchial Fistula | |
| Bronchial Hyperreactivity | |
| Bronchial Obstruction | |
| Bronchial Wall Thickening | |
| Bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. |
| Bronchiolitis | A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. |
| Bronchiolitis Obliterans | A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. |
| Bronchiolitis Obliterans Organizing Pneumonia | An obstructive lung disease that involves granulation tissue plugs within lumens of small airways, sometimes with complete obstruction of small airways and granulation tissue extending into alveolar ducts and alveoli. |
| Bronchiolitis, Exudative | |
| Bronchiolitis, Proliferative | |
| Bronchiolitis, Viral | |
| Bronchioloalveolar Adenocarcinoma | |
| Bronchitis | A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. |
| Bronchitis In Children | |
| Bronchitis, Chronic | |
| Bronchogenic Carcinoma | |
| Bronchomalacia | |
| Bronchopleural Fistula | |
| Bronchopneumonia | A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. |
| Bronchopulmonary Aspergillosis | disease cluster belonging to disease group unknown |
| Bronchopulmonary Disease | |
| Bronchopulmonary Dysplasia | Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. |
| Bronchopulmonary Infection | |
| Bronchopulmonary Sequestration | The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree. |
| Bronchospasm | |
| Bronchospasm, Exercise-Induced | |
| Brooke-Spiegler Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Brown Oculocutaneous Albinism | |
| Brown Tendon Sheath Syndrome | |
| Brown Tumor Of Hyperparathyroidism | |
| Brown-Vialetto-Van Laere Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Brown-Vialetto-Van Laere Syndrome 2 | |
| Brucella Melitensis Infection | |
| Brucellosis | A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. |
| Brucellosis In Animals | |
| Brucellosis, Pulmonary | |
| Bruck Syndrome | |
| Brugada Syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| Brugada Syndrome 9 | |
| Brunner Syndrome | |
| Bubonic Plague | A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. |
| Budd-Chiari Syndrome | |
| Buffalo Hump | |
| Bulbar Palsy | Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. |
| Bulbar Weakness | |
| Bulbo-Spinal Atrophy, X-Linked | |
| Bulbospinal Neuronopathy | |
| Bulbospinal Neuronopathy, X-Linked Recessive | |
| Bulbous Tips Of Toes | An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. |
| Bulimia | A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). |
| Bulimia Nervosa | An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING. |
| Bull'S Eye Macular Dystrophy | |
| Bulla Of Lung | |
| Bullet-Shaped Distal Phalanx Of The Hallux | |
| Bullet-Shaped Middle Phalanges Of The Hand | Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. |
| Bullous Impetigo | |
| Bullous Keratopathy | |
| Bullous Pemphigoid | An autoimmune disease of skin and connective tissue characterized by large blisters. |
| Bullous Staphylococcal Impetigo | |
| Bullous Systemic Lupus Erythematosus | |
| Bundle-Branch Block | |
| Bunion | |
| Buphthalmos | OMIM mapping confirmed by DO. [LS]. |
| Buried Penis | |
| Burkholderia Cenocepacia Infection | |
| Burkholderia Cepacia Infection | |
| Burkholderia Multivorans Infection | |
| Burkitt Leukemia | |
| Burkitt Lymphoma | A mature B-cell neoplasm of B-cells found in the germinal center. |
| Burn Infection | |
| Burn Scar | |
| Burn-Mckeown Syndrome | |
| Burnett Schwartz Berberian Syndrome | |
| Burning Mouth Syndrome | |
| Bursitis | |
| Buruli Ulcer | |
| Buruli Ulcer, Susceptibility To | |
| Butterfly-Shaped Pigmentary Macular Dystrophy | |
| Butyrylcholinesterase Deficiency | |
| Byssinosis | |
| Byzanthine Arch Palate | |
| C Cell Tumor | |
| C-Cell Hyperplasia Of Thyroid | |
| C1-C2 Vertebral Abnormality | Any abnormality of the atlas and the axis. |
| C1Q Deficiency | |
| C3 Glomerulonephritis | |
| C3 Glomerulopathy | |
| C4 Deficiency | |
| C5 Palsy | |
| C7 And C6 Deficiency, Combined Subtotal | |
| C9 Deficiency | |
| Cacosmia | |
| Cadasil Syndrome | |
| Cadasilm | |
| Cadmium Poisoning | |
| Cafe-Au-Lait Macules With Pulmonary Stenosis | |
| Cafe-Au-Lait Spots | |
| Caffeine Withdrawal | |
| Cakut | |
| Calcaneal Apophysitis | |
| Calcaneovalgus Deformity | This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). |
| Calcific Stenosis | |
| Calcific Tendinitis | |
| Calcification Of Falx Cerebri | The presence of calcium deposition in the falx cerebri. |
| Calcification Of Joints And Arteries | |
| Calcification Of Mitral Valve | |
| Calcification Of Muscle | |
| Calcification Of Trachea | |
| Calcified Aneurysm | |
| Calcifying Aponeurotic Fibroma | |
| Calcifying Cyst | |
| Calcifying Epithelial Odontogenic Tumor | |
| Calcifying Fibrous Pseudotumor | |
| Calcifying Odontogenic Cyst | |
| Calcineurin Inhibitor Induced Pain Syndrome | |
| Calcineurin Nephrotoxicity | |
| Calcinosis Cutis | |
| Calcinosis Universalis | |
| Calciphylaxis | |
| Calcium Deficiency | |
| Calcium Oxalate Kidney Stones | |
| Calcium Pyrophosphate Arthropathy | |
| Calcium Pyrophosphate Deposition Disease | |
| Caliectasis | |
| Call-Fleming Syndrome | |
| Calorie Overload | |
| Calvarial Skull Defect | |
| Camfak Syndrome | |
| Campomelic Dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. |
| Campomelic Dysplasia With Autosomal Sex Reversal | |
| Camptocormia | |
| Camptodactyly Of Toe | Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome | |
| Camptosynpolydactyly, Complex | |
| Campylobacter Infection | |
| Campylobacter Jejuni Infection | |
| Camurati-Engelmann Syndrome | |
| Canalicular Adenoma | |
| Canarypox (Disorder) | |
| Canavan Disease | OMIM mapping confirmed by DO. [SN]. |
| Cancer And Pregnancy | |
| Cancer Cachexia | |
| Cancer Of Digestive System | |
| Cancer Of Head | |
| Cancer Of Lip | |
| Cancer Of Lymph Node | |
| Cancer Of Nasopharynx | |
| Cancer Of Neck | |
| Cancer Of Nose | |
| Cancer Of Urinary Tract | |
| Cancer Other | |
| Cancer Relapse | |
| Cancer, Embryonal And Mixed | |
| Cancer, Supratentorial | |
| Cancer-Associated Retinopathy | |
| Cancer-Associated Thrombosis | |
| Cancerophobia | |
| Candida Endophthalmitis | |
| Candida Sepsis | |
| Candidemia | |
| Candidiasis | An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. |
| Candidiasis Of The Esophagus | |
| Candidiasis Of Vagina | |
| Candidiasis, Chronic Mucocutaneous | |
| Candidiasis, Familial, 2 | |
| Candidiasis, Vulvovaginal | |
| Cannabis Abuse | A substance abuse that involves the recurring use of cannabis despite negative consequences. |
| Cannabis Dependence | A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. |
| Cannabis Use | |
| Cannabis Withdrawal | |
| Cantu Syndrome | |
| Cap Myopathy | |
| Cap Myopathy 2 | |
| Cap Myopathy, Tpm2-Related | |
| Cap Myopathy, Tpm3-Related (Disorder) | |
| Cap Polyposis | |
| Capillariasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. |
| Capillaritis | |
| Capillary Fragility | |
| Capillary Hemangioma Of Retina | |
| Capillary Hyperpermeability | |
| Capillary Leak Syndrome | |
| Capillary Malformation (Disorder) | |
| Capillary Malformation Without Arteriovenous Malformation | |
| Capillary Malformation-Arteriovenous | |
| Capillary Thrombosis | |
| Capillary-Venous Malformation | |
| Caplan Syndrome | |
| Capnocytophaga Canimorsus Sepsis | |
| Capos Syndrome | |
| Capsular Cataract (Disorder) | |
| Carbamoyl Phosphate Synthase 1 Deficiency | |
| Carbamoyl-Phosphate Synthase I Deficiency Disease | |
| Carbohydrate Deficient Glycoprotein Syndrome Type 1O | |
| Carbohydrate Deficient Glycoprotein Syndrome Type 2K | |
| Carbohydrate Intolerance | |
| Carbon Monoxide Poisoning | disease cluster belonging to disease group unknown |
| Carbonic Anhydrase Defciency | |
| Carboxypeptidase N Deficiency | |
| Carbuncle/Furuncle | |
| Carcinoid Crisis | |
| Carcinoid Heart Disease | |
| Carcinoid Tumor Of Intestine | |
| Carcinoid Tumor Of Lung | |
| Carcinoid Tumour Of The Liver | |
| Carcinoid, Goblet Cell | |
| Carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| Carcinoma Bone | |
| Carcinoma Breast | |
| Carcinoma Ex Pleomorphic Adenoma | |
| Carcinoma In Situ Of Anus | |
| Carcinoma In Situ Of Bladder | |
| Carcinoma In Situ Of Bronchus | |
| Carcinoma In Situ Of Endometrium | |
| Carcinoma In Situ Of Esophagus | |
| Carcinoma In Situ Of Fallopian Tube | |
| Carcinoma In Situ Of Lung | |
| Carcinoma In Situ Of Mouth | |
| Carcinoma In Situ Of Penis | |
| Carcinoma In Situ Of Prostate | |
| Carcinoma In Situ Of Stomach | |
| Carcinoma In Situ Of Uterine Cervix | |
| Carcinoma Metastatic To The Skin | |
| Carcinoma Of Ampulla Of Vater | |
| Carcinoma Of Anal Canal | |
| Carcinoma Of Anal Margin | |
| Carcinoma Of Base Of Tongue | |
| Carcinoma Of Bladder | |
| Carcinoma Of Endocrine Gland | |
| Carcinoma Of Extrahepatic Bile Duct | |
| Carcinoma Of Glottis | |
| Carcinoma Of Larynx | |
| Carcinoma Of Lung | |
| Carcinoma Of Male Breast | |
| Carcinoma Of Peritoneum | |
| Carcinoma Of Supraglottis | |
| Carcinoma Of The Renal Pelvis And Ureter | |
| Carcinoma Of Unknown Primary | |
| Carcinoma Of Urinary Bladder, Invasive | |
| Carcinoma Of Urinary Bladder, Superficial | |
| Carcinoma Of Vocal Cord | |
| Carcinoma Of Vulva | |
| Carcinoma Sarcoma | |
| Carcinoma Showing Thymus-Like Element | |
| Carcinoma Testes | |
| Carcinoma, Adrenocortical, Androgen-Secreting | |
| Carcinoma, Basal Cell | |
| Carcinoma, Basosquamous | |
| Carcinoma, Cribriform | |
| Carcinoma, Ehrlich Tumor | |
| Carcinoma, Endometrioid | |
| Carcinoma, Giant Cell | |
| Carcinoma, Granular Cell | |
| Carcinoma, Large Cell | |
| Carcinoma, Lewis Lung | |
| Carcinoma, Lobular | |
| Carcinoma, Neuroendocrine | |
| Carcinoma, Ovarian Epithelial | |
| Carcinoma, Pancreatic Ductal | |
| Carcinoma, Papillary | |
| Carcinoma, Signet Ring Cell | |
| Carcinoma, Small Cell | |
| Carcinoma, Spindle-Cell | |
| Carcinoma, Transitional Cell | |
| Carcinomatosis | |
| Carcinomatous Ascites | |
| Carcinosarcoma | A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. |
| Carcinosarcoma Of Lung | |
| Cardiac Angiosarcoma | |
| Cardiac Arrest | A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. |
| Cardiac Arrest In Children | |
| Cardiac Arrhythmia | Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. |
| Cardiac Autonomic Neuropathy | |
| Cardiac Carcinoma | |
| Cardiac Channelopathy | |
| Cardiac Conduction Defect | |
| Cardiac Conduction Defect, Nonprogressive | |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy | |
| Cardiac Dilatation | |
| Cardiac Diverticulum | |
| Cardiac Embolism | |
| Cardiac Epithelioid Hemangioendothelioma | |
| Cardiac Fibroma | A fibroma of the heart. |
| Cardiac Fibrosis | formation of fibrous tissue within the heart often resulting from inflammation or injury |
| Cardiac Glycogenosis | |
| Cardiac Infection | |
| Cardiac Iron Overload | |
| Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies | |
| Cardiac Paraganglioma | |
| Cardiac Rhabdomyoma | A benign tumor of cardiac striated muscle. |
| Cardiac Sarcoidosis | |
| Cardiac Sarcoma | |
| Cardiac Steatosis | |
| Cardiac Tamponade | A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. |
| Cardiac Valvular Defect, Developmental | |
| Cardiac Valvular Dysplasia, X-Linked | |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay | |
| Cardiac-Urogenital Syndrome | |
| Cardio-Facio-Cutaneous Syndrome | |
| Cardio-Renal Syndrome | |
| Cardioembolic Stroke | |
| Cardioembolism (High-Risk/Medium-Risk) | |
| Cardioencephalomyopathy | |
| Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency | |
| Cardiofaciocutaneous Syndrome | A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. |
| Cardiomyopathy | A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| Cardiotoxicity | |
| Cardiovascular Disease+Pulmonary Disease | |
| Cardiovascular Insufficiency | |
| Cardiovascular Pathology | |
| Carditis | |
| Caries (Morphologic Abnormality) | |
| Carnevale Syndrome | |
| Carney Complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. |
| Carney Triad | |
| Carnitine Palmitoyl Transferase 1A Deficiency | Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. |
| Carnitine Palmitoyl Transferase 2 Deficiency | |
| Carnitine Palmitoyltransferase Ii Deficiency | |
| Carnitine-Acylcarnitine Translocase Deficiency | Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. |
| Carnosinemia | |
| Caroli Disease | |
| Caroli Disease Isolated | |
| Carotid Artery Aneurysm | |
| Carotid Artery Calcification | |
| Carotid Artery Plaque | |
| Carotid Artery Thrombosis | |
| Carotid Artery, Internal, Dissection | |
| Carotid Atherosclerosis | disease cluster belonging to disease group cardiovascular |
| Carotid Body Paraganglioma | |
| Carotid Circulation Transient Ischemic Attack | |
| Carotid Disease | |
| Carotid Intimal Medial Thickness 1 | |
| Carotid Paraganglioma | |
| Carotid Pseudoaneurysm | |
| Carotid Stenosis | |
| Carotid-Cavernous Sinus Fistula | |
| Carpal Synostosis | Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). |
| Carpal Tunnel Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Carpal Tunnel Syndrome, Familial | |
| Carpenter Syndrome | An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. |
| Carrington Syndrome | |
| Cartilage-Hair Hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Cartilaginous Exostosis | |
| Caruncle | |
| Castleman Disease, Hyaline-Vascular Type | |
| Castration-Naive Prostate Carcinoma | |
| Castration-Sensitive Prostate Carcinoma | |
| Cat Eye Syndrome | |
| Cat-Scratch Disease | A primary bacterial infectious disease that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. |
| Catalase Deficiency | |
| Catalepsy | a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions |
| Catamenial Pneumothorax | |
| Cataplexy | A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. |
| Cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) |
| Catastrophic Antiphospholipid Syndrome | |
| Catastrophic Illness | |
| Catatonia | |
| Catatonia, Malignant | |
| Catatrichy | |
| Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 | |
| Catel Manzke Syndrome | |
| Catheter Infection | |
| Catshl Syndrome | |
| Cauda Equina Paraganglioma | |
| Cauda Equina Syndrome | A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. |
| Caudal Duplication Anomaly | |
| Caudal Dysplasia Syndrome | |
| Caudal Regression Syndrome | |
| Causalgia | |
| Cavernous Angioma, Central Nervous System | |
| Cavernous Hemangioma | |
| Cavernous Hemangioma Of Retina | |
| Cavernous Sinus Meningioma | |
| Cavernous Sinus Syndrome | |
| Cavernous Sinus Thrombosis | |
| Cavitary Optic Disc Anomalies | |
| Cavitation | |
| Cavitation Of Lung | |
| Cavitation Of The Basal Ganglia | The formation of small cavities in the tissue of the basal ganglia. |
| Cchs With Hirschsprung Disease | |
| Cd40 Ligand Deficiency | A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. |
| Cd59 Deficiency | |
| Cd8 Deficiency, Familial | |
| Cdags Syndrome | |
| Cecum Carcinoma | A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Celiac Disease | A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
| Celiac Disease In Children | |
| Cellular Angiofibroma | |
| Cellular Blue Nevus | |
| Cellular Congenital Mesoblastic Nephroma | |
| Cellular Ependymoma | |
| Cellular Fibroma | |
| Cellular Leiomyoma | |
| Cellular Myxoma | |
| Cellular Neurothekeoma | |
| Cellular Schwannoma | A neurilemmoma with a predominantly cellular growth but no Verocay bodies. |
| Cellulitis | |
| Cellulitis Superficial | |
| Cementoma | |
| Central Apnea | Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. |
| Central Areolar Choroidal Sclerosis | |
| Central Blindness | |
| Central Centrifugal Cicatricial Alopecia | |
| Central Core Disease, Autosomal Recessive | |
| Central Core Myopathy (Disorder) | |
| Central Diabetes Insipidus | |
| Central Hypogonadism | |
| Central Hypothyroidism | A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. |
| Central Nervous System Candidiasis | |
| Central Nervous System Demyelination | |
| Central Nervous System Depression (Disorder) | |
| Central Nervous System Embryonal Neoplasm | |
| Central Nervous System Embryonal Tumor, Not Otherwise Specified | |
| Central Nervous System Germinoma | |
| Central Nervous System Hemangioblastoma | |
| Central Nervous System Langerhans Cell Histiocytosis | |
| Central Nervous System Lesion | |
| Central Nervous System Leukaemia | |
| Central Nervous System Melanocytic Neoplasm | |
| Central Nervous System Melanoma | |
| Central Nervous System Metabolic Disorders | |
| Central Nervous System Neoplasms, Primary | |
| Central Nervous System Sensitization | |
| Central Neuroblastoma | |
| Central Neurocytoma | |
| Central Neuropathic Pain | |
| Central Odontogenic Fibroma | |
| Central Pain Syndrome | |
| Central Precocious Puberty | Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). |
| Central Retinal Artery Occlusion | A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. |
| Central Retinal Vein Occlusion | |
| Central Retinal Vein Occlusion - Juvenile | |
| Central Serous Chorioretinopathy | |
| Central Sleep Apnea Syndrome | |
| Central Topographic Island | |
| Central Visual Impairment | |
| Centriacinar Emphysema | |
| Centripetalis Recessive Dystrophic Epidermolysis Bullosa | |
| Centrocytic (Mantle Cell) Lymphoma (Kiel Classification) | |
| Centrocytic Lymphoma | |
| Centronuclear Myopathy | A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. |
| Cerebellar Agenesis | |
| Cerebellar Ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| Cerebellar Atrophy | Atrophy (wasting) of the cerebellum. |
| Cerebellar Cognitive Affective Syndrome | |
| Cerebellar Cortical Atrophy | Atrophy (wasting) of the cerebellar cortex. |
| Cerebellar Cortical Dysplasia | |
| Cerebellar Decompression Injury | |
| Cerebellar Degeneration | |
| Cerebellar Degeneration, Subacute | |
| Cerebellar Degenerations, Primary | |
| Cerebellar Edema | |
| Cerebellar Function | |
| Cerebellar Glioblastoma | |
| Cerebellar Granule Cell Hypertrophy And Megalencephaly | |
| Cerebellar Hemangioblastoma | A 'hemangioblastoma of the cerebellum. |
| Cerebellar Hemisphere Hypoplasia | |
| Cerebellar Hypoplasia | Underdevelopment of the cerebellum. |
| Cerebellar Infarction | |
| Cerebellar Ischaemia | |
| Cerebellar Lesion Nos | |
| Cerebellar Liponeurocytoma | |
| Cerebellar Malformation | |
| Cerebellar Medulloblastoma | A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. |
| Cerebellar Stroke | |
| Cerebellitis | |
| Cerebellofaciodental Syndrome | |
| Cerebelloparenchymal Disorder Vi | |
| Cerebellopontine Angle Tumor | |
| Cerebral Abscess | |
| Cerebral Adrenoleukodystrophy | |
| Cerebral Amyloid Angiopathy | An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. |
| Cerebral Amyloid Angiopathy, Genetic | |
| Cerebral Amyloid Angiopathy, Gsn-Related | |
| Cerebral Amyloid Angiopathy, Hereditary | |
| Cerebral Aneurysm | |
| Cerebral Angiitis | |
| Cerebral Arterial Aneurysm | |
| Cerebral Arterial Thrombosis | |
| Cerebral Arteriopathy | disease cluster belonging to disease group cardiovascular |
| Cerebral Arteriosclerosis | |
| Cerebral Arteritis | |
| Cerebral Artery Atherosclerosis | |
| Cerebral Artery Occlusion | |
| Cerebral Artery Stenosis | |
| Cerebral Astrocytoma | |
| Cerebral Ataxia | |
| Cerebral Atherosclerosis | |
| Cerebral Atrophy | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts And Leukoencephalopathy | |
| Cerebral Cavernous Hemangioma | |
| Cerebral Cavernous Malformations 1 | |
| Cerebral Cavernous Malformations 2 | |
| Cerebral Cavernous Malformations 3 | |
| Cerebral Convexity Meningioma | |
| Cerebral Cortex Myoclonus | |
| Cerebral Cortical Atrophy | Atrophy of the cortex of the cerebrum. |
| Cerebral Cortical Hemiatrophy | |
| Cerebral Dysfunction | |
| Cerebral Dysgenesis | |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome | |
| Cerebral Embolism | |
| Cerebral Embolism And Thrombosis | |
| Cerebral Hemangioblastoma | |
| Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type | |
| Cerebral Herniation | |
| Cerebral Hygroma | |
| Cerebral Hypoperfusion | |
| Cerebral Hypoxia-Ischemia | |
| Cerebral Infarction | |
| Cerebral Ischemia | |
| Cerebral Metastasis | |
| Cerebral Palsy | A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. |
| Cerebral Palsy, Spastic Quadriplegic, 3 | |
| Cerebral Primitive Neuroectodermal Tumor | |
| Cerebral Salt-Wasting Syndrome | |
| Cerebral Sarcoma | |
| Cerebral Seizure | |
| Cerebral Thrombosis | |
| Cerebral Thrombus | |
| Cerebral Vasospasm | |
| Cerebral Venous Angioma | |
| Cerebral Venous Sinus Thrombosis | |
| Cerebral Volume Loss | |
| Cerebral White Matter Atrophy | The presence of atrophy (wasting) of the cerebral white matter. |
| Cerebritis | |
| Cerebrocostomandibular Syndrome | |
| Cerebrocostomandibular-Like Syndrome | |
| Cerebrofaciothoracic Dysplasia | |
| Cerebrofrontofacial Syndrome | |
| Cerebrooculofacioskeletal Syndrome | |
| Cerebrooculofacioskeletal Syndrome 4 | |
| Cerebroretinal Microangiopathy | |
| Cerebroretinal Vasculopathy | |
| Cerebrospinal Fluid Hypovolemia | |
| Cerebrovascular Amyloidosis | |
| Cerebrovascular Infarction | |
| Cerebrovascular Insufficiency | |
| Cerebrovascular Occlusion | |
| Ceroid Lipofuscinosis | |
| Ceruloplasmin Deficiency | |
| Cervical Adenocarcinoma | A cervix carcinoma that derives_from epithelial cells of glandular origin. |
| Cervical Aortic Arch | The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. |
| Cervical Atypism | |
| Cervical Auricle (Disorder) | |
| Cervical C5/C6 Vertebrae Fusion | |
| Cervical Cancer | A female reproductive organ cancer that is located_in the cervix. |
| Cervical Cancer Metastasis | |
| Cervical Carcinoma Stage Iib | |
| Cervical Clear Cell Adenocarcinoma | |
| Cervical Disc Degenerative Disorder | |
| Cervical Disc Disorder | |
| Cervical Dysplasia | |
| Cervical Dystonia, Primary | |
| Cervical Endometrioid Adenocarcinoma | |
| Cervical Glandular Intraepithelial Neoplasia | |
| Cervical High Grade Squamous Intraepithelial Lesion | |
| Cervical Intraepithelial Neoplasia | |
| Cervical Keratinizing Squamous Cell Carcinoma | |
| Cervical Lymphadenitis | |
| Cervical Lymphadenopathy | |
| Cervical Mass | |
| Cervical Melanoma | |
| Cervical Meningomyelocele | |
| Cervical Mesonephric Adenocarcinoma | |
| Cervical Migraine Syndrome | |
| Cervical Mucinous Adenocarcinoma | |
| Cervical Myelopathy | |
| Cervical Polyp | |
| Cervical Pregnancy | |
| Cervical Rib | |
| Cervical Spinal Cord Atrophy | |
| Cervical Spine Instability | |
| Cervical Spondylosis | |
| Cervical Spondylosis With Myelopathy | |
| Cervical Squamous Cell Carcinoma | A cervix carcinoma that has_material_basis_in squamous cells of the cervix. |
| Cervical Squamous Intraepithelial Neoplasia | |
| Cervical Syndrome | |
| Cervical Vertebral Dysplasia | |
| Cervico-Brachial Neuralgia | |
| Cervicogenic Headache | |
| Cervix Adenomatous Polyp | |
| Cervix Carcinoma | A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Cervix Carcinoma Recurrent | |
| Cervix Intraepithelial Neoplasia Grade 3 Ajcc V7 | |
| Cessation Of Head Growth | Stagnation of head growth seen as flattening of the head circumference curve. |
| Cfhr5 Deficiency | |
| Chagas Cardiomyopathy | a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi |
| Chagas Disease | A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. |
| Chagas' Disease Without Mention Of Organ Involvement | |
| Chalasia Of Lower Esophageal Sphincter | |
| Chancroids | |
| Chandler Syndrome | |
| Channelopathies | |
| Char Syndrome | |
| Charcot-Marie-Tooth Disease | |
| Charge Syndrome | A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. |
| Chediak-Higashi Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Cheilitis | A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. |
| Chemical And Drug Induced Liver Injury | |
| Chemical Cystitis | |
| Chemical Gastritis | |
| Chemical-Induced Asthma | |
| Chemically-Induced Liver Toxicity | |
| Chemo Brain | |
| Cherubism | OMIM mapping confirmed by DO. [SN]. |
| Chest Wall Sarcoma | |
| Chest--Tumors | |
| Chiari Malformation Type Ii | |
| Chiari-Frommel Syndrome | |
| Chicken Hepatoma | |
| Chicken Lymphoma | |
| Chief Cell Adenocarcinoma | |
| Chikungunya Fever | |
| Chilaiditi Syndrome | |
| Chilblain Lupus 1 | |
| Chilblain Lupus 2 | |
| Chilblain Lupus Erythematosus | |
| Chilblains | |
| Child Attention Deficit Disorder | |
| Child Development Deviations | |
| Child Malnutrition | |
| Childhood Absence Epilepsy | A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. |
| Childhood Acute Basophilic Leukemia | |
| Childhood Acute Eosinophilic Leukemia | |
| Childhood Acute Erythroid Leukemia | |
| Childhood Acute Leukemia In Remission | |
| Childhood Acute Lymphoblastic Leukemia | disease cluster belonging to disease group cancer |
| Childhood Acute Megakaryoblastic Leukemia | |
| Childhood Acute Monoblastic Leukemia | |
| Childhood Acute Monocytic Leukemia | |
| Childhood Acute Myeloid Leukemia | |
| Childhood Acute Myeloid Leukemia In Remission | |
| Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies | |
| Childhood Acute Myelomonocytic Leukemia | |
| Childhood Acute Promyelocytic Leukemia With Pml-Rara | |
| Childhood Alveolar Rhabdomyosarcoma | |
| Childhood Alveolar Soft Part Sarcoma | |
| Childhood Anaplastic Ependymoma | |
| Childhood Anaplastic Large Cell Lymphoma | |
| Childhood Anaplastic Oligoastrocytoma | |
| Childhood Anaplastic Oligodendroglioma | |
| Childhood Angiosarcoma | |
| Childhood Asthma | disease cluster belonging to disease group immune |
| Childhood Astrocytoma | |
| Childhood Ataxia With Central Nervous System Hypomyelinization | |
| Childhood Atopic Dermatitis | |
| Childhood Atypical Teratoid/Rhabdoid Tumor | |
| Childhood B Acute Lymphoblastic Leukemia | |
| Childhood B Acute Lymphoblastic Leukemia With T(9;22)(Q34.1;Q11.2); Bcr-Abl1 | |
| Childhood B Lymphoblastic Lymphoma | |
| Childhood Benign Occipital Epilepsy | |
| Childhood Botryoid-Type Embryonal Rhabdomyosarcoma | |
| Childhood Brain Glioblastoma | |
| Childhood Brain Meningioma | |
| Childhood Brain Neoplasm | |
| Childhood Brain Stem Glioma | |
| Childhood Brain Stem Neoplasm | |
| Childhood Bronchiectasis | |
| Childhood Burkitt Leukemia | |
| Childhood Burkitt Lymphoma | |
| Childhood Celiac Disease | |
| Childhood Central Nervous System Neoplasm | |
| Childhood Cerebellar Neoplasm | |
| Childhood Cerebral Astrocytoma | |
| Childhood Choroid Plexus Carcinoma | |
| Childhood Chronic Myelogenous Leukemia, Bcr-Abl1 Positive | |
| Childhood Clear Cell Sarcoma Of Soft Parts | |
| Childhood Colorectal Carcinoma | |
| Childhood Craniopharyngioma | |
| Childhood Depression | |
| Childhood Desmoplastic Small Round Cell Tumor | |
| Childhood Diabetes Mellitus | |
| Childhood Diffuse Astrocytoma | |
| Childhood Diffuse Large Cell Lymphoma | |
| Childhood Disintegrative Disorder | |
| Childhood Embryonal Rhabdomyosarcoma | |
| Childhood Ependymoma | |
| Childhood Epithelioid Hemangioendothelioma | |
| Childhood Epithelioid Sarcoma | |
| Childhood Fibrillary Astrocytoma | |
| Childhood Ganglioglioma | |
| Childhood Ganglioneuroblastoma | |
| Childhood Gastrointestinal Stromal Tumor | |
| Childhood Gemistocytic Astrocytoma | |
| Childhood Germ Cell Tumor | |
| Childhood Giant Cell Glioblastoma | |
| Childhood Glioblastoma | |
| Childhood Gliomatosis Cerebri | |
| Childhood Gliosarcoma | |
| Childhood Grade I Meningioma | |
| Childhood Grade Ii Meningioma | |
| Childhood Grade Iii Meningioma | |
| Childhood Hematopoietic Neoplasm | |
| Childhood Hepatocellular Carcinoma | |
| Childhood Hodgkin Lymphoma | |
| Childhood Hypophosphatasia (Disorder) | |
| Childhood Immunoblastic Lymphoma | |
| Childhood Infratentorial Ependymoma | |
| Childhood Kidney Neoplasm | |
| Childhood Kidney Wilms Tumor | |
| Childhood L2 Acute Lymphoblastic Leukemia | |
| Childhood Langerhans Cell Histiocytosis | |
| Childhood Large Cell Lymphoma | |
| Childhood Leiomyosarcoma | |
| Childhood Leukemia | A leukemia that occurs in children. |
| Childhood Liposarcoma | |
| Childhood Lymphoblastic Lymphoma | |
| Childhood Lymphocyte-Rich Classic Hodgkin Lymphoma | |
| Childhood Lymphoma | |
| Childhood Malignant Fibrous Histiocytoma Of Bone | |
| Childhood Malignant Liver Neoplasm | |
| Childhood Malignant Peripheral Nerve Sheath Tumor | |
| Childhood Malignant Solid Neoplasm | |
| Childhood Medulloblastoma | |
| Childhood Melanoma | |
| Childhood Mesenchymal Chondrosarcoma | |
| Childhood Mixed Glioma | |
| Childhood Myelodysplastic Syndrome | |
| Childhood Nasal Type Extranodal Nk/T-Cell Lymphoma | |
| Childhood Nephrotic Syndrome | |
| Childhood Neuroblastoma | |
| Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma | |
| Childhood Nodular Sclerosis Classic Hodgkin Lymphoma | |
| Childhood Non-Hodgkin Lymphoma | |
| Childhood Oligoastrocytoma | |
| Childhood Oligodendroglioma | |
| Childhood Onset Dystonias | |
| Childhood Osteosarcoma | |
| Childhood Ovarian Germ Cell Tumor | |
| Childhood Pilocytic Astrocytoma | |
| Childhood Pilomyxoid Astrocytoma | |
| Childhood Pineoblastoma | |
| Childhood Pleomorphic Rhabdomyosarcoma | |
| Childhood Pleomorphic Xanthoastrocytoma | |
| Childhood Pre-B Acute Lymphoblastic Leukemia | |
| Childhood Progressive Bulbar Palsy | |
| Childhood Renal Cell Carcinoma | |
| Childhood Rhabdomyosarcoma | |
| Childhood Small Intestinal Carcinoma | |
| Childhood Soft Tissue Sarcoma | |
| Childhood Subependymal Giant Cell Astrocytoma | |
| Childhood Supratentorial Ependymoma | |
| Childhood Supratentorial Neoplasm | |
| Childhood Synovial Sarcoma | |
| Childhood T Acute Lymphoblastic Leukemia | |
| Childhood T Lymphoblastic Lymphoma | |
| Childhood Teratoma | |
| Childhood Testicular Germ Cell Tumor | |
| Childhood Thyroid Gland Carcinoma | |
| Childhood Thyroid Gland Papillary Carcinoma | |
| Childhood Tic Disorders | |
| Childhood Undifferentiated Pleomorphic Sarcoma | |
| Childhood-Onset Short-Trunk Short Stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. |
| Childhood-Onset Spasticity With Hyperglycinemia | |
| Chitayat Syndrome | |
| Chitotriosidase Deficiency | |
| Chlamydia Pneumoniae Infections | |
| Chlamydia Psittaci Infection | |
| Chlamydia Trachomatis Infection | |
| Chlamydia Trachomatis Infection Of Genital Structure | |
| Chlamydial Urethritis | |
| Chloasma | |
| Chloracne | |
| Chlorpropamide-Alcohol Flushing | |
| Choanal Atresia | OMIM mapping confirmed by DO. [SN]. |
| Chocolate Cyst Of Ovary | |
| Cholangiocarcinoma | |
| Cholangiocarcinoma Non-Resectable | |
| Cholangiolocellular Carcinoma | |
| Cholangiopathy | |
| Cholangitis | A bile duct disease that is an inflammation of the bile duct. |
| Cholangitis, Sclerosing | |
| Cholecystitis | A cholangitis that is an inflammation of the gallbladder. |
| Cholecystolithiasis | |
| Choledochal Cyst | |
| Choledocholithiasis | |
| Cholelithiasis | Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). |
| Cholemia | |
| Cholera | A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. |
| Cholera Infantum | |
| Cholestasis | |
| Cholestatic Hepatitis | |
| Cholesteatoma | |
| Cholesteatoma, Congenital | |
| Cholesterol Embolism | A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. |
| Cholesterol Ester Storage Disease | |
| Cholesterol Gallstones | Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. |
| Cholesteryl Ester Transfer Protein Deficiency | |
| Choline Deficiency | |
| Cholinergic Crisis | |
| Cholinergic Urticaria | An urticaria induced by sweating. |
| Chondritis | |
| Chondroblastic Osteosarcoma | |
| Chondroblastoma | A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)|A benign, lytic neoplasm usually arising from the cartilage in epiphysis and metaphysis of bone. It is a well circumscribed tumor characterized by the presence of chondroblasts, osteoclast-like giant cells, myxoid stroma formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. The tumor occurs most frequently in children and young adults. |
| Chondrocalcinosis 2, Sporadic | |
| Chondrodysplasia | |
| Chondrogenic Neoplasm | |
| Chondroid Hamartoma | |
| Chondroid Lipoma | A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. |
| Chondrolysis Of Articular Cartilage | |
| Chondroma | A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. |
| Chondromalacia | |
| Chondromatosis | |
| Chondromyxoid Fibroma | |
| Chondrosarcoma | A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)|A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. |
| Chondrosis | |
| Chops Syndrome | |
| Chordee | Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. |
| Chordoid Glioma Of The Third Ventricle | |
| Chordoid Meningioma | |
| Chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| Chordoma Of Clivus | |
| Chorea Acanthocytosis Syndrome | |
| Chorea, Benign Familial | |
| Chorea, Childhood-Onset, With Psychomotor Retardation | |
| Chorea, Senile | |
| Choreoathetosis | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| Choreoathetosis/Spasticity, Episodic | |
| Chorioallantoic Placenta | |
| Chorioangioma | |
| Choriocarcinoma | An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. |
| Chorioretinal Atrophy | Atrophy of the choroid and retinal layers of the fundus. |
| Chorioretinal Atrophy, Progressive Bifocal | |
| Chorioretinal Degeneration | |
| Chorioretinal Dysplasia | Abnormal development of the choroid and retina. |
| Chorioretinal Dystrophy | |
| Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism | |
| Chorioretinitis | |
| Choroid Plexus Carcinoma | A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. |
| Choroid Plexus Papilloma | OMIM mapping confirmed by DO. [SN]. |
| Choroidal And/Or Chorioretinal Disorder | |
| Choroidal Detachment | |
| Choroidal Dystrophy | |
| Choroidal Dystrophy, Central Areolar 1 | |
| Choroidal Dystrophy, Central Areolar 2 | |
| Choroidal Effusion | |
| Choroidal Neovascular Membrane (Disorder) | |
| Choroidal Sclerosis | OMIM mapping confirmed by DO. [SN]. |
| Choroideremia | OMIM mapping confirmed by DO. [SN]. |
| Choroiditis | |
| Christ-Siemens-Touraine Syndrome | |
| Chromate Resistance (Disorder) | |
| Chromoblastomycosis | A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. |
| Chromophobe Carcinoma | |
| Chromophobe Renal Cell Carcinoma | |
| Chromophobe Tumor | |
| Chromosome 1, Monosomy 1P | |
| Chromosome 10, Monosomy 10P | |
| Chromosome 10, Monosomy 10Q | |
| Chromosome 10P12-P11 Deletion Syndrome | |
| Chromosome 11P Deletion Syndrome | |
| Chromosome 11P11.2 Deletion Syndrome | |
| Chromosome 11Q Duplication Syndrome | |
| Chromosome 12 Ring | |
| Chromosome 12, 12P Trisomy | |
| Chromosome 12, Trisomy 12Q | |
| Chromosome 13Q14 Deletion Syndrome | |
| Chromosome 15Q, Tetrasomy | |
| Chromosome 15Q, Trisomy | |
| Chromosome 15Q13.3 Microdeletion Syndrome | |
| Chromosome 15Q14 Deletion Syndrome | |
| Chromosome 15Q26-Qter Deletion Syndrome | |
| Chromosome 16P11.2 Deletion Syndrome, 220-Kb | |
| Chromosome 16P11.2 Deletion Syndrome, 593-Kb | |
| Chromosome 16P13.2 Deletion Syndrome | |
| Chromosome 16P13.3 Deletion Syndrome | |
| Chromosome 17 Deletion | |
| Chromosome 17 Trisomy | |
| Chromosome 17, Trisomy 17P | |
| Chromosome 17P13.3 Duplication Syndrome | |
| Chromosome 17Q12 Deletion Syndrome | |
| Chromosome 17Q21.31 Deletion Syndrome | |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome | |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome | |
| Chromosome 18, Trisomy 18Q | |
| Chromosome 18P Deletion Syndrome | |
| Chromosome 18Q Syndrome | |
| Chromosome 19Q13.11 Deletion Syndrome, Distal | |
| Chromosome 1P32-P31 Deletion Syndrome | |
| Chromosome 1P36 Deletion Syndrome | |
| Chromosome 2, Trisomy 2P | |
| Chromosome 2, Trisomy 2Q | |
| Chromosome 21 Monosomy | |
| Chromosome 22Q11.2 Deletion Syndrome, Distal | |
| Chromosome 22Q11.2 Microduplication Syndrome | |
| Chromosome 2P16.3 Deletion Syndrome | |
| Chromosome 2Q32-Q33 Deletion Syndrome | |
| Chromosome 2Q37 Deletion Syndrome | |
| Chromosome 3, Monosomy 3P | |
| Chromosome 3, Monosomy 3P25 | |
| Chromosome 3, Trisomy 3Q | |
| Chromosome 3Q29 Deletion Syndrome | |
| Chromosome 4Q- Syndrome | |
| Chromosome 5, Monosomy 5Q35 | |
| Chromosome 5, Trisomy 5Q | |
| Chromosome 5P13 Duplication Syndrome | |
| Chromosome 6, Monosomy 6Q | |
| Chromosome 6Pter-P24 Deletion Syndrome | |
| Chromosome 6Q24-Q25 Deletion Syndrome | |
| Chromosome 7 Ring Syndrome | |
| Chromosome 7, Trisomy 7P | |
| Chromosome 7, Trisomy 7Q | |
| Chromosome 7, Trisomy Mosaic | |
| Chromosome 8, Monosomy 8P | |
| Chromosome 8, Monosomy 8P23 1 | |
| Chromosome 8, Trisomy 8P | |
| Chromosome 8, Trisomy 8Q | |
| Chromosome 8P11 Myeloproliferative Syndrome | |
| Chromosome 9, Partial Trisomy 9P | |
| Chromosome 9, Tetrasomy 9P | |
| Chromosome 9, Trisomy | |
| Chromosome 9P Deletion Syndrome | |
| Chromosome Instability Syndromes | |
| Chromosome Xp11.23-P11.22 Duplication Syndrome | |
| Chromosome Xq26.3 Duplication Syndrome | |
| Chromosome Xq27.3-Q28 Duplication Syndrome | |
| Chronic Acquired Lymphedema | |
| Chronic Active Ebv Infection Of T-And Nk-Cell Type, Systemic Form | |
| Chronic Active Hepatitis | |
| Chronic Active Hepatitis C | |
| Chronic Active Viral Hepatitis | |
| Chronic Adenoiditis | |
| Chronic Adenotonsillitis | |
| Chronic Adult T-Cell Leukemia/Lymphoma | |
| Chronic Airflow Obstruction | |
| Chronic Alcoholic Hepatitis | |
| Chronic Alcoholic Liver Disease | |
| Chronic Allergic Conjunctivitis | |
| Chronic Anemia | |
| Chronic Anterior Uveitis | |
| Chronic Anxiety | |
| Chronic Apical Abscess | |
| Chronic Arthritis | |
| Chronic Arthropathy | |
| Chronic Atrial And Intestinal Dysrhythmia | |
| Chronic Atrial Fibrillation | |
| Chronic Autoimmune Urticaria | |
| Chronic Axonal Neuropathy | An abnormality characterized by chronic impairment of the normal functioning of the axons. |
| Chronic Bacterial Prostatitis | |
| Chronic Berylliosis | |
| Chronic Calcifying Pancreatitis | A form of chronic pancreatitis that is characterized by calcification. |
| Chronic Candidiasis | |
| Chronic Central Serous Chorioretinopathy | |
| Chronic Cerebral Ischemia | |
| Chronic Cerebrospinal Venous Insufficiency | |
| Chronic Cerebrovascular Accident | |
| Chronic Cervicitis | |
| Chronic Chagas' Disease | |
| Chronic Cholangitis | |
| Chronic Cholecystitis | |
| Chronic Colitis | A chronic inflammatory disease of the large intestine (colon, cecum and rectum). |
| Chronic Congestive Heart Failure | |
| Chronic Conjunctivitis | |
| Chronic Cryptosporidiosis | |
| Chronic Cystitis | |
| Chronic Daily Headache | |
| Chronic Depression | |
| Chronic Dermatitis | |
| Chronic Desquamative Gingivitis | |
| Chronic Diarrhea | The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. |
| Chronic Disseminated Candidiasis | |
| Chronic Drug Abuse | |
| Chronic Duodenitis | |
| Chronic Eczema | |
| Chronic Emphysema | |
| Chronic Endometritis | |
| Chronic Enterocolitis | |
| Chronic Eosinophilic Leukemia | |
| Chronic Epididymitis | |
| Chronic Esophagitis | |
| Chronic Fatigue Syndrome | A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. |
| Chronic Furunculosis | A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. |
| Chronic Gastritis | |
| Chronic Gastroduodenitis | |
| Chronic Gingivitis | |
| Chronic Gingivostomatitis | |
| Chronic Glomerular Disease | |
| Chronic Glomerulonephritis | disease cluster belonging to disease group renal |
| Chronic Gouty Arthritis | |
| Chronic Graft-Versus-Host Disease | |
| Chronic Granulomatous Disease, Type Ii | |
| Chronic Hand Eczema | |
| Chronic Headache | |
| Chronic Heart Failure | disease cluster belonging to disease group cardiovascular |
| Chronic Hemolysis | |
| Chronic Hemolytic Anemia | An chronic form of hemolytic anemia. |
| Chronic Hepatic Encephalopathy | |
| Chronic Hepatitis C | |
| Chronic Hepatitis Due To Cryptosporidium Infection | |
| Chronic Hepatitis E | |
| Chronic Hyperplastic Candidiasis | |
| Chronic Hyperplastic Eosinophilic Sinusitis | |
| Chronic Hypokalemia | |
| Chronic Idiopathic Neutropenia | disease cluster belonging to disease group hematological |
| Chronic Idiopathic Pulmonary Fibrosis | |
| Chronic Idiopathic Thrombocytopenic Purpura | |
| Chronic Idiopathic Urticaria | |
| Chronic Infantile Neurological, Cutaneous, And Articular Syndrome | |
| Chronic Infection With Hiv | |
| Chronic Insomnia | |
| Chronic Interstitial Cystitis | |
| Chronic Interstitial Lung Disease | |
| Chronic Interstitial Nephritis | |
| Chronic Intestinal Failure | |
| Chronic Intestinal Pseudo-Obstruction | |
| Chronic Iridocyclitis | |
| Chronic Iron Deficiency Anaemia | |
| Chronic Iron Overload | |
| Chronic Irritative Conjunctivitis | |
| Chronic Kidney Disease | Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)|The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. |
| Chronic Kidney Insufficiency | |
| Chronic Left-Sided Ulcerative Colitis | |
| Chronic Leukemia (Category) | |
| Chronic Liver Failure | |
| Chronic Low Back Pain | |
| Chronic Lung Disease | According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. |
| Chronic Lung Injury | |
| Chronic Lyme Disease | |
| Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive To Steroids | |
| Chronic Lymphocytic Leukaemia Refractory | |
| Chronic Lymphocytic Leukaemia Stage 3 | |
| Chronic Lymphocytic Leukaemia Transformation | |
| Chronic Lymphocytic Leukemia | A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. |
| Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma | |
| Chronic Lymphocytic Meningitis | |
| Chronic Lymphoproliferative Disease Nos | |
| Chronic Lymphoproliferative Disorder Of Nk-Cells | |
| Chronic Malaria | |
| Chronic Mastitis | |
| Chronic Maxillary Sinusitis | A maxillary sinusitis which lasts for 12 weeks or more. |
| Chronic Mesangial Proliferative Glomerulonephritis | |
| Chronic Mesenteric Ischemia | |
| Chronic Metabolic Acidosis | Longstanding metabolic acidosis. |
| Chronic Mountain Sickness | |
| Chronic Mucus Hypersecretion | |
| Chronic Multifocal Osteomyelitis | |
| Chronic Myelocytic Leukemeia | |
| Chronic Myelogenous Leukemia, Bcr/Abl Positive | |
| Chronic Myeloid Leukaemiea | |
| Chronic Myelomonocytic Leukemia | A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. |
| Chronic Myelopathy | |
| Chronic Myeloproliferative Disorder | |
| Chronic Myocardial Ischemia | |
| Chronic Myocarditis | |
| Chronic Nasal Congestion | |
| Chronic Nasopharyngitis | |
| Chronic Necrotizing Pulmonary Aspergillosis | |
| Chronic Neutropenia | |
| Chronic Neutrophilia | |
| Chronic Neutrophilic Leukemia | |
| Chronic Non-Spherocytic Hemolytic Anemia | |
| Chronic Nonspecific Lung Disease | |
| Chronic Obstructive Airway Disease | |
| Chronic Obstructive Asthma (With Obstructive Pulmonary Disease) | |
| Chronic Obstructive Pulmonary Disease Exacerbation | |
| Chronic Open Angle Glaucoma | |
| Chronic Oral Candidiasis | |
| Chronic Osteoarthritis | |
| Chronic Osteomyelitis | |
| Chronic Otitis | |
| Chronic Otitis Media | Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. |
| Chronic Pain Syndrome | |
| Chronic Peptic Ulcer | |
| Chronic Periaortitis | |
| Chronic Periodontitis | |
| Chronic Peritoneal Effusion (Disorder) | |
| Chronic Persistent Hepatitis | |
| Chronic Plaque-Like Oral Candidiasis | |
| Chronic Pneumonia | |
| Chronic Pneumonitis Of Infancy | |
| Chronic Polyarthritis | |
| Chronic Post-Thoracotomy Pain Syndrome | |
| Chronic Post-Traumatic Headache | |
| Chronic Post-Traumatic Stress Disorder | |
| Chronic Postoperative Pain | |
| Chronic Primary Angle Closure Glaucoma | |
| Chronic Progressive Chorea | |
| Chronic Progressive External Ophthalmoplegia | |
| Chronic Proliferative Glomerulonephritis | |
| Chronic Prostatitis | |
| Chronic Prostatitis With Chronic Pelvic Pain Syndrome | |
| Chronic Prurigo | |
| Chronic Psychosis | |
| Chronic Pulmonary Aspergillosis | |
| Chronic Pulmonary Heart Disease | |
| Chronic Pulmonary Insufficiency Of Prematurity | |
| Chronic Purulent Otitis Media | A suppurative otitis media which is persistent and long-lasting. |
| Chronic Pyelonephritis | |
| Chronic Q Fever | |
| Chronic Rejection Of Renal Transplant | |
| Chronic Respiratory Disease Due To Mycoplasma Gallisepticum | |
| Chronic Respiratory Failure | |
| Chronic Respiratory Insufficiency | |
| Chronic Rheumatic Heart Disease | |
| Chronic Rhinitis | A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. |
| Chronic Rhinitis Due To Narrow Nasal Airway | |
| Chronic Rhinosinusitis With Nasal Polyps | |
| Chronic Schizophrenia | |
| Chronic Sciatica | |
| Chronic Sclerosing Sialadenitis | |
| Chronic Secretory Otitis Media | |
| Chronic Sensorineural Polyneuropathy | |
| Chronic Sialadenitis | |
| Chronic Sialoadenitis | |
| Chronic Sinus Disease | |
| Chronic Sinusitis | A chronic form of sinusitis. |
| Chronic Skin Ulcer | |
| Chronic Small Plaque Psoriasis | |
| Chronic Stable Plaque Psoriasis | |
| Chronic Superficial Gastritis | |
| Chronic Synovitis | |
| Chronic Systolic Heart Failure | |
| Chronic Tension-Type Headache | disease cluster belonging to disease group other |
| Chronic Thrombocytopenia | |
| Chronic Thromboembolic Pulmonary Hypertension | |
| Chronic Thyroiditis | |
| Chronic Tonsillitis | |
| Chronic Tophaceous Gout | |
| Chronic Total Occlusion Of Coronary Artery | |
| Chronic Total Occlusion Vessel | |
| Chronic Traumatic Encephalopathy | |
| Chronic Ulcer | |
| Chronic Ulcer Of Lower Extremity | |
| Chronic Ulcerative Colitis | |
| Chronic Ulcerative Proctitis | |
| Chronic Ulcerative Stomatitis | |
| Chronic Uremia | |
| Chronic Urinary Tract Infection | |
| Chronic Urticaria | |
| Chronic Venous Insufficiency | |
| Chronic Viral Hepatitis | |
| Chronic Visceral Pain | |
| Chronic Wasting Disease (Cwd) | |
| Chudley-Mccullough Syndrome | |
| Chuvash Erythrocytosis | |
| Chylomicron Retention Disease | Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. |
| Chylomicronemia Syndrome | |
| Chylopericardium | |
| Chylothorax | Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. |
| Chylothorax, Congenital | |
| Chylous Ascites | Extravasation of chyle into the peritoneal cavity. |
| Chylous Effusion | |
| Cic-Dux Sarcoma | |
| Cicatricial Ectropion | |
| Cicatrix, Hypertrophic | |
| Ciliary Body Coloboma | |
| Ciliary Dyskinesia | A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. |
| Ciliopathies | |
| Cilioretinal Artery (Disorder) | |
| Cilioretinal Artery Occlusion | |
| Circadian Dysrhythmia | |
| Circadian Rhythm Disorders | |
| Circovirus Infections | |
| Circulatory Depression | |
| Circumlocution | |
| Cirrhosis | |
| Cirrhosis, Noncryptogenic, Susceptibility To (Finding) | |
| Citrin Deficiency | Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term). |
| Citrullinemia | An urea cycle disorder that involves the accumulation of ammonia in the blood. |
| Citrullinemia, Mild | |
| Citrullinemia, Type Ii, Neonatal-Onset | |
| Ck Syndrome | |
| Clapo Syndrome | |
| Class 2 Uveal Melanoma | |
| Class I Malocclusion | |
| Class Iii Malocclusion | |
| Classic Congenital Adrenal Hyperplasia | |
| Classic Maple Syrup Urine Disease | |
| Classic Medulloblastoma | |
| Classic Pelizaeus-Merzbacher Disease | |
| Classical Burkitt Lymphoma | |
| Classical Cystic Fibrosis | |
| Classical Galactosemia | |
| Classical Galactosemia, Homozygous Duarte-Type | |
| Classical Glioblastoma | |
| Classical Hodgkin'S Lymphoma | |
| Classical Lissencephalies And Subcortical Band Heterotopias | disease cluster belonging to disease group unknown |
| Classical Lissencephaly | |
| Classical Phenylketonuria | |
| Clastothrix | |
| Claw Hand | |
| Clear Cell Adenocarcinoma Of Ovary | |
| Clear Cell Hepatocellular Carcinoma | |
| Clear Cell Hidradenoma | |
| Clear Cell Meningioma | |
| Clear Cell Odontogenic Carcinoma | |
| Clear Cell Papillary Renal Cell Carcinoma | |
| Clear Cell Sarcoma Of Kidney | |
| Clear Cell Sarcoma Of Soft Tissue | |
| Clear Cell Sarcoma, Of Tendons And Aponeuroses | |
| Clear Cell Tumor | |
| Clear-Cell Metastatic Renal Cell Carcinoma | |
| Clear-Cell Sugar Tumors | |
| Cleft Earlobe | |
| Cleft Face | |
| Cleft Leaflet Of Mitral Valve | |
| Cleft Lip | |
| Cleft Lip With Or Without Cleft Palate | disease cluster belonging to disease group developmental |
| Cleft Lip, Congenital Healed | |
| Cleft Palate | An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. |
| Cleft Palate Alone | |
| Cleft Palate With Ankyloglossia | |
| Cleft Palate-Lateral Synechia Syndrome | |
| Cleft Soft Palate | Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. |
| Cleft Uvula | |
| Cleidocranial Dysplasia | An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. |
| Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly | |
| Clinical Anxiety | |
| Clinical Capillary Leak Syndrome | |
| Clinical Chorioamnionitis | |
| Clinical Depression | |
| Clinical Malaria | |
| Clinically Isolated Syndrome | |
| Clinically Significant Macular Edema | |
| Clinodactyly | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| Cll Progression | |
| Clonic Seizures | increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle |
| Clonorchiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. |
| Clostridium Difficile Colitis | |
| Clostridium Difficile Diarrhea | |
| Clostridium Difficile Infection | |
| Clostridium; Difficile (Disorder) | |
| Clouding Of Corneal Stroma | |
| Clubbed Fingers | |
| Clubbing Of Toes | Terminal broadening of the toes (distal phalanges of the toes). |
| Clucocortiscoid Deficiency | |
| Clumsiness - Motor Delay | |
| Cluster A Personality Disorder | |
| Cluster B Personality Disorder | |
| Cluster C Personality Disorder | |
| Cluster Headache | A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. |
| Cluster Headaches And Other Trigeminal Autonomic Cephalgias | |
| Cml Progression | |
| Cns Degeneration | |
| Coach Syndrome | |
| Coarctation | |
| Coat Hanger Sign Of Ribs | An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). |
| Cobblestone Complex | |
| Cobblestone Lissencephaly | |
| Cocaine Abuse | A substance abuse that involves the recurring use of cocaine despite negative consequences. |
| Cocaine Delirium | |
| Cocaine Dependence | A drug dependence that is a psychological dependency on the regular use of cocaine. |
| Cocaine Intoxication | |
| Cocaine Use | |
| Cocaine Withdrawal | |
| Cocaine-Induced Mood Disorder | |
| Coccidioidomycosis | A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. |
| Coccidiosis | A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. |
| Cochlear Otosclerosis | |
| Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts | |
| Cockayne Syndrome | An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. |
| Cockayne-Pelizaeus-Merzbacher Disease | |
| Cockayne-Touraine Disease | |
| Cocoon Syndrome | |
| Codas Syndrome | |
| Codependency | |
| Coenuriasis | |
| Coenzyme A Synthase Protein Associated Neurodegeneration | |
| Coenzyme Q10 Deficiency | |
| Coffin-Lowry Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Coffin-Siris Syndrome | A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. |
| Cog5 Congenital Disorder Of Glycosylation | |
| Cognitive Deterioration | |
| Cognitive Impairment With Or Without Cerebellar Ataxia | |
| Cohen Syndrome | Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. |
| Cohen-Gibson Syndrome | |
| Colagenosis | |
| Cold Hemagglutinin Disease | |
| Cold Hypersensitivity | |
| Cold Paroxysmal Hemoglobinuria | |
| Cold Symptoms | |
| Cold-Induced Sweating Syndrome | An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. |
| Cole Carpenter Syndrome | |
| Cole Disease | |
| Cole-Carpenter Syndrome | |
| Colitis | Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. |
| Collagen Nevus Of Skin | |
| Collagen-Vascular Disease | |
| Collagenopathy, Type 2 Alpha 1 | |
| Collagenosis, Familial Reactive Perforating | |
| Collagenous Sprue | |
| Collapsed Lung | |
| Collapsing Glomerulopathy | |
| Collecting Duct Carcinoma Of The Kidney | |
| Collodion Fetus | |
| Colloid Carcinoma Of The Pancreas | |
| Colloid Cysts | |
| Colloid Goiter | |
| Coloboma | An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. |
| Coloboma Of Choroid And Retina | |
| Coloboma Of Iris | |
| Coloboma Of Lens | |
| Coloboma Of Optic Disc | |
| Coloboma Of The Retina | |
| Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome | |
| Colon (Non-Specific) Lesion | |
| Colon Adenocarcinoma | A colon carcinoma that derives_from epithelial cells of glandular origin. |
| Colon Adenoma | |
| Colon Cancer | A colorectal cancer that is located_in the colon. |
| Colon Cancer Liver Metastasis | |
| Colon Carcinoma | A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Colon Carcinoma Metastatic In The Liver | |
| Colon Mucosa-Associated Lymphoid Tissue Lymphoma | |
| Colon Neuroendocrine Tumor G1 | |
| Colon Serrated Polyposis | |
| Colonic Diseases, Functional | |
| Colonic Diverticulitis | |
| Colonic Dysfunction | |
| Color Blindness | A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. |
| Colorectal Adenocarcinoma | A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004|An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.|Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI. |
| Colorectal Adenoma | |
| Colorectal Adenomatous Polyp | |
| Colorectal Adenomatous Polyposis, Autosomal Recessive | |
| Colorectal Cancer | A large intestine cancer that is located in the colon and/or located in the rectum. |
| Colorectal Cancer Recurrent | |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 1 | |
| Colorectal Carcinoma | disease cluster belonging to disease group cancer |
| Colorectal Intraepithelial Neoplasia | |
| Colorectal Large Cell Neuroendocrine Carcinoma | |
| Colorectal Lymphoma | |
| Colorectal Mucinous Adenocarcinoma | |
| Colorectal Mucosa-Associated Lymphoid Tissue Lymphoma | |
| Colorectal Neuroendocrine Carcinoma | |
| Colorectal Serrated Adenocarcinoma | |
| Colorectal Signet Ring Cell Carcinoma | |
| Colorectal Small Cell Neuroendocrine Carcinoma | |
| Colpocephaly | Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. |
| Columnar Cell Hyperplasia Of The Breast | |
| Coma, Post-Traumatic, Prolonged | |
| Combat Disorders | |
| Combat Fatigue | |
| Combined Cellular And Humoral Immune Defects With Granulomas | |
| Combined D-2- And L-2-Hydroxyglutaric Aciduria | |
| Combined Hepatocellular Carcinoma And Cholangiocarcinoma | |
| Combined Immunodeficiency | |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia | |
| Combined Immunodeficiency Disease | |
| Combined Large Cell Neuroendocrine Carcinoma | |
| Combined Malonic And Methylmalonic Aciduria | |
| Combined Molybdoflavoprotein Enzyme Deficiency | |
| Combined Oxidative Phosphorylation Deficiency | |
| Combined Pulmonary Fibrosis And Emphysema | |
| Combined Saposin Deficiency | |
| Combined Small Cell Carcinoma | |
| Combined Type Small Cell Lung Cancer | |
| Comedocarcinoma, Noninfiltrating | |
| Comedonal Acne | |
| Comedone | |
| Comitant Heterophoria | |
| Common Acute Lymphoblastic Leukemia | |
| Common Atrioventricular Canal | |
| Common Atrium | Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. |
| Common Carotid Artery Stenosis | |
| Common Carotid Artery Thrombosis | |
| Common Cold | An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. |
| Common Migraine | |
| Common Variable Immunodeficiency | A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). |
| Common Ventricle | |
| Common Wart | A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. |
| Communicating Hydrocephalus | |
| Communication Disorders, Developmental | |
| Community Acquired Pneumonia | |
| Compassion Fatigue | |
| Compensated Acidosis | |
| Compensated Cirrhosis | |
| Compensated Euthyroidism | |
| Compensated Hemolytic Anemia | |
| Compensated Hypothyroidism | |
| Compensated Liver Disease | |
| Compensatory Hyperinsulinemia | |
| Complement Component 2 Deficiency | NT MGI. |
| Complement Component 3 Deficiency, Autosomal Recessive | |
| Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor | |
| Complement Component 8 Deficiency, Type I | |
| Complement Component 8 Deficiency, Type Ii | |
| Complement Deficiency | A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. |
| Complement Factor B Deficiency | |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy | |
| Complete Atrioventricular Block | |
| Complete Congenital Stationary Night Blindness | |
| Complete Duplication Of Distal Phalanx Of The Thumb | Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. |
| Complete Duplication Of Proximal Phalanx Of The Thumb | Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| Complete Duplication Of The Distal Phalanges Of The Hand | A complete duplication affecting one or more of the distal phalanges of the hand. |
| Complete Heart Block With Broad Qrs Complexes | |
| Complete Hydatidiform Mole | |
| Complete Paraplegia | |
| Complete Trisomy 18 Syndrome | |
| Complete Trisomy 21 Syndrome | |
| Complex Atypical Endometrial Hyperplasia | |
| Complex Congenital Heart Disease | |
| Complex Craniosynostosis | |
| Complex Endometrial Hyperplasia | |
| Complex Glycerol Kinase Deficiency | |
| Complex Partial Seizure With Impairment Of Consciousness | |
| Complex Partial Seizures | |
| Complex Partial Status Epilepticus | |
| Complex Regional Pain Syndrome I, Unspecified | |
| Complex Regional Pain Syndromes | |
| Complicated Appendicitis | |
| Complicated Atherosclerosis | |
| Complicated Hereditary Spastic Paraplegia | |
| Complicated Intra-Abdominal Infection | |
| Complicated Malaria | |
| Complicated Pneumoconiosis | |
| Complicated Pyelonephritis | |
| Complicated Skin And Skin Structure Infection | |
| Complicated Urinary Tract Infection | |
| Composite Lymphoma | A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. |
| Compound Leukemias | |
| Compound Nevus Of Skin | |
| Compression Of Spinal Cord | |
| Compression Of Umbilical Cord | |
| Compulsive Hoarding | |
| Compulsive Personality Disorder | |
| Compulsive Sexual Behaviour | |
| Concentric Hypertrophic Cardiomyopathy | Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. |
| Concha Bullosa | |
| Condition, Preneoplastic | |
| Conduct Disorder | A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. |
| Conduct Disorder, Childhood-Onset Type | |
| Conduction System Abnormalities | |
| Conductive Hearing Loss | |
| Condyloma | |
| Cone Dystrophy | A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. |
| Cone Dystrophy With Supernormal Rod Response | |
| Cone Monochromatism | |
| Cone-Rod Dystrophy | A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. |
| Cone-Rod Synaptic Disorder, Congenital Nonprogressive | |
| Cone-Shaped Epiphysis | Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. |
| Confluent And Reticulate Papillomatosis | |
| Confluent Drusen | |
| Congenintal Disorder Of Glycosylation | |
| Congenintal Dyserythropoeitic Anemia | |
| Congenintal Hereditary Endothelial Dystrophy | |
| Congenintal Pontocerebellar Hypoplasia | |
| Congenital Abnormal Hair Pattern | A congenital abnormality of the distribution of hair growth. |
| Congenital Abnormal Shape Of Inner Ear | |
| Congenital Abnormal Synostosis | |
| Congenital Abnormality Of Eustachian Tube | |
| Congenital Absence Of Adrenal Gland | |
| Congenital Absence Of Bladder | |
| Congenital Absence Of Both Testes | |
| Congenital Absence Of Breast | |
| Congenital Absence Of Breast With Absent Nipple | |
| Congenital Absence Of Diaphragm | |
| Congenital Absence Of External Ear | |
| Congenital Absence Of Germinal Epithelium Of Testes | |
| Congenital Absence Of Hand | |
| Congenital Absence Of Jaw | |
| Congenital Absence Of Kidney | |
| Congenital Absence Of Kidneys Syndrome | |
| Congenital Absence Of Liver | |
| Congenital Absence Of Lung | |
| Congenital Absence Of Mandible | |
| Congenital Absence Of Ovary | |
| Congenital Absence Of Pancreas | |
| Congenital Absence Of Parathyroid Gland | |
| Congenital Absence Of Part Of Brain | |
| Congenital Absence Of Penis | |
| Congenital Absence Of Pulmonic Valve | |
| Congenital Absence Of Spleen | |
| Congenital Absence Of Thymus | |
| Congenital Absence Of Tibia | |
| Congenital Absence Of Uterus | |
| Congenital Absence Of Uvula | |
| Congenital Absence Of Vas Deferens | |
| Congenital Absence, Atresia And Stricture Of Auditory Canal (External) | |
| Congenital Absent Nipple | |
| Congenital Accessory Skin Tag | |
| Congenital Adrenal Hyperplasia | A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. |
| Congenital Agranulocytosis | Congenital onset of a marked decrease in the number of granulocytes. |
| Congenital Alopecia | |
| Congenital Amaurosis Of Retinal Origin | |
| Congenital Amegakaryocytic Thrombocytopenia | Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. |
| Congenital Analbuminemia | |
| Congenital Anemia | |
| Congenital Aneurysm Of Ascending Aorta | |
| Congenital Ankyloblepharon | |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay | |
| Congenital Anomaly Of Anterior Segment Of Eye | |
| Congenital Anomaly Of Aortic Arch | |
| Congenital Anomaly Of Eyelid | |
| Congenital Anomaly Of Ischium | |
| Congenital Anomaly Of Nose | |
| Congenital Anomaly Of Rectum | |
| Congenital Anomaly Of Tongue | |
| Congenital Anosmia | |
| Congenital Aphakia | OMIM mapping confirmed by DO. [SN]. |
| Congenital Aplasia Of Inner Ear | |
| Congenital Arteriovenous Malformation | |
| Congenital Atransferrinemia | Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. |
| Congenital Atresia Of Aortic Valve | |
| Congenital Atresia Of Colon | |
| Congenital Atresia Of Extrahepatic Bile Duct | |
| Congenital Atresia Of Ileum | |
| Congenital Atresia Of Large Intestine | |
| Congenital Atresia Of Larynx | |
| Congenital Atresia Of Mitral Valve | |
| Congenital Atresia Of Nasopharynx | |
| Congenital Atresia Of Pulmonary Artery | |
| Congenital Atresia Of Pulmonary Valve | |
| Congenital Atresia Of Rectum | |
| Congenital Atresia Of Trachea | |
| Congenital Atresia Of Vas Deferens | |
| Congenital Atrophy Of Thyroid | |
| Congenital Bilateral Aplasia Of Vas Deferens | |
| Congenital Bilateral Cataracts | |
| Congenital Bilateral Ptosis | |
| Congenital Bile Acid Synthesis Defect Type 3 | |
| Congenital Bleeding Disorder | |
| Congenital Blindness | Blindness with onset at birth. |
| Congenital Bronchogenic Cyst | |
| Congenital Camptodactyly | |
| Congenital Cardiomyopathy | |
| Congenital Cardiovascular Disorder | |
| Congenital Cataract | A congenital cataract. |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy | |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration | |
| Congenital Central Diabetes Insipidus | |
| Congenital Central Hypothyroidism | |
| Congenital Central Hypoventilation | |
| Congenital Cerebellar Ataxia | |
| Congenital Cerebral Hernia | |
| Congenital Cerebral Palsy | |
| Congenital Chloride Diarrhea | |
| Congenital Clubfoot | |
| Congenital Coloboma Of Iris | |
| Congenital Color Blindness | |
| Congenital Condition | |
| Congenital Conductive Hearing Loss | |
| Congenital Constriction Of Pylorus | |
| Congenital Contractural Arachnodactyly | |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay | |
| Congenital Corneal Dystrophy | |
| Congenital Corneal Opacity | |
| Congenital Craniofacial Dysostosis | |
| Congenital Cutis Laxa | |
| Congenital Cystic Eyeball | |
| Congenital Cystic Kidney Disease | |
| Congenital Cytomegalovirus Infection | |
| Congenital Deafness | |
| Congenital Defect Of Skull And Scalp | |
| Congenital Defect Of The Pericardium | |
| Congenital Deficiency Of Intrinsic Factor | |
| Congenital Deficiency Of Pulmonary Surfactant Protein B | |
| Congenital Dermal Melanocytosis | |
| Congenital Diaphragmatic Hernia | A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. |
| Congenital Dilatation Of Bladder | |
| Congenital Dilatation Of Pulmonary Artery | |
| Congenital Dilatation Of Ureter | |
| Congenital Dislocation | |
| Congenital Dislocation Of Knee | |
| Congenital Dislocation Of Radial Head | |
| Congenital Disorder Of Glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| Congenital Diverticulum Of Pharynx | |
| Congenital Duodenal Obstruction Due To Malrotation Of Intestine | |
| Congenital Duplication Of Intestine | |
| Congenital Duplication Of Uterus | |
| Congenital Dysmotility Of Small Intestine | |
| Congenital Dysplasia | |
| Congenital Dysplasia Of The Hip | |
| Congenital Ectodermal Dysplasia Of Face | |
| Congenital Ectopic Pupil | |
| Congenital Emphysema | |
| Congenital Encephalopathy | |
| Congenital Epiblepharon | |
| Congenital Epicanthus | |
| Congenital Erythroid Hypoplasia | |
| Congenital Esotropia | |
| Congenital Euryblepharon | |
| Congenital Eventration Of Diaphragm | |
| Congenital Exfoliative Erythroderma | |
| Congenital Exomphalos | |
| Congenital Eye Disorders (Excl Glaucoma) | |
| Congenital Facial Asymmetry | |
| Congenital Failure Of Fusion | |
| Congenital Fiber Type Disproportion | |
| Congenital Fibrosis Of The Extraocular Muscles | |
| Congenital Finger Flexion Contractures | Multiple bent (flexed) finger joints that cannot be straightened actively or passively. |
| Congenital Flat Foot | |
| Congenital Foot Contraction Deformities | |
| Congenital Foot Contractures | |
| Congenital Foot Deformity | |
| Congenital Fusion Of Ribs | |
| Congenital Generalized Lipodystrophy | OMIM mapping confirmed by DO. [SN]. |
| Congenital Genu Recurvatum | |
| Congenital Glenoid Dysplasia | |
| Congenital Glucose-Galactose Malabsorption | |
| Congenital Goiter | An enlargement of the thyroid gland with congenital onset. |
| Congenital Hallux Valgus | |
| Congenital Heart Block | OMIM mapping confirmed by DO. [SN]. |
| Congenital Heart Defects | |
| Congenital Heart Disease | OMIM mapping confirmed by DO. [SN]. |
| Congenital Hemangioma | |
| Congenital Hemangiomatosis | |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects | |
| Congenital Hemihypertrophy | |
| Congenital Hemivertebra | |
| Congenital Hereditary Muscular Dystrophy | |
| Congenital Hernia | |
| Congenital Hernia Of Foramen Of Bochdalek | |
| Congenital Hernia Of Foramen Of Morgagni | |
| Congenital Hydrocephalus | |
| Congenital Hydronephrosis | |
| Congenital Hyperinsulinism | |
| Congenital Hyperthyroidism | |
| Congenital Hypertrichosis | |
| Congenital Hypertrichosis Lanuginosa | |
| Congenital Hypertrophy | |
| Congenital Hypertrophy Of Left Ventricle | |
| Congenital Hypertrophy Of Retinal Pigment Epithelium | Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium. |
| Congenital Hypofibrinogenemia | |
| Congenital Hypogammaglobulinemia | |
| Congenital Hypogonadotropic Hypogonadism | |
| Congenital Hypomyelinating Neuropathy | |
| Congenital Hypoparathyroidism | Deficiency of parathyroid hormone with congenital onset. |
| Congenital Hypopigmentation | |
| Congenital Hypoplasia Of Adrenal Gland | |
| Congenital Hypoplasia Of Aortic Arch | |
| Congenital Hypoplasia Of Bile Duct | |
| Congenital Hypoplasia Of Breast | |
| Congenital Hypoplasia Of Clavicle | |
| Congenital Hypoplasia Of Femur | |
| Congenital Hypoplasia Of Kidney | |
| Congenital Hypoplasia Of Lung | |
| Congenital Hypoplasia Of Ovary | |
| Congenital Hypoplasia Of Pancreas | |
| Congenital Hypoplasia Of Part Of Brain | |
| Congenital Hypoplasia Of Penis | |
| Congenital Hypoplasia Of Pulmonary Artery | |
| Congenital Hypoplasia Of Radius | |
| Congenital Hypoplasia Of Thymus | |
| Congenital Hypoplasia Of Tricuspid Valve | |
| Congenital Hypoplastic Anemia | |
| Congenital Hypothyroidism | A hypothyroidism that is present at birth. |
| Congenital Hypothyroidism With Ectopic Thyroid | |
| Congenital Hypothyroidism Without Goiter | |
| Congenital Hypotrichia | |
| Congenital Ichthyosis | |
| Congenital Idiopathic Intestinal Pseudoobstruction | |
| Congenital Insufficiency Of Pulmonary Valve | |
| Congenital Intestinal Aganglionosis | |
| Congenital Intestinal Obstruction | |
| Congenital Isolated Thyroid Stimulating Hormone Deficiency | |
| Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome | |
| Congenital Keratoglobus | |
| Congenital Kyphoscoliosis | |
| Congenital Kyphosis | |
| Congenital Lactic Acidosis | A form of lactic acidemia with congenital onset. |
| Congenital Lamellar Cataract | |
| Congenital Laryngeal Adductor Palsy | |
| Congenital Leptin Deficiency | |
| Congenital Leukocyte Adherence Deficiency | |
| Congenital Lip Pits | |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi | |
| Congenital Listeriosis | |
| Congenital Lobulation Of Kidney | |
| Congenital Localized Absence Of Skin | |
| Congenital Long Qt Syndrome | |
| Congenital Lymphatic Malformation | |
| Congenital Macrocheilia | |
| Congenital Macrodactylia | |
| Congenital Macroglossia | |
| Congenital Macroorchidism | |
| Congenital Malaria | |
| Congenital Malformation Of Cardiac Chambers And Connections, Unspecified | |
| Congenital Malformation Of Cerebral Vessels Nos | |
| Congenital Malformation Of Cornea Nos | |
| Congenital Malformation Of Corpus Callosum | |
| Congenital Malformation Of The Left Heart | |
| Congenital Malformation Syndrome | |
| Congenital Malformations Of Palate, Not Elsewhere Classified In Icd10Cm | |
| Congenital Malrotation Of Intestine | |
| Congenital Melanocytic Nevus | |
| Congenital Membranous Cataract | |
| Congenital Meningocele | |
| Congenital Mesoblastic Nephroma | |
| Congenital Metabolic Disorder | |
| Congenital Methemoglobinemia | |
| Congenital Microcephaly | Microcephaly (HP:0000252) that is present already at the time of birth. |
| Congenital Microtia | |
| Congenital Muscle Disorder | |
| Congenital Muscular Dystrophy (Disorder) | |
| Congenital Muscular Hypertrophy-Cerebral Syndrome | |
| Congenital Myasthenic Syndrome Ib | |
| Congenital Myasthenic Syndromes | |
| Congenital Myopathy With Myasthenic-Like Onset | |
| Congenital Myotonic Dystrophy | |
| Congenital Naevus | |
| Congenital Nephrogenic Diabetes Insipidus | |
| Congenital Neuroblastoma | |
| Congenital Neuropathy | |
| Congenital Neutropenia | A form of neutropenia with congenital onset. |
| Congenital Neutropenia, Myelofibrosis, Nephromegaly Syndrome | |
| Congenital Non-Progressive Ataxia | |
| Congenital Nonbullous Ichthyosiform Erythroderma | |
| Congenital Nystagmus | A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. |
| Congenital Obstruction | |
| Congenital Obstruction Of Bladder Neck | |
| Congenital Obstructive Azoospermia | |
| Congenital Obstructive Hydrocephalus | |
| Congenital Ocular Coloboma (Disorder) | |
| Congenital Omphalocele | |
| Congenital Onychodystrophy | |
| Congenital Osteodystrophy | |
| Congenital Osteopetrosis | |
| Congenital Pain Insensitivity | |
| Congenital Palmoplantar Keratodermia | |
| Congenital Palmoplantar Keratosis | |
| Congenital Pectus Carinatum | |
| Congenital Pectus Excavatum | |
| Congenital Pelviureteric Junction Obstruction | |
| Congenital Peripheral Neuropathy | |
| Congenital Pes Cavus | |
| Congenital Phimosis | |
| Congenital Porencephaly | |
| Congenital Posterior Polar Cataract | |
| Congenital Posterior Urethral Valves | |
| Congenital Prelingual Deafness | |
| Congenital Premature Fusion | |
| Congenital Pseudoarthrosis | |
| Congenital Ptosis | A ptosis characterized by eyelid drop present at birth. |
| Congenital Pulmonary Acinar Dysplasia | |
| Congenital Pulmonary Arteriovenous Malformation | |
| Congenital Pyloric Atresia | Congenital atresia of the pylorus. |
| Congenital Renal Hypoplasia | |
| Congenital Reticular Ichthyosiform Erythroderma | |
| Congenital Retinal Aneurysm | |
| Congenital Retinal Fold | |
| Congenital Retrognathism | |
| Congenital Rubella Infection | |
| Congenital Rubella Syndrome | |
| Congenital Scoliosis | |
| Congenital Scoliosis Due To Bony Malformation | |
| Congenital Secretory Diarrhea, Sodium Type (Disorder) | |
| Congenital Sensorineural Hearing Loss | |
| Congenital Shortened Small Intestine | |
| Congenital Small Ears | |
| Congenital Spondylolisthesis | |
| Congenital Stenosis Of Aortic Valve | |
| Congenital Stenosis Of Aqueduct Of Sylvius | |
| Congenital Stenosis Of Nasal Pyriform Aperture | |
| Congenital Stenosis Of Pulmonary Valve | |
| Congenital Strabismus | |
| Congenital Structural Myopathy | |
| Congenital Subaortic Stenosis | |
| Congenital Supravalvular Aortic Stenosis | |
| Congenital Symmetrical Palmoplantar Keratosis | |
| Congenital Talipes Calcaneovalgus | |
| Congenital Thrombocytopenia | Thrombocytopenia with congenital onset. |
| Congenital Thrombophilia | |
| Congenital Thrombotic Disease, Due To Protein C Deficiency | |
| Congenital Thrombotic Thrombocytopenic Purpura | disease cluster belonging to disease group immune |
| Congenital Thyroid Hypoplasia | |
| Congenital Torticollis | |
| Congenital Total Cataract | |
| Congenital Tracheobronchomegaly | |
| Congenital Unilateral Absence | |
| Congenital Ureteropelvic Junction Obstruction | |
| Congenital Urethral Valve | |
| Congenital Urinary Tract Obstruction | |
| Congenital Varicella Syndrome | |
| Congenital Vascular Proliferation | |
| Congenital Vitreous Anomaly | |
| Congenital Von Willebrand'S Disease | |
| Congenital Zika Syndrome | |
| Congenitally Corrected Transposition Of The Great Arteries | |
| Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect | |
| Congestive Heart Failure | Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. |
| Congestive Ophthalmopathy | |
| Conjugate Nystagmus | |
| Conjugated Hyperbilirubinemia | |
| Conjunctival Dermolipoma | |
| Conjunctival Hamartoma | A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. |
| Conjunctival Intraepithelial Neoplasia | |
| Conjunctival Melanosis | |
| Conjunctival Scar | |
| Conjunctival Telangiectasis | |
| Conjunctivitis | Conjunctivitis is a conjunctival disease described as a inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids, which is most commonly due to an allergic reaction or an infection (usually viral, but sometimes bacterial. Fungal infections are rare and occur mainly in people who use corticosteroid eye drops for a long time or have eye injuries involving vegetable matter. Newborns are particularly susceptible to eye infections, which they acquire from organisms in the mother's birth canal (neonatal conjunctivitis. |
| Conjunctivitis, Acute Hemorrhagic | |
| Conjunctivitis, Giant Papillary | |
| Conjunctivochalasis | |
| Conn Adenoma | |
| Conn Syndrome | |
| Connective Tissue Disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| Connective Tissue Hyperplasia | |
| Connective Tissue Inflammation | |
| Connective Tissue Nevus, Nos | |
| Conotruncal Anomaly Face Syndrome | |
| Conotruncal Defect | A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. |
| Conotruncal Heart Malformations (Disorder) | |
| Consecutive Exotropia | |
| Constant Exotropia | |
| Constipation - Functional | |
| Constitutional Aplastic Anemia | |
| Constitutional Delay Of Growth And Puberty | |
| Constitutional Delay Of Puberty | |
| Constitutional Mismatch Repair Deficiency Syndrome | |
| Constitutional Obesity | |
| Constricting Bands, Congenital | |
| Constrictive Bronchiolitis | |
| Constrictive Median Neuropathy | Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. |
| Consumptive Coagulopathy | |
| Contact Dermatitis | |
| Contact Urticaria | |
| Contagious Bovine Pleuropneumonia | |
| Contiguous Abcd1 Dxs1357E Deletion Syndrome | |
| Contiguous Abcd1-Dxs1375E Deletion Syndrome | |
| Contiguous Gene Syndrome | |
| Continuous Muscle Fiber Activity, Hereditary | |
| Continuous Spike And Waves During Slow Sleep | |
| Contracture | Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. |
| Contralateral Breast Cancer | |
| Contralateral Breast Carcinoma | |
| Contrast - Induced Nephropathy | |
| Conus Medullaris Syndrome | |
| Conventional (Clear Cell) Renal Cell Carcinoma | |
| Conventional Dermatofibrosarcoma Protuberans | |
| Conventional Lipoma | |
| Convergence Insufficiency | |
| Convergence Nystagmus | |
| Convulsions | |
| Cooley'S Anemia | |
| Coombs Positive Hemolytic Anemia | |
| Copd Exacerbation | |
| Copd, Severe Early-Onset | |
| Copper Toxicosis, Idiopathic | |
| Copper-Overload Cirrhosis | |
| Coprophilia (Disorder) | |
| Coproporphyria | |
| Coproporphyria, Digenic | |
| Coproporphyrinuria | |
| Cor Pulmonale | A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. |
| Cor Triatriatum | |
| Coralliform Cataract | |
| Core Binding Factor Acute Myeloid Leukemia | |
| Corn Of Toe | |
| Cornea Plana | NT MGI. |
| Cornea Verticillata | |
| Corneal Allograft Rejection | |
| Corneal Defect | |
| Corneal Degeneration | |
| Corneal Deposit | |
| Corneal Dystrophy | |
| Corneal Endotheliitis | |
| Corneal Epithelial Loss | |
| Corneal Erosion | An erosion or abrasion of the cornea's outermost layer of epithelial cells. |
| Corneal Fibrosis | |
| Corneal Graft Rejection | |
| Corneal Guttata | Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. |
| Corneal Hypoesthesia | |
| Corneal Infection | |
| Corneal Melt | |
| Corneal Neovascularization | |
| Corneal Pannus | |
| Corneal Thinning | |
| Corneal Ulcer | |
| Cornelia De Lange Syndrome | A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. |
| Coronal Craniosynostosis | Premature closure of the coronal suture of skull. |
| Coronal Hypospadias | A mild form of hypospadias in which the urethra opens just under the corona glandis. |
| Coronaropathy | |
| Coronary Aneurysm | |
| Coronary Arteriosclerosis | |
| Coronary Arteritis | |
| Coronary Artery Atheroma | |
| Coronary Artery Disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
| Coronary Artery Dissection, Spontaneous | |
| Coronary Artery Ectasia | disease cluster belonging to disease group cardiovascular |
| Coronary Artery Vasospasm | |
| Coronary Cataract | |
| Coronary Heart Disease | |
| Coronary Microvascular Disease | |
| Coronary Microvascular Dysfunction | |
| Coronary Occlusion | |
| Coronary Restenosis | |
| Coronary Sclerosis, Medial, Of Infancy | |
| Coronary Sinus Defect | |
| Coronary Stenosis | |
| Coronary Thrombosis | |
| Coronary Venous Dissection | |
| Corpus Callosum Agenesis | |
| Corpus Callosum Agenesis Neuronopathy | |
| Corpus Callosum Malformation | |
| Corpus Luteum Cyst | |
| Cortex Bone Disorders | |
| Cortical Adenoma Of Kidney | |
| Cortical Cataract | A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. |
| Cortical Congenital Hyperostosis | |
| Cortical Diaphyseal Thickening Of The Upper Limbs | |
| Cortical Displasia | |
| Cortical Dysplasia | The presence of developmental dysplasia of the cerebral cortex. |
| Cortical Dysplasia With Focal Epilepsy Syndrome | |
| Cortical Hyperostosis | |
| Cortical Irregularity | An abnormal irregularity of cortical bone. |
| Cortical Malformations, Occipital | |
| Cortical Pulverulent Cataract | A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. |
| Cortical Thickening Of Long Bone Diaphyses | Abnormal thickening of the cortex of the diaphyseal region of long bones. |
| Cortical, Lamellar, Or Zonular Nonsenile Cataract | |
| Corticobasal Degeneration | |
| Corticosteroid Induced Cataract | |
| Corticosteroid-Binding Globulin Deficiency | |
| Corticosteroid-Binding Globulin, Elevated | |
| Corticosteroid-Induced Glaucoma | |
| Corticosterone Methyl Oxidase Type I Deficiency | |
| Corticosterone Methyl Oxidase Type Ii Deficiency | |
| Corticostriatal-Spinal Degeneration | |
| Cortisol Deficiency | |
| Cortisone Reductase Deficiency | |
| Costello Syndrome (Disorder) | |
| Costello Syndrome, Severe | |
| Cough Variant Asthma | An asthma that is characterized by chronic nonproductive cough without shortness of breath. |
| Coup De Sabre Scleroderma | |
| Cowchock Syndrome | |
| Cowden Syndrome | |
| Cowpox | A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. |
| Coxa Magna | Widening of the femoral head and neck. |
| Coxiella Burnetii Infection | |
| Coxitis | |
| Cranial Arteritis | |
| Cranial Fasciitis | |
| Cranial Nerve Compression | |
| Cranial Nerve Palsies | |
| Cranial Neuropathies, Multiple | |
| Craniodiaphyseal Dysplasia | An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. |
| Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) | |
| Cranioectodermal Dysplasia | |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome | |
| Craniofacial Asymmetry | Asymmetry of the bones of the skull and the face. |
| Craniofacial Deafness Hand Syndrome | |
| Craniofacial Deformity | |
| Craniofacial Dysostosis | |
| Craniofacial Dysostosis Type 1 | |
| Craniofacial Dystonia | |
| Craniofacial Fibrous Dysplasia | |
| Craniofacial Osteosclerosis | Abnormally increased density of craniofacial bone tissue. |
| Craniofacial Ulnar Renal Syndrome | |
| Craniofrontonasal Dysplasia | |
| Craniolenticulosutural Dysplasia | |
| Craniomandibular Osteopathy | |
| Craniometaphyseal Dysplasia, Autosomal Dominant | |
| Craniometaphyseal Dysplasia, Autosomal Recessive Type | |
| Cranioosteoarthropathy | |
| Craniopagus | |
| Craniopharyngioma | |
| Craniopharyngioma, Child | |
| Craniorachischisis | Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. |
| Cranioschisis | incomplete closure of the skull, usually congenital |
| Craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| Craniosynostosis With Ectopia Lentis | |
| Craniosynostosis, Adelaide Type | |
| Craniosynostosis, Philadelphia Type | Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly. |
| Craniosynostosis, Type 1 | |
| Craniotubular Hyperostosis | |
| Creatine Deficiency, X-Linked | |
| Crescendo Transient Ischemic Attacks | |
| Crest Syndrome | |
| Creutzfeldt-Jakob Disease | OMIM mapping confirmed by DO. [SN]. |
| Creutzfeldt-Jakob Disease, Familial | |
| Creutzfeldt-Jakob Disease, Sporadic | |
| Cri-Du-Chat Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Cribriform Neuroepithelial Tumor | |
| Crigler Najjar Syndrome | |
| Crisponi Syndrome | |
| Crisponi/Cold-Induced Sweating Syndrome 3 | |
| Crisscross Heart | |
| Critical Congenital Heart Disease | |
| Critical Illness Myopathy | |
| Critical Lower Limb Ischemia | |
| Crohn Disease | |
| Crohn'S Disease Of Large Bowel | |
| Crohn'S Disease Of The Ileum | |
| Cronkhite-Canada Syndrome | |
| Crooke Cell Adenoma | |
| Crossed Polydactyly, Type I | |
| Croup | A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. |
| Crouzon Syndrome With Acanthosis Nigricans (Disorder) | |
| Crumpled Ear | Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. |
| Crusted Scabies | |
| Crusting Erythematous Dermatitis | |
| Cruveilhier-Baumgarten Syndrome | |
| Cryofibrinogenemia | |
| Cryoglobulinemia | A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004 |
| Cryoglobulinemic Glomerulonephritis | |
| Cryoglobulinemic Vasculitis | |
| Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly | |
| Cryopyrin-Associated Periodic Syndromes | |
| Cryptitis | |
| Cryptococcus Gattii Infection | |
| Cryptogenic Chronic Hepatitis | |
| Cryptogenic Infantile Spasms | |
| Cryptogenic Late-Onset Epileptic Spasms | |
| Cryptogenic Multifocal Ulcerous Stenosing Enteritis | |
| Cryptogenic Partial Complex Epilepsy | |
| Cryptogenic Pulmonary Eosinophilia | |
| Cryptogenic Tonic-Clonic Epilepsy | |
| Cryptophthalmos | Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. |
| Cryptophthalmos Syndrome | |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated | |
| Cryptorchidism | Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. |
| Cryptosporidiosis | A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. |
| Cryptotia | |
| Crystal Nephropathy | |
| Crystalline Cataract | |
| Csssi | |
| Ctla4 Deficiency | |
| Ctla4 Haploinsufficiency | |
| Cuboidal Metacarpal | Severely shortened metacarpal with a cuboidal appearance. |
| Culler-Jones Syndrome | |
| Curling Ulcer | |
| Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome | |
| Currarino Triad | |
| Curved Distal Phalanges Of The Hand | |
| Curved Fingers | |
| Cushing Syndrome | |
| Cutaneous Anaphylaxis | |
| Cutaneous Anthrax | An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. |
| Cutaneous B-Cell Non-Hodgkin Lymphoma | |
| Cutaneous Candidiasis | |
| Cutaneous Capillary Malformation | |
| Cutaneous Fibrous Histiocytoma | |
| Cutaneous Fibrous Histiocytoma, Epithelioid Variant | |
| Cutaneous Finger Syndactyly | A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. |
| Cutaneous Fistula | |
| Cutaneous Focal Mucinosis | |
| Cutaneous Follicular Lymphoma | |
| Cutaneous Hypersensitivity | |
| Cutaneous Leiomyoma | The presence of leiomyoma of the skin. |
| Cutaneous Leiomyosarcoma | |
| Cutaneous Lymphoma | |
| Cutaneous Malignant Melanoma 2 | |
| Cutaneous Mastocytosis | |
| Cutaneous Melanoma | |
| Cutaneous Mucormycosis | |
| Cutaneous Neurofibroma | |
| Cutaneous Nocardiosis | |
| Cutaneous Polyarteritis Nodosa | |
| Cutaneous Pseudolymphoma | |
| Cutaneous Sarcoidosis | |
| Cutaneous Small Vessel Vasculitis | |
| Cutaneous Squamous Cell Carcinoma Of The Head And Neck | |
| Cutaneous Syndactyly Of Toes | A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. |
| Cutaneous T-Cell Lymphoma | |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial | |
| Cutaneous Vascular Malformation | |
| Cutaneous Xanthoma | |
| Cutaneous/Peripheral T-Cell Lymphoma | |
| Cutis Gyrata Syndrome Of Beare And Stevenson | |
| Cutis Laxa | A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. |
| Cutis Marmorata | A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather. |
| Cutis Marmorata Telangiectatica Congenita | |
| Cutis Verticis Gyrata | |
| Cyanosis | A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. |
| Cyanosis, Transient Neonatal | |
| Cyclic Hematopoesis | |
| Cyclic Neutropenia | |
| Cyclical Cushing'S Syndrome | |
| Cyclical Vomiting Syndrome (Disorder) | |
| Cyclin-Dependent Kinase-Like 5 Deficiency | |
| Cyclocephaly | |
| Cycloid Psychosis | |
| Cyclothymic Disorder | A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. |
| Cyp1A2 Polymorphism | |
| Cyp2B6 Polymorphism | |
| Cyp2C19 Polymorphism | |
| Cyp2C19 Poor Metaboliser Status | |
| Cyp2C9 Polymorphism | |
| Cyp2D6 Polymorphism | |
| Cyst | A body resembling a cyst: as a 1: capsule formed about a minute organism going into a resting or spore stage; also: this capsule with its contents. 2: a resistant cover about a parasite produced by the parasite or the host. |
| Cyst Benign | |
| Cyst Of Biliary Tract | |
| Cyst Of Skin | |
| Cystadenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. |
| Cystadenofibroma | An adenofibroma that is composed_of epithelial ovarian tissue. |
| Cystadenoma | An adenoma that is a cystic. |
| Cystathionase Deficiency | |
| Cystic Adenomatoid Malformation Of Lung, Congenital | |
| Cystic Breast Disease | |
| Cystic Disease | |
| Cystic Echinocccosis | |
| Cystic Fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| Cystic Fibrosis In Children | |
| Cystic Fibrosis Modifier 1 | |
| Cystic Fibrosis Related Diabetes | |
| Cystic Fibrosis With Meconium Ileus | |
| Cystic Kidney | |
| Cystic Kidney Disease With Ventriculomegaly | |
| Cystic Lesions Of The Pinnae | |
| Cystic Liver Disease | |
| Cystic Lung Lesion | |
| Cystic Medial Necrosis | A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. |
| Cystic Medial Necrosis Of Aorta | |
| Cystic Neoplasm | |
| Cystic Parathyroid Adenoma, Somatic | |
| Cystic Partially Differentiated Nephroblastoma | |
| Cystic Periventricular Leukomalacia | |
| Cystic Renal Dysplasia | |
| Cysticercosis | A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. |
| Cystiniuria | |
| Cystinosis | |
| Cystinosis, Atypical Nephropathic (Disorder) | |
| Cystinosis, Benign, Nonnephropathic | |
| Cystinosis, Infantile Nephropathic | |
| Cystitis | |
| Cystocele | When the tough fibrous wall between a woman's bladder and her vagina (the pubocervical fascia) is torn, allowing the bladder to herniate into the vagina. |
| Cystocele (Female) | |
| Cystoid Macular Retinal Degeneration | |
| Cytochrome C Oxidase I Deficiency | |
| Cytochrome-C Oxidase Deficiency | |
| Cytogenetically Normal Acute Myeloid Leukemia | |
| Cytokine Release Syndrome | |
| Cytokine Storm | |
| Cytolytic Hepatitis | |
| Cytomegaloviral Colitis | |
| Cytomegaloviral Pneumonia | |
| Cytomegalovirus Encephalitis | |
| Cytomegalovirus Hepatitis | |
| Cytomegalovirus Infection Reactivation | |
| Cytomegalovirus Retinitis | |
| Cytomegalovirus Viremia | |
| Cytosolic Acetoacetyl-Coa Thiolase Deficiency | |
| Czech Dysplasia, Metatarsal Type | |
| D - Transposition Of The Great Vessels | |
| D-2-Hydroxyglutaric Aciduria | An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. |
| D-Glyceric Aciduria | |
| D-Glycericacidemia | |
| Dacryoadenitis | |
| Dacryocystitis | |
| Dactylitis | |
| Dairy Intolerance | |
| Dandy Walker Cyst | |
| Dandy Walker Variant | |
| Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures | |
| Dandy-Walker Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Dandy-Walker Syndrome, Familial | |
| Danish Type Familial Amyloid Cardiomyopathy | |
| Darier Disease, Acral Hemorrhagic Type | |
| Darier Disease, Segmental | |
| De Barsy Syndrome | |
| De La Chapelle Dysplasia | |
| De Novo Myelodysplastic Syndromes | |
| De Quervain Disease | |
| De Sanctis-Cacchione Syndrome | |
| De Toni-Debre-Fanconi Syndrome | |
| De Vaal'S Syndrome | |
| Deaf Mutism | |
| Deaf-Blind Syndromes | |
| Deafness | An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.|An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.|A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. |
| Decayed, Missing, And Filled Teeth | |
| Decidual Endometritis | |
| Deciduoma | |
| Decompensated Cardiac Failure | |
| Decompression Sickness | |
| Decreased Erythroid Precursor Production | |
| Decreased Serum Complement C4B | |
| Decreased Size Of Nerve Terminals | A reduction in the size of nerve terminals. |
| Dedifferentiated Chondrosarcoma | |
| Dedifferentiated Solitary Fibrous Tumor | |
| Deep Circumscribed Morphea | |
| Deep Endometriosis | |
| Deep Pain On Intercourse | |
| Deep Penetrating Nevus | |
| Deep Seated Dermatophytosis | |
| Deep Thrombophlebitis | |
| Deep Vein Thrombosis | |
| Deep Vein Thrombosis Of Lower Limb | |
| Defect Of Articular Cartilage | |
| Defect Of Vertebral Segmentation | |
| Defective Thyroglobulin Synthesis | |
| Defensive Aggression | |
| Deficiency Of 3-Oxoacid Coa-Transferase | |
| Deficiency Of Acetyl-Coa Acetyltransferase | |
| Deficiency Of Acetyl-Coa Acyltransferase (Disorder) | |
| Deficiency Of Acetylcholinesterase | |
| Deficiency Of Adenylate Kinase | |
| Deficiency Of Aldehyde Oxidase | |
| Deficiency Of Aminopeptidase | |
| Deficiency Of Aromatic-L-Amino-Acid Decarboxylase | |
| Deficiency Of Bisphosphoglycerate Mutase | |
| Deficiency Of Butyryl-Coa Dehydrogenase | |
| Deficiency Of Cathepsin C | |
| Deficiency Of Cathepsin D | |
| Deficiency Of Citrate(Si)-Synthase | |
| Deficiency Of Cobalamin G | |
| Deficiency Of Dehydrogenase | |
| Deficiency Of Dihydrofolate Reductase | |
| Deficiency Of Enoyl-Coa Hydratase | |
| Deficiency Of Factor V [Labile] | |
| Deficiency Of Factor Vii [Stable] | |
| Deficiency Of Factor X [Stuart-Prower] | |
| Deficiency Of Factor Xii [Hageman] | |
| Deficiency Of Fructokinase | |
| Deficiency Of Galactokinase | |
| Deficiency Of Glucose-6-Phosphate Dehydrogenase | |
| Deficiency Of Glucose-6-Phosphate Isomerase | |
| Deficiency Of Glutamate Decarboxylase | |
| Deficiency Of Glycerol Kinase | |
| Deficiency Of Hexokinase (Disorder) | |
| Deficiency Of Iodide Peroxidase (Disorder) | |
| Deficiency Of Isomerase | |
| Deficiency Of Lyase | |
| Deficiency Of Maleylacetoacetate Isomerase | |
| Deficiency Of Mannose-6-Phosphate Isomerase | |
| Deficiency Of Mevalonate Kinase | |
| Deficiency Of Monooxygenase | |
| Deficiency Of Oxidase | |
| Deficiency Of Phosphoglycerate Kinase | |
| Deficiency Of Phosphorylase Kinase | |
| Deficiency Of Phosphoserine Phosphatase | |
| Deficiency Of Platelet Glycoprotein 1B | |
| Deficiency Of Prolidase | |
| Deficiency Of Pyruvate Kinase | |
| Deficiency Of Reductase | |
| Deficiency Of Sedoheptulokinase | |
| Deficiency Of Steroid 21-Monooxygenase | |
| Deficiency Of Succinate-Coa Ligase | |
| Deficiency Of Sulfatase | |
| Deficiency Of Testosterone Biosynthesis | |
| Deficiency Of Triacylglycerol Lipase | |
| Deficiency Of Uroporphyrinogen Iii Synthase | |
| Deficiency Of Vitamin D3 | |
| Deficiency, Hexosediphosphatase | |
| Deformed Radius | |
| Deforming Arthritis | |
| Deformity Of Facial Bone | |
| Deformity Of Lower Limb | |
| Deformity Of Spine | |
| Deformity Of Toe | |
| Degeneration Of Lumbar Intervertebral Disc | |
| Degeneration Of Spine | |
| Degeneration Of The Striatum | |
| Degenerative Aortic Valve Disease | |
| Degenerative Intervertebral Discs | |
| Degenerative Lumbar Spinal Stenosis | |
| Degenerative Mitral Valve Disease | |
| Degenerative Myelopathy | |
| Degenerative Polyarthritis | |
| Degenerative Scoliosis | |
| Degenerative Spondylolisthesis | |
| Degenerative Vitreoretinopathy | |
| Dehydrated Hereditary Stomatocytosis | |
| Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, And Perinatal Edema | |
| Dejerine-Sottas Disease (Disorder) | |
| Dejerine-Sottas Neuropathy, Autosomal Dominant | |
| Dejerine-Sottas Syndrome, Autosomal Dominant | |
| Delayed Adrenarche | |
| Delayed Cns Myelination | Delayed myelination in the central nervous system. |
| Delayed Dark Adaptation | increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights |
| Delayed Delivery | |
| Delayed Ischaemic Neurological Deficit | |
| Delayed Menarche | First period after the age of 15 years. |
| Delayed Sleep Phase | |
| Delayed Sleep Phase Syndrome | disease cluster belonging to disease group neurological |
| Deletion 11P13 | |
| Deletion Of Long Arm Of Chromosome 18 | |
| Delirium | |
| Delta Beta^0^ Thalassemia | |
| Delta-Beta Thalassemia | |
| Delta-Plus-Thalassemia | |
| Delta-Thalassemia | |
| Delta-Zero-Thalassemia, Knossos Type | |
| Delta^0^ Thalassemia | |
| Delusion Of Persecution | |
| Delusions | A belief that is pathological and is held despite evidence to the contrary. |
| Dementia | An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. |
| Dementia Associated With Alcoholism | |
| Dementia Due To Alzheimer'S Disease (Disorder) | |
| Dementia Due To Parkinson'S Disease | |
| Dementia In Parkinson'S Disease | |
| Dementia Of Frontal Lobe Type | |
| Dementia, Familial Danish | |
| Dementia, Vascular | |
| Demyelinating Disease Of Central Nervous System | |
| Demyelinating Sensory Neuropathy | |
| Demyelination Of Spinal Cord | |
| Dend Syndrome | |
| Dendritic Cell Neoplasm | |
| Dendritic Cell Sarcoma, Follicular | |
| Dendritic Cell Sarcoma, Interdigitating | |
| Dengue Fever | |
| Dengue Shock Syndrome | A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. |
| Dengue With Warning Signs | |
| Dengue Without Warning Signs | |
| Dent Disease | A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. |
| Dental Caries | Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification. |
| Dental Caries In Children | |
| Dental Caries Of Smooth Surface | |
| Dental Caries Pit And Fissure | |
| Dental Cyst | |
| Dental Enamel Hypoplasia | |
| Dental Fluorosis | |
| Dental Fluorosis, Acquired | |
| Dental Plaque Induced Gingivitis | |
| Dental Pulp Exposure | |
| Dental Pulp Necrosis | |
| Dental Pulp Stone | |
| Dental White Spot | |
| Dentatorubral-Pallidoluysian Atrophy | A spinocerebellar degeneration that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. |
| Dentigerous Cyst | |
| Dentin Bridge | |
| Dentin Dysplasia | A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. |
| Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth | |
| Dentin Sensitivity | |
| Dentin, Secondary | |
| Dentinogenesis Imperfecta | OMIM mapping confirmed by DO. [SN]. |
| Dentinogenesis Imperfecta - Shield'S Type Iii (Disorder) | |
| Dentinogenesis Imperfecta Limited To Primary Teeth | |
| Dentinogenesis Imperfecta Without Osteogenesis Imperfecta | |
| Dentinogenic Ghost Cell Tumor | |
| Dentofacial Deformities | |
| Denys-Drash Syndrome | An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). |
| Deoxyguanosine Kinase Deficiency | |
| Dependent Personality Disorder | A personality disorder that is characterized by a pervasive psychological dependence on other people. |
| Depersonalization | |
| Depigmentation/Hyperpigmentation Of Skin | |
| Depletion Of Mitochondrial Dna | |
| Depressed Bipolar I Disorder | |
| Depression | A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. |
| Depression Anxiety Disorder | |
| Derangement Of Temporomandibular Joint | |
| Derealization | |
| Dermal Fibroma | |
| Dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| Dermatitis Herpetiformis, Familial | |
| Dermatofibrosarcoma | |
| Dermatofibrosis Lenticularis Disseminata | |
| Dermatofibrosis Lenticularis Disseminata, Isolated | |
| Dermatoglyphs - Skin Lines | |
| Dermatographic Urticaria | |
| Dermatomyofibroma | |
| Dermatomyositis | A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.|A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) |
| Dermatopathia Pigmentosa Reticularis | |
| Dermatopathic Lymphadenitis | |
| Dermatophilosis Due To Dermatophilus Congolensis | |
| Dermatophytosis | A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. |
| Dermatosis Papulosa Nigra | OMIM mapping confirmed by DO. [SN]. |
| Dermodistortive Urticaria | |
| Dermoid Choristoma Of Eye Proper | |
| Dermoid Cyst | |
| Dermoid Cyst Of Ovary | OMIM mapping confirmed by DO. [SN]. |
| Dermoids Of Cornea | |
| Desanto-Shinawi Syndrome | |
| Desbuquois Dysplasia | |
| Desbuquois Syndrome | Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. |
| Descemet'S Membrane Fold | |
| Descending Aortic Dissection | |
| Descending Perineum Syndrome | |
| Descending Thoracic Aortic Dissection | |
| Desmin Related Myopathy With Mallory Body-Like Inclusions | |
| Desmoid Disease, Hereditary | |
| Desmoid Tumor Caused By Somatic Mutation | |
| Desmoplastic | |
| Desmoplastic Ameloblastoma | |
| Desmoplastic Cerebral Astrocytoma Of Infancy | |
| Desmoplastic Fibroblastoma | |
| Desmoplastic Fibroma | |
| Desmoplastic Infantile Astrocytoma | |
| Desmoplastic Infantile Astrocytoma And Ganglioglioma | |
| Desmoplastic Infantile Ganglioglioma | |
| Desmoplastic Medulloblastoma | |
| Desmoplastic Melanoma | |
| Desmoplastic Mesothelioma | |
| Desmoplastic Neurotropic Melanoma | |
| Desmoplastic Small Round Cell Tumor | Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. |
| Desmoplastic Spindle And Epithelioid Cell Melanocytic Nevus Of Skin | |
| Desmoplastic Trichoepithelioma | |
| Desmosterolosis | Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol. |
| Desquamative Gingivitis | |
| Desquamative Interstitial Pneumonia | An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. |
| Destructive Arthritis | |
| Destructive Thyroiditis | |
| Detrusor And Sphincter Dyssynergia | |
| Deuteranomaly | |
| Deuteranopia | |
| Developmental Absence Of Tooth | |
| Developmental And Speech Delay Due To Sox5 Deficiency | |
| Developmental Arithmetic Disorder | |
| Developmental Coordination Disorder | A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. |
| Developmental Coxa Vara | |
| Developmental Delay | |
| Developmental Delay, Epilepsy, And Neonatal Diabetes | |
| Developmental Dysplasia Of The Hip 1 | |
| Developmental Failure Of Fusion | |
| Developmental Porencephaly | |
| Developmental Reading Disorder | |
| Developmental Regression | Loss of developmental skills, as manifested by loss of developmental milestones. |
| Developmental Syntactic Impairment | |
| Devil Facial Tumor Disease | |
| Dextrocardia | |
| Dextrocardia With Situs Inversus | |
| Dextrotransposition Of Aorta | |
| Dextrotransposition Of The Great Arteries | |
| Diabetes | |
| Diabetes (Mellitus) Due To Autoimmune Process | |
| Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction | |
| Diabetes Insipidus | |
| Diabetes Mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| Diagnosis For Colon | |
| Diagnosis, Psychiatric | |
| Dialysis Disequilibrium Syndrome | |
| Diaminoaciduria | |
| Diamond-Blackfan Anemia | A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. |
| Dianzani Autoimmune Lymphoproliferative Syndrome | |
| Diaphanospondylodysostosis | |
| Diaphragmatic Eventration | |
| Diaphragmatic Hernia | |
| Diaphyseal Dysplasia | |
| Diaphyseal Medullary Stenosis With Bone Malignancy | |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma | |
| Diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| Diarrhea Persistent | |
| Diastasis Recti | A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). |
| Diastasis, Bone | |
| Diastema Of Teeth | |
| Diastematomyelia | |
| Diastolic Hypertension | |
| Diastrophic Dysplasia | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. |
| Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant | |
| Dicarboxylicaminoaciduria | |
| Dicer1 Syndrome | |
| Dichromacy | |
| Dictyocaulus Infections | |
| Diencephalic Mesencephalic Junction Dysplasia | |
| Diencephalic Neoplasm | |
| Differentiated Thyroid Gland Carcinoma | |
| Differentiating Neuroblastoma | |
| Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia | |
| Difficulty Adjusting From Light To Dark | |
| Diffuse Alopecia | |
| Diffuse Alveolar Damage | |
| Diffuse Alveolar Hemorrhage | |
| Diffuse Astrocytoma | |
| Diffuse Astrocytoma, Idh-Wildtype | |
| Diffuse Cerebral Sclerosis Of Schilder | |
| Diffuse Cutaneous Leishmaniasis | |
| Diffuse Demyelination Of The Cerebral White Matter | A diffuse loss of myelin from nerve fibers in the central nervous system. |
| Diffuse Follicle Center Lymphoma | |
| Diffuse Glioma | |
| Diffuse Goiter | |
| Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia | |
| Diffuse Infiltrative Lymphocytosis Syndrome | A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. |
| Diffuse Intrinsic Pontine Glioma | |
| Diffuse Large B-Cell Lymphoma | Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.|A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma. |
| Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type | |
| Diffuse Large B-Cell Lymphoma Of Central Nervous System | |
| Diffuse Large B-Cell Lymphoma Recurrent | |
| Diffuse Large B-Cell Lymphoma Refractory | |
| Diffuse Leiomyomatosis | |
| Diffuse Leptomeningeal Glioneuronal Neoplasm | |
| Diffuse Leptomeningeal Melanocytosis | |
| Diffuse Malignant Mesothelioma | |
| Diffuse Melanocytosis | |
| Diffuse Mesangial Sclerosis (Disorder) | |
| Diffuse Midline Glioma, Point Mutation K27M In Histone H3 | |
| Diffuse Mixed-Cell Lymphoma | |
| Diffuse Neurofibroma | |
| Diffuse Nuclear Cataract | Opacity of the entire lens nucleus. |
| Diffuse Palmoplantar Hyperkeratosis | |
| Diffuse Palmoplantar Keratoderma With Painful Fissures | |
| Diffuse Palmoplantar Keratoderma, Bothnian Type | |
| Diffuse Panbronchiolitis | Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis |
| Diffuse Scleroderma | |
| Diffuse Skin Atrophy | |
| Diffuse White Matter Abnormalities | This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. |
| Digeorge Syndrome | A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. |
| Digestive Epilepsy | |
| Digestive System Neuroendocrine Carcinoma | |
| Digestive System Non-Hodgkin Lymphoma | |
| Digital Arthropathy-Brachydactyly, Familial | |
| Digital Dermatitis | |
| Digital Papillary Eccrine Carcinoma Of Skin | |
| Digital Ulcer | |
| Digitorenocerebral Syndrome | |
| Digitotalar Dysmorphism | |
| Dihydropyrimidinase Deficiency | |
| Dihydropyrimidine Dehydrogenase Deficiency | A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. |
| Dihydropyrimidinuria | Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. |
| Dilatation Of Pulmonary Artery, Unspecified | |
| Dilatation Of The Vestibular Aqueduct | |
| Dilatation Of Ureter | |
| Dilated Cardiomyopathy Secondary To Metabolic Disorder | |
| Dilated Cardiomyopathy Secondary To Viral Myocarditis | |
| Dilated Left Ventricle | |
| Dilated Vestibule Of The Inner Ear | Dilatation of the vestibule of the inner ear. |
| Dilation Of The Thoracic Aorta | |
| Dimelia | |
| Dimethylglycine Dehydrogenase Deficiency | Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. |
| Diminished Ovarian Reserve | |
| Diphtheria | A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. |
| Diplegia | |
| Diplegic Infantile Cerebral Palsy | |
| Diplopia, Vertical | |
| Dipsogenic Diabetes Insipidus | |
| Direct Contact Transmission Infection | |
| Direct Extension | |
| Dirofilariasis | A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. |
| Disabling Disease | |
| Disaccharidase Deficiency | |
| Disc Disorder | |
| Discitis | |
| Discogenic Pain | |
| Discordant Ventriculoarterial Connection | |
| Disease Caused By Shigella Boydii | |
| Disease Caused By Shigella Dysenteriae | |
| Disease Caused By Shigella Sonnei | |
| Disease Due To Acanthocephala | |
| Disease Due To Neisseria | |
| Disease Due To Parvoviridae | |
| Disk, Herniated | |
| Disorder Characterized By Fever | |
| Disorder Of Achilles Tendon | |
| Disorder Of Chorion | |
| Disorder Of Ejaculation | |
| Disorder Of Electrolytes | |
| Disorder Of Galactose Metabolism | |
| Disorder Of Pericardium | |
| Disorder Of Vitamin B12 | |
| Disorders Of Both Mitral And Tricuspid Valves | |
| Disorganized Thinking | |
| Displaced Uterus | |
| Displacement Of The External Urethral Meatus | A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). |
| Disruptive Behavior Disorder | |
| Disruptive Mood Dysregulation Disorder | |
| Dissecting Abdominal Aortic Aneurysm | |
| Dissecting Aneurysm Of The Thoracic Aorta | |
| Dissecting Aortic Aneurysm | |
| Dissection Of Aorta | |
| Dissection Of Carotid Artery | |
| Dissection Of Coronary Artery | |
| Dissection Of Iliac Artery | |
| Dissection Of Proximal Aorta | |
| Dissection Of Renal Artery | |
| Disseminated Bacillus Calmette-Guerin Infection | |
| Disseminated Bcg | |
| Disseminated Carcinoma | |
| Disseminated Coccidioidomycosis | |
| Disseminated Cryptococcosis | |
| Disseminated Cryptosporidium Infection | |
| Disseminated Due To Other Mycobacteria | |
| Disseminated Eosinophilic Collagen Disease | |
| Disseminated Fusariosis | |
| Disseminated Infection Caused By Neisseria Gonorrhoeae | |
| Disseminated Intravascular Coagulation | |
| Disseminated Juvenile Xanthogranuloma | |
| Disseminated Leishmaniasis | |
| Disseminated Mycobacteriosis | |
| Disseminated Mycobacterium Avium Complex Infection | |
| Disseminated Mycobacterium Kansasii Infection | |
| Disseminated Neuroblastoma | |
| Disseminated Nocardiosis | |
| Disseminated Phaeohyphomycosis | |
| Disseminated Squamous Cell Carcinoma | |
| Disseminated Viral Infection | |
| Dissociated Nystagmus | |
| Dissociation | |
| Dissociative Identity Disorder | |
| Distal 17P13.3 Microdeletion Syndrome | |
| Distal Amyotrophy | Muscular atrophy affecting muscles in the distal portions of the extremities. |
| Distal Aortic Dissection | |
| Distal Arthrogryposis Syndrome | |
| Distal Arthrogryposis Type 5D | |
| Distal Bile Duct Cancer | |
| Distal Bile Duct Carcinoma | |
| Distal Colitis | |
| Distal Hereditary Motor Neuropathy | OMIM mapping confirmed by DO. [SN]. |
| Distal Ileal Obstruction Syndrome | |
| Distal Intestinal Obstruction Syndrome | |
| Distal Lower Limb Amyotrophy | Muscular atrophy of distal leg muscles. |
| Distal Monosomy 12P | |
| Distal Monosomy 13Q Syndrome | |
| Distal Monosomy 1Q | |
| Distal Monosomy 3P Syndrome | |
| Distal Myopathy 1 | |
| Distal Peripheral Sensory Neuropathy | Peripheral sensory neuropathy affecting primarily distal sensation. |
| Distal Renal Tubular Acidosis | A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. |
| Distal Spinal Muscular Atrophy | |
| Distal Tapering Femur | |
| Distal Tapering Of Metatarsals | |
| Distal Tibial Bowing | A bending or abnormal curvature of the distal portion of the tibia. |
| Distal Trisomy 10Q Syndrome | |
| Distal Upper Limb Amyotrophy | Muscular atrophy of distal arm muscles. |
| Distal Urethral Duplication | |
| Distal-Type Epithelioid Sarcoma | |
| Distemper | |
| Distended Bowel | |
| Distichiasis | Double rows of eyelashes. |
| Distorted Body Image | |
| Disturbance In Mood | |
| Disuse Osteoporosis | |
| Diversion Colitis | |
| Diverticular Bleeding | |
| Diverticular Disease Of Colon | |
| Diverticulitis | |
| Diverticulosis | |
| Diverticulosis Of The Duodenum | |
| Diverticulum Of Renal Calyx | |
| Divided Left Atrium | |
| Dmac | |
| Dmd-Associated Dilated Cardiomyopathy | |
| Dna Ligase I Deficiency | |
| Dock8 Deficiency | |
| Dominant Beta-Thalassemia | |
| Dominant Drusen | |
| Dominant Dystrophic Epidermolysis Bullosa, Albopapular Type (Disorder) | |
| Dominant Hereditary Optic Atrophy | |
| Dominant Sensorineural Hearing Loss | |
| Dominant Thalassemia | |
| Dominantly Inherited Sensory Neuropathy | |
| Donnai-Barrow Syndrome | Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms). |
| Donohue Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Dopa-Responsive Dystonia | |
| Dopamine Beta Hydroxylase Deficiency | |
| Dosage-Sensitive Sex Reversal | |
| Double Coronary Vessel Disease | |
| Double Cortex | |
| Double Expressor Lymphoma | |
| Double Inlet Left Ventricle | |
| Double Kidney (Disorder) | |
| Double Outlet Left Ventricle | |
| Double Outlet Right Ventricle | OMIM mapping confirmed by DO. [SN]. |
| Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis | |
| Double Structure | |
| Double Ureter | |
| Double-Hit Lymphoma | |
| Doughnut Lesions Of Skull, Familial | |
| Dowling-Degos Disease | A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. |
| Dowling-Degos Disease 1 | |
| Down Syndrome | A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. |
| Down Syndrome Critical Region | |
| Downling-Degos Disease | |
| Doyne Honeycomb Retinal Dystrophy | |
| Dream Enactment Behavior | |
| Drinking Behavior Processes | |
| Dropped Head Syndrome | |
| Drug Abuse Or Dependence | |
| Drug Exanthem | |
| Drug Hypersensitivity Syndrome | |
| Drug Metabolism, Altered, Cyp2C8-Related | |
| Drug Overdose | |
| Drug Pseudoallergy | |
| Drug Resistant Epilepsy | |
| Drug Substitution (Abuse) | |
| Drug Withdrawal Syndrome | |
| Drug-Induced Acute Liver Injury | |
| Drug-Induced Depressive State | |
| Drug-Induced Erythema Multiforme | |
| Drug-Induced Hemolytic Anemia | |
| Drug-Induced Hyperprolactinemia | |
| Drug-Induced Immune Hemolytic Anemia | |
| Drug-Induced Immune Thrombocytopenia | |
| Drug-Induced Nephropathy | |
| Drug-Induced Neutropenia | |
| Drug-Induced Panniculitis | |
| Drug-Induced Paranoid State | |
| Drug-Induced Pneumonitis | |
| Drug-Induced Stevens Johnson Syndrome | |
| Drug-Induced Tardive Dyskinesia | |
| Drusen | Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. |
| Drusen, Radial, Autosomal Dominant | |
| Dry Eye Syndromes | |
| Ds Stage I Plasma Cell Myeloma | |
| Duane Retraction Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Duane Retraction Syndrome 3 | |
| Duane Retraction Syndrome 3 With Or Without Deafness | |
| Duane'S Syndrome | |
| Dubowitz Syndrome | A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. |
| Duchenne And Becker Muscular Dystrophy | |
| Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave | |
| Duchenne Or Becker Muscular Dystrophy | |
| Duck Viral Enteritis | |
| Ductal Carcinoma | |
| Ductal Plate Malformation | |
| Dumbbell-Shaped Femur | The femur is shortened and displays flaring (widening) of the metaphyses. |
| Duodenal Atresia | A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. |
| Duodenal Cancer | |
| Duodenal Perforation | |
| Duodenal Polyposis | Presence of multiple polyps in the duodenum. |
| Duodenal Ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| Duodenal Ulcer Caused By Helicobacter Pylori | |
| Duodenal Ulcer Perforation | |
| Duodenal Villous Adenoma | |
| Duodenal-Type Follicular Lymphoma | |
| Duodenitis | |
| Duplicated Collecting System | A duplication of the collecting system of the kidney. |
| Duplication 15Q11-Q13 Syndrome | |
| Duplication Of Internal Organs | |
| Duplication Of The Proximal Phalanx Of The Hallux | Partial or complete duplication of the proximal phalanx of big toe. |
| Duplication Of Thumb Phalanx | Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. |
| Dupuytren Contracture | An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. |
| Dupuytren'S Disease | disease cluster belonging to disease group other |
| Dural Arteriovenous Fistula | |
| Dursun Syndrome | |
| Dwarfism | |
| Dwarfism Tall Vertebrae | |
| Dyggve-Melchio-Clausen Syndrome | |
| Dyggve-Melchior-Clausen Syndrome | |
| Dysalbuminemic Hyperthyroxinemia | |
| Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| Dysarthrophonia | |
| Dysautonomia | Dysfunction of the autonomic nervous system. |
| Dysautonomia, Familial | |
| Dyscalculia | A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. |
| Dyschromatopsia | A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. |
| Dyschromatosis | |
| Dyschromatosis Universalis Hereditaria 3 | |
| Dysembryoplastic Neuroepithelial Tumor | |
| Dysenteric Diarrhea | |
| Dysentery | An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. |
| Dysentery, Bacillary | |
| Dysequilibrium Syndrome | |
| Dyserythropoietic Anemia With Thrombocytopenia | |
| Dysexecutive Syndrome | |
| Dysferlinopathy | |
| Dysfibrinogenemia | Qualitatively abnormal fibrinogen. |
| Dysfunction Adrenal | |
| Dysgammaglobulinemia | A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. |
| Dysganglionosis | |
| Dysgenesis Of Corpus Callosum | |
| Dysgenesis Of The Basal Ganglia | |
| Dysgenesis Of The Cerebellar Vermis | Defective development of the vermis of cerebellum. |
| Dysgenesis Of The Hippocampus | |
| Dysgerminoma | A germ cell cancer that derives_from cells that give rise to egg cells. |
| Dysgerminoma Of Ovary | A dysgerminoma that is located_in the ovary. |
| Dysglycemia | |
| Dysgnathia | |
| Dysgnathia Complex | |
| Dysgraphia | A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. |
| Dyshormonogenic Goiter | |
| Dyskeratosis Congenita | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
| Dyskeratosis Congenita, Autosomal Recessive | |
| Dyskinesia | A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. |
| Dyskinesia, Drug-Induced | |
| Dyskinesia, Familial, With Facial Myokymia | |
| Dyskinesias, Paroxysmal | |
| Dyskinetic Syndrome | |
| Dyslalia | |
| Dyslexia | |
| Dysmetabolic Syndrome | |
| Dysmorphic Features | |
| Dysmorphism | |
| Dysosmia | |
| Dysosteosclerosis | |
| Dysostoses | |
| Dyspareunia (Female) | |
| Dysphagia, Progressive | |
| Dysphasia | |
| Dysphoric Mood | |
| Dysplasia Epiphysealis Hemimelica | |
| Dysplasia Of Anus | |
| Dysplasia Of Colon | |
| Dysplasia Of Larynx | |
| Dysplastic Distal Thumb Phalanges With A Central Hole | |
| Dysplastic Erythropoesis | |
| Dysplastic Gangliocytoma Of Cerebellum (Lhermitte-Duclos) | |
| Dysplastic Granulopoesis | |
| Dysplastic Nevus | |
| Dysplastic Nevus Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Dysplastic Nodule | |
| Dysplastic Oral Leukoplakia | |
| Dysplastic Tricuspid Valve | |
| Dyspnea, Paroxysmal | |
| Dysproteinemia | |
| Dyssegmental Dysplasia | |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type | |
| Dyssomnias | |
| Dysspondyloenchondromatosis | |
| Dysthymic Disorder | A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. |
| Dystonia | |
| Dystopia Canthorum | |
| Dystransthyretinemic Euthyroidal Hyperthyroxinemia | |
| Dystrophia | |
| Dystrophic Cardiomyopathy | |
| Dystrophy Of Vulva | |
| Dystrophy, Granular | |
| Eales Disease | |
| Ear Inflammation | local accumulation of fluid, plasma proteins and leukocytes in the ear |
| Ear Wax, Wet/Dry | |
| Ear, Patella, Short Stature Syndrome | |
| Early Childhood Caries | |
| Early Childhood Epilepsy, Myoclonic | |
| Early Cirrhosis | |
| Early Disseminated Lyme Disease | |
| Early Gastric Cancer | |
| Early Hepatocellular Carcinoma | |
| Early Infantile Epileptic Encephalopathy With Suppression Bursts | |
| Early Infantile Epileptic Encephalopathy, Refractory | |
| Early Inflammatory Arthritis | |
| Early Myoclonic Encephalopathy | |
| Early Onset Periodontitis | disease cluster belonging to disease group immune |
| Early Onset Psoriasis Type 1 | |
| Early Onset Schizophrenia | |
| Early Onset Torsion Dystonia | |
| Early Radiation Dermatitis | |
| Early Repolarization Associated With Ventricular Fibrillation | |
| Early Rheumatoid Arthritis | |
| Early Syphilis, Unspecified | |
| Early T Acute Lymphoblastic Leukemia | |
| Early-Onset Glaucoma | |
| Early-Onset Lafora Body Disease | |
| Early-Stage Breast Carcinoma | |
| East Coast Fever | |
| East Texas Bleeding Disorder | |
| Eating Epilepsy | |
| Ebstein Anomaly | A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. |
| Ebv Viremia | |
| Ebv-Related Hodgkin Lymphoma | |
| Ebv-Related Lymphoma | |
| Ebv-Related Malignant Neoplasm | |
| Eccrine Acrospiroma | |
| Eccrine Dermal Cylindroma | |
| Eccrine Ductal Carcinoma | |
| Eccrine Epithelioma | |
| Eccrine Mixed Tumor Of Skin | |
| Eccrine Nevus | |
| Eccrine Papillary Adenocarcinoma | |
| Eccrine Papillary Adenoma | |
| Eccrine Porocarcinoma | |
| Eccrine Poroma | |
| Eccrine Spiradenoma | |
| Echinococcosis | A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. |
| Echogenic Bowel | |
| Echovirus Enteritis | |
| Eclampsia | A pre-eclampsia characterized by the presence of seizures. |
| Ecstasy Related Disorders | |
| Ecthyma | |
| Ectodermal Dysplasia | Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. |
| Ectomesenchymal Chondromyxoid Tumor | |
| Ectopia Lentis | Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. |
| Ectopic Accessory Finger-Like Appendage | |
| Ectopic Adrenal Gland | Abnormal anatomical location of the adrenal gland. |
| Ectopic Anterior Pituitary Gland | |
| Ectopic Anus | Abnormal displacement or malposition of the anus. |
| Ectopic Gastric Tissue | |
| Ectopic Kidney | A developmental defect in which a kidney is located in an abnormal anatomic position. |
| Ectopic Liver | |
| Ectopic Ossification | Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. |
| Ectopic Pancreas | |
| Ectopic Parathyroid Adenoma | |
| Ectopic Pituitary Adenoma | |
| Ectopic Posterior Pituitary Gland | |
| Ectopic Pupil | |
| Ectopic Spleen | |
| Ectopic Thymus | |
| Ectopic Tooth | |
| Ectrodactyly | A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. |
| Ectromelia | |
| Ectropion | |
| Eculizumab, Poor Response To | |
| Eczema | |
| Edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Edict Syndrome | |
| Edpidermolysis Bullosa | |
| Eds Viib | |
| Egg Drop Syndrome | |
| Eggshell Calcium Deposition | |
| Ehlers-Danlos Syndrome | A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
| Ehrlichiosis | A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. |
| Ehrlichiosis Chafeensis (Diagnosis) | |
| Eichsfeld Type Congenital Muscular Dystrophy | |
| Eiken Skeletal Dysplasia | |
| Eisenmenger Complex | |
| Elastofibroma | |
| Elastosis Perforans Serpiginosa | |
| Elbow Hypertrichosis | |
| Electron Transport Chain Deficiencies, Mitochondrial | |
| Elejalde Disease | |
| Elephantiasis | |
| Elliptocytosis | hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape |
| Ellis-Van Creveld Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Elongated Radius | Increased length of the radius. |
| Emanuel Syndrome | Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities. |
| Emberger Syndrome | |
| Embolic Stroke | |
| Embolic Stroke Of Undetermined Source | |
| Embolism | |
| Embryonal Carcinoma | An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. |
| Embryonal Cell Carcinoma | |
| Embryonal Neoplasm | |
| Embryonal Nuclear Cataract (Disorder) | |
| Embryonal Rhabdomyosarcoma | A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)|A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic. |
| Embryonic Cyst | |
| Embryopathies | |
| Emery-Dreifuss Muscular Dystrophy | A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. |
| Emotional Disorder | |
| Emotional Dysfunction | |
| Emotional Impulsivity | |
| Emotional Neglect | |
| Emotional Trauma | |
| Emphysema Or Copd | |
| Emphysematous Pyelonephritis | |
| Empty Follicle Syndrome | |
| Empty Sella Syndrome | |
| Empyema | An accumulation of pus, usually in a body cavity |
| Encapsulated Thymoma | |
| Encapsulating Peritoneal Sclerosis | |
| Encapsulation Reaction | |
| Encephalitis | Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. |
| Encephalitis Caused By Tick-Borne Encephalitis Virus | |
| Encephalitis Lethargica | |
| Encephalitis, Polio | |
| Encephalitis, St. Louis | |
| Encephalitis, West Nile Fever | |
| Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization | |
| Encephalitozoonosis | A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. |
| Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency | |
| Encephalocele | A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. |
| Encephaloclastic Proliferative Vasculopathy | |
| Encephalocraniocutaneous Lipomatosis | |
| Encephalomalacia | |
| Encephalomyelitis | A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature. |
| Encephalomyelitis, Acute Disseminated | |
| Encephalomyelitis, Eastern Equine | |
| Encephalomyelopathy | |
| Encephalopathy | |
| Enchondroma | A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. |
| Enchondromatosis | |
| End Stage Cardiac Failure | |
| End Stage Copd | |
| End Stage Liver Disease | |
| End Stage Lung Disease | |
| End Stage Parkinson'S Disease | |
| End Stage Renal Disease Due To Hypertension | |
| Endemic Cretinism | |
| Endemic Goiter | |
| Endemic Osteoarthritis | |
| Endemic Tyrolean Infantile Cirrhosis | |
| Endocapillary Glomerulonephritis | |
| Endocardial Fibroelastosis | An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. |
| Endocarditis | A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart).|Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening.|Inflammation of the endocardium. |
| Endocarditis Enterococcal | |
| Endocervical Adenocarcinoma | |
| Endocervical Adenocarcinoma In Situ | |
| Endocervical Adenocarcinoma, Usual Type | |
| Endocervical Carcinoma | |
| Endocervical Polyp | |
| Endocervicitis | |
| Endocrine Carcinoma | |
| Endocrine Hypertension | |
| Endocrine-Cerebro-Osteodysplasia Syndrome | |
| Endocrine-Cerebroosteodysplasia | |
| Endodermal Sinus Tumor Of Ovary | |
| Endogenous Depression | A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. |
| Endogenous Endophthalmitis | |
| Endogenous Hyperinsulinism | |
| Endolymphatic Hydrops | |
| Endolymphatic Sac Tumor | |
| Endometrial Adenoacanthoma | |
| Endometrial Adenocarcinoma | An endometrial carcinoma that derives_from epithelial cells of glandular origin. |
| Endometrial Cancer | A uterine cancer that is located_in tissues lining the uterus. |
| Endometrial Carcinoma | A endometrial cancer that is located_in the tissue lining the uterus. |
| Endometrial Carcinosarcoma | |
| Endometrial Clear Cell Adenocarcinoma | |
| Endometrial Cyst | |
| Endometrial Cystic Hyperplasia | |
| Endometrial Endometrioid Adenocarcinoma | |
| Endometrial Hyperplasia | |
| Endometrial Intraepithelial Neoplasia | |
| Endometrial Neoplasm | Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells. |
| Endometrial Polyp | |
| Endometrial Polyp Benign | |
| Endometrial Sarcoma | |
| Endometrial Small Cell Carcinoma | |
| Endometrial Squamous Cell Carcinoma | |
| Endometrial Stromal Nodule | |
| Endometrial Stromal Sarcoma | |
| Endometrial Stromal Sarcoma, High Grade | |
| Endometrial Stromal Tumors | |
| Endometrial Undifferentiated Carcinoma | |
| Endometrioid Adenocarcinoma Metastatic | |
| Endometrioid Adenoma | |
| Endometrioid Adenoma, Borderline Malignancy | |
| Endometrioid Carcinoma Of Prostate | |
| Endometrioid Carcinoma Ovary | |
| Endometrioid Intraepithelial Neoplasia | |
| Endometrioid Tumor | |
| Endometrioma | |
| Endometriosis | The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. |
| Endometritis | |
| Endophthalmitis | A globe disease that is characterized by inflammation of the inside of the eye. |
| Endosalpingiosis | |
| Endotoxin Hyporesponsiveness | |
| Endplate Acetylcholinesterase Deficiency (Disorder) | |
| Engraftment Syndrome | |
| Enhanced S-Cone Syndrome | |
| Enlarged Epiphyses | Increased size of epiphyses. |
| Enlarged Polycystic Ovaries | |
| Enlarged Vertebral Pedicles | Increased size of the vertebral pedicle. |
| Enlargement Of Tonsil Or Adenoid | |
| Entamoeba Histolytica Infection | |
| Entamoebiasis | |
| Enteric Campylobacteriosis | |
| Enteric Coccidiosis | |
| Enteritis | |
| Enterobiasis | A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. |
| Enterochromaffin Cell Hyperplasia | |
| Enterochromaffin-Like Cell Carcinoid | |
| Enterococcal Infection | |
| Enterocolitis | An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). |
| Enterocutaneous Fistula | |
| Enterokinase Deficiency | |
| Enteropathogenic Escherichia Coli Gastrointestinal Tract Infection | |
| Enteropathy-Associated T-Cell Lymphoma | |
| Enterostomy (Morphologic Abnormality) | |
| Enterotoxemia | |
| Enterotoxigenic Escherichia Coli Gastrointestinal Tract Infection | |
| Enteroviral Dermatomyositis Syndrome | |
| Enteroviral Encephalitis | |
| Enteroviral Hepatitis | |
| Enterovirus 71 Infection | |
| Enterovirus D68 Infection | |
| Enterovirus Meningitis | |
| Enterovirus Myocarditis | |
| Enthesitis | |
| Enthesitis-Related Arthritis | |
| Enthesopathy | |
| Entropion | |
| Environment-Related Malignant Neoplasm | |
| Environmental Sleep Disorder | |
| Eosinopenia | |
| Eosinophilia | |
| Eosinophilic Syndrome | |
| Ependymoblastoma | |
| Ependymoma | The presence of an ependymoma of the central nervous system. |
| Eperythrozoonosis | |
| Epidemic Diarrhea | |
| Epidemic Gastroenteritis | |
| Epidemic Keratoconjunctivitis | |
| Epidemic Polyarthritis | |
| Epidermal Differentiation Complex | |
| Epidermal Growth Factor Receptor Negative Non-Small Cell Lung Cancer | |
| Epidermal Growth Factor Receptor Positive Non-Small Cell Lung Cancer | |
| Epidermal Necrosis | morphological changes resulting from pathological death of the epidermal layer of skin; usually due to irreversible damage |
| Epidermal Nevus With Urothelial Cancer, Somatic | |
| Epidermodysplasia Verruciformis | An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. |
| Epidermolysis Bullosa | |
| Epidermolytic Palmoplantear Keratoderma | |
| Epididymal Adenocarcinoma | |
| Epididymitis | |
| Epididymo-Orchitis | |
| Epidural Abscess | Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine. |
| Epidural Abscess, Spinal | |
| Epiduritis | |
| Epigenetic Disorder | |
| Epiglottitis | An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. |
| Epilepsy | A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures |
| Epilepsy And Migraine | |
| Epileptic Drop Attack | |
| Epileptic Encephalopathy | |
| Epileptic Syndromes | |
| Epiphyseal Chondrodysplasia, Miura Type | |
| Epiphyseal Dysplasia | |
| Epiphyseal Dysplasia, Multiple, With Myopathy | |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness | |
| Epiphyses, Slipped | |
| Epiphysitis | |
| Epiretinal Membrane | An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. |
| Episcleritis | Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. |
| Episodic Ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| Episodic Cluster Headache | |
| Episodic Generalized Hypotonia | |
| Episodic Kinesigenic Dyskinesia | |
| Episodic Pain Syndrome | |
| Episodic Paroxysmal Anxiety | |
| Episodic Quadriplegia | Intermittent episodes of paralysis of all four limbs. |
| Episodic Tension-Type Headache | |
| Epispadias, Male (Disorder) | |
| Epithelial Basement Membrane Dystrophy | |
| Epithelial Hyperplasia | |
| Epithelial Hyperplasia Of Skin | |
| Epithelial Inclusion Cyst | |
| Epithelial Ovarian Cancer | disease cluster belonging to disease group cancer |
| Epithelial Recurrent Erosion Dystrophy | |
| Epithelial Tumor Of Ovary | |
| Epithelial-Myoepithelial Carcinoma | |
| Epithelioid And Spindle Cell Nevus | |
| Epithelioid Angiomyolipoma | |
| Epithelioid Cell Intraocular Melanoma | |
| Epithelioid Cell Melanoma | |
| Epithelioid Glioblastoma | |
| Epithelioid Hemangioendothelioma | |
| Epithelioid Hemangioma Of Skin | |
| Epithelioid Malignant Peripheral Nerve Sheath Tumor | |
| Epithelioid Mesothelioma, Malignant | |
| Epithelioid Sarcoma Non-Metastatic | |
| Epithelioma | |
| Epstein Syndrome (Disorder) | |
| Epstein-Barr Virus | disease cluster belonging to disease group immune |
| Equinus Deformity | |
| Erdheim-Chester Disease | |
| Erectile Abnormalities | |
| Erectile Dysfunction | |
| Erosive Arthritis | |
| Erosive Esophagitis | |
| Erosive Gastroduodenitis | |
| Erosive Oral Lichen Planus | |
| Erosive Osteoarthrosis | |
| Eruptive Melanocytic Nevi | |
| Eruptive Xanthoma | |
| Erysipelas | |
| Erysipelothrix Infection | |
| Erythema | Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. |
| Erythroblastosis | presence of erythroblasts in great number in the blood |
| Erythrocyte Amp Deaminase Deficiency | |
| Erythrocyte Lactate Transporter Defect | |
| Erythrocytosis | |
| Erythroderma | An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. |
| Erythroid Hyperplasia | Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. |
| Erythroid Hypoplasia | Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. |
| Erythrokeratoderma | |
| Erythrokeratoderma, Reticular | |
| Erythrokeratodermia Variabilis | OMIM mapping confirmed by DO. [SN]. |
| Erythrokeratodermia With Ataxia | |
| Erythroleukemia (Erythroid/Myeloid) | |
| Erythromelalgia | |
| Erythrophagocytosis | |
| Erythroplakia Of Mouth | |
| Erythroplasia | |
| Erythropoietic Protoporphyria | An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. |
| Erythropoietin-Resistant Anemia | |
| Escherichia Bacteraemia | |
| Escherichia Coli Septicemia | |
| Esodeviation | |
| Esophageal Achalasia | |
| Esophageal Adenosquamous Carcinoma | An esophageal carcinoma that derives_from squamous cells and gland-like cells. |
| Esophageal And Gastric Varices | |
| Esophageal Atresia | |
| Esophageal Atresia With Or Without Tracheoesophageal Fistula | |
| Esophageal Atresia With Tracheoesophageal Fistula (Disorder) | |
| Esophageal Basaloid Carcinoma | |
| Esophageal Carcinoma | Tumors or cancer of the ESOPHAGUS. |
| Esophageal Dysphagia | |
| Esophageal Dysplasia | |
| Esophageal Erosions | |
| Esophageal Fistula | |
| Esophageal Gastrointestinal Stromal Tumor | |
| Esophageal High Grade Intraepithelial Neoplasia | |
| Esophageal Intestinal Metaplasia | |
| Esophageal Liposarcoma | |
| Esophageal Melanoma | |
| Esophageal Neuroendocrine Carcinoma | |
| Esophageal Spasm | |
| Esophageal Spindle Cell Carcinoma | |
| Esophageal Squamous Intraepithelial Neoplasia | |
| Esophageal Stenosis | An abnormal narrowing of the lumen of the esophagus. |
| Esophageal Stricture | A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. |
| Esophageal Varices | |
| Esophagitis | |
| Esophagitis, Eosinophilic, 1 | |
| Esophoria | |
| Esotropia | Esotropia is a strabismus in which the eye turns inward toward the nose. |
| Essential Hypertension | A hypertension with no known cause. It is the most common type of hypertension. |
| Essential Mixed Cryoglobulinemia | |
| Essential Thrombocytopenia | |
| Essential Tremor | A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. |
| Estren-Dameshek Variant Of Fanconi Anemia | |
| Estren-Dameshek Variant Of Fanconi Pancytopenia | |
| Estrogen Receptor Positive Tumor | |
| Estrogen Receptor-Negative Breast Cancer | |
| Estrogen Resistance | |
| Etat Marbre | |
| Ethiopian Cutaneous Leishmaniasis | |
| Ethmoid Sinus Adenocarcinoma | An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. |
| Ethylmalonic Encephalopathy | |
| Euglycaemic Diabetic Ketoacidosis | |
| Eumycetoma | |
| Eunuchoidism, Familial Hypogonadotropic | |
| Euthymia | |
| Euthymic Mood | |
| Euthyroid Condition | |
| Euthyroid Goiter | A goiter that is not associated with functional thyroid abnormalities. |
| Euthyroid Multinodular Goiter | |
| Euthyroid Sick Syndromes | |
| Evans Syndrome | |
| Even-Plus Syndrome | |
| Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | |
| Ewing'S Sarcoma Of Bone | |
| Ewing'S Sarcoma Recurrent | |
| Ewing-Like Sarcoma | |
| Ewings Sarcoma | |
| Ewings Sarcoma-Primitive Neuroectodermal Tumor (Pnet) | |
| Exacerbation Of Allergic Asthma | |
| Exacerbation Of Idiopathic Pulmonary Fibrosis | |
| Exacerbation Of Multiple Sclerosis | |
| Exaggerated Placental Site | |
| Exanthema | |
| Excessive Tearing | |
| Executive Dysfunction | |
| Exencephaly | neurocranial defects resulting in exposure or extrusion of the brain |
| Exercise Anaphylaxis | |
| Exercise Intolerance | |
| Exercise-Induced Hemolysis | A form of hemolytic anemia that can be triggered by exertion. |
| Exercise-Induced Hyperinsulinism | |
| Exercise-Induced Lactic Acidemia | A form of lactic acidemia that occurs following exercise or exertion. |
| Exertional Rhabdomyolysis (Disorder) | |
| Exfoliation Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Exfoliative Dermatitis | |
| Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like | |
| Exocrine Pancreatic Insufficiency | |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis | |
| Exodeviation | |
| Exogenous Hyperinsulinism | |
| Exophoria | |
| Exophthalmos | An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. |
| Exostoses, Multiple, Type Ii | |
| Exostosis Of External Ear Canal | |
| Exotropia | |
| Experimental Autoimmune Encephalomyelitis | An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5) |
| Experimental Hepatoma | |
| Experimental Lung Inflammation | |
| Experimental Organism Benign Basalioma | |
| Experimental Organism Benign Keratoacanthoma | |
| Experimental Organism Malignant Hepatocholangiocellular Carcinoma | |
| Explosive Personality Disorder | |
| Exposure Keratoconjunctivitis | |
| Exstrophy | Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. |
| Extended Oligoarticular Juvenile Idiopathic Arthritis | |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus | |
| External Carotid Artery Stenosis | |
| External Carotid Artery Thrombosis | |
| External Exotoses | |
| External Hydrocephalus | |
| External Ophthalmoplegia | Paralysis of the external ocular muscles. |
| External Resorption Of Tooth | |
| Extra-Abdominal Fibromatosis | |
| Extra-Adrenal Paraganglioma | |
| Extra-Osseous Ewing'S Sarcoma | |
| Extracavitary Primary Effusion Lymphoma | |
| Extracranial Solid Neoplasm | |
| Extragastrointestinal Gastrointestinal Stromal Tumor | |
| Extragenital Endometriosis | |
| Extragonadal Germ Cell Tumor | |
| Extragonadal Seminoma | |
| Extrahepatic Cholangiocarcinoma | |
| Extramedullary Hematopoiesis | The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. |
| Extramedullary Myeloma | |
| Extramedullary Plasmacytoma | |
| Extranodal Lymphoma | |
| Extranodal Marginal Zone Lymphoma | |
| Extraocular Muscle Paresis | |
| Extraocular Retinoblastoma | A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. |
| Extraoral Halitosis Due To Methanethiol Oxidase Deficiency | |
| Extraovarian Endometriosis | |
| Extrapulmonary Small Cell Carcinoma | |
| Extrapyramidal Dyskinesia | |
| Extrarenal Rhabdoid Tumor | |
| Extraskeletal Myxoid Chondrosarcoma | An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. |
| Extraskeletal Osteosarcoma | |
| Extravascular Hemolysis | |
| Extraventricular Neurocytoma | |
| Exudative Age-Related Macular Degeneration | |
| Exudative Diathesis | |
| Exudative Edema | |
| Exudative Macular Degeneration | |
| Exudative Otitis Media | |
| Exudative Pleural Effusion | |
| Exudative Retinopathy | |
| Exudative Vitreoretinopathy | A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. |
| Exudative Vitreoretionpathy | |
| Eye Disorder Due To Diabetes Mellitus | |
| Eye Poking | Repetitive pressing, poking, and/or rubbing in the eyes. |
| Eyelid Myoclonias | |
| Eyelid Sebaceous Gland Carcinoma | |
| Eyelid Xanthoma | |
| Eyes Dry Chronic | |
| Fabry Disease | OMIM mapping confirmed by DO. [SN]. |
| Facet Joint Arthrosis | |
| Facet Joint Degeneration | |
| Facial Dermatoses | |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature | |
| Facial Edema | |
| Facial Hemiatrophy | OMIM mapping confirmed by DO. [SN]. |
| Facial Midline Hemangioma | |
| Facial Neuritis | |
| Facial Onset Sensory And Motor Neuronopathy Syndrome | |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction | |
| Facial Paralysis | |
| Facial Paresis, Hereditary Congenital, 3 | |
| Facial Paresis, Hereditary, Congenital | |
| Facial Wart | |
| Facioscapulohumeral Muscular Dystrophy 1A | |
| Facioscapulohumeral Muscular Dystrophy 1B | |
| Factitious Hypoglycemia | |
| Factor 8 Deficiency, Acquired | |
| Factor I Deficiency Disease | |
| Factor Ii Deficiency | |
| Factor Ii Deficiency Disease | |
| Factor Ii Mutation | |
| Factor Ix Deficiency Disease | |
| Factor V And Factor Viii, Combined Deficiency Of | |
| Factor V Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Factor V Leiden Mutation | |
| Factor Vii Deficiency | |
| Factor Viii Deficiency | An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| Factor Viii Deficiency Disease | |
| Factor Viii Inactivation | |
| Factor X Deficiency | |
| Factor X Deficiency Disease | |
| Factor Xi Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Factor Xii Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Factor Xii Deficiency Disease | |
| Factor Xiii Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Fahr'S Syndrome (Disorder) | |
| Failed Back Surgery Syndrome | |
| Failure Of Eruption Of Permanent Teeth | Lack of tooth eruption of the secondary dentition. |
| Failure Of Tooth Eruption | inability of the teeth to grow into the oral cavity |
| Failure Of Tooth Eruption, Primary | |
| Failure To Thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| Failure To Thrive In Infant | |
| Fallopian Tube Adenocarcinoma | A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. |
| Fallopian Tube Cancer | A female reproductive organ cancer that is located_in fallopian tube. |
| Fallopian Tube Carcinoma | A fallopian tube cancer that is located_in the fallopian tube. |
| Fallopian Tube Gestational Choriocarcinoma | |
| Falsification | |
| Familial (Fpah) | |
| Familial Acanthosis Nigricans | |
| Familial Acoustic Neuroma | |
| Familial Acromegaly | |
| Familial Acute Myeloid Leukemia | |
| Familial Acute Myeloid Leukemia With Mutated Cebpa | |
| Familial Acute Necrotizing Encephalopathy | |
| Familial Adenomatous Polyposis | An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. |
| Familial Alcoholism | |
| Familial Alzheimer Disease | |
| Familial Amyloid Neuropathy | |
| Familial Amyloid Polyneuropathy | |
| Familial Antiphospholipid Syndrome | |
| Familial Aplasia Of The Vermis | |
| Familial Apoceruloplasmin Deficiency | |
| Familial Apolipoprotein C-Ii Deficiency | |
| Familial Atypical Hemolytic Uremic Syndrome | |
| Familial Atypical Mole Melanoma Syndrome | |
| Familial Atypical Multiple Mole-Melanoma | |
| Familial Benign Hypercalcemia | |
| Familial Benign Neonatal Epilepsy | |
| Familial Benign Pemphigus | |
| Familial Bicuspid Aortic Valve | |
| Familial Cardiomyopathy | |
| Familial Central Diabetes Insipidus | |
| Familial Cerebral Amyloid Angiopathy | |
| Familial Cerebral Cavernous Malformation | |
| Familial Cervical Artery Dissection | |
| Familial Charge Syndrome | |
| Familial Chondrocalcinosis | |
| Familial Chordoma | |
| Familial Chronic Lymphocytic Leukemia | |
| Familial Cold Autoinflammatory Syndrome | |
| Familial Cold Urticaria | Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. |
| Familial Colorectal Camcer | |
| Familial Creutzfeldt-Jakob | |
| Familial Dementia | |
| Familial Dermographism | |
| Familial Dilated Cardiomyopathy | |
| Familial Dyshormonogenetic Goiter | |
| Familial Dystonia | |
| Familial Ebstein'S Anomaly | |
| Familial Ectopia Lentis | |
| Familial Encephalopathy With Neuroserpin Inclusion Bodies | A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. |
| Familial Eosinophilia | |
| Familial Epilepsies | |
| Familial Erythrocytosis | |
| Familial Expansile Osteolysis | |
| Familial Extrahepatic Biliary Atresia | |
| Familial Exudative Vitreoretinopathy | |
| Familial Generalized Lipodystrophy | |
| Familial Glucocorticoid Deficiency | |
| Familial Hdl Deficiency | |
| Familial Hematuria | |
| Familial Hemiplegic Migraine | A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. |
| Familial Hemolytic Uremic Syndrome | |
| Familial Hemorrhagic Diathesis | |
| Familial Hyperaldosteronism | |
| Familial Hyperalphalipoproteinemia | |
| Familial Hypercholesterolemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| Familial Hyperekplexia | |
| Familial Hyperparathyroidism | |
| Familial Hyperprolactinemia | |
| Familial Hyperthyroidism | |
| Familial Hypertrophic Cardiomyopathy | |
| Familial Hypertryptophanemia | |
| Familial Hypoaldosteronism | |
| Familial Hypobetalipoproteinemia | |
| Familial Hypodontia | |
| Familial Hypophosphatemia | |
| Familial Hypophosphatemic Rickets | |
| Familial Idiopathic Hypercalciuria | |
| Familial Idiopathic Pulmonary Fibrosis | |
| Familial Immunoglobulin A Nephropathy | |
| Familial Incomplete Male Pseudohermaphroditism | |
| Familial Infantile Myasthenia | |
| Familial Intestinal Polyposis | |
| Familial Intrahepatic Cholestasis Of Pregnancy | |
| Familial Isolated Hyperparathyroidism | |
| Familial Isolated Trichomegaly | |
| Familial Juvenile Gout | |
| Familial Juvenile Parkinsonism | |
| Familial Lambdoid Synostosis | |
| Familial Lcat Deficiency | |
| Familial Lichen Amyloidosis | |
| Familial Lipoprotein Deficiency | |
| Familial Malignant Melanoma Of Skin | |
| Familial Malignant Neoplasm Of Pancreas | |
| Familial Mastocytosis | |
| Familial Mediterranean Fever | A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. |
| Familial Mediterranean Fever, Autosomal Dominant | |
| Familial Medullary Thyroid Carcinoma | OMIM mapping confirmed by DO. [SN]. |
| Familial Meningioma | OMIM mapping confirmed by DO. [SN]. |
| Familial Migraine | |
| Familial Mitral Valve Prolapse | |
| Familial Motor Neuron Disease | |
| Familial Multiple Coagulation Factor Deficiency | |
| Familial Multiple Factor Deficiency Syndrome | |
| Familial Multiple Lipomatosis | |
| Familial Multiple Myeloma | |
| Familial Multiple Trichodiscomas | |
| Familial Multiple Trichoepitheliomata | |
| Familial Myelofibrosis | |
| Familial Neurocardiogenic Syncope | |
| Familial Non-Medullary Thyroid Cancer | |
| Familial Non-Neuropathic Amyloidosis | |
| Familial Nonmedullary Thyroid Cancer | |
| Familial Nonmedullary Thyroid Gland Carcinoma | |
| Familial Obesity | |
| Familial Olivopontocerebellar Atrophy | |
| Familial Osteochondritis Dissecans | |
| Familial Paget'S Disease Of Bone | |
| Familial Partial Lipodystrophy | A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. |
| Familial Periodic Paralysis | |
| Familial Pityriasis Rubra Pilaris | |
| Familial Polycythemia Vera | |
| Familial Porphyria Cutanea Tarda | |
| Familial Primary Gastric Lymphoma | |
| Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia | |
| Familial Primary Pulmonary Hypertension | |
| Familial Progressive Hyper And Hypopigmentation | |
| Familial Progressive Myoclonic Epilepsy | |
| Familial Pseudohyperkalemia | |
| Familial Psoriasis | |
| Familial Pulmonary Arterial Hypertension | |
| Familial Renal Cell Carcinoma | |
| Familial Renal Glucosuria | |
| Familial Renal Hypouricemia | |
| Familial Restrictive Cardiomyopathy (Disorder) | |
| Familial Retinoblastoma | |
| Familial Schizencephaly | |
| Familial Sick Sinus Syndrome | |
| Familial Spontaneous Pneumothorax | |
| Familial Testicular Germ Cell Tumor | |
| Familial Testotoxicosis | |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection | |
| Familial Thrombocytosis | |
| Familial Thrombotic Thrombocytopenic Purpura | |
| Familial Thyroid Dyshormonogenesis | |
| Familial Torsion Dystonia | |
| Familial Tremor | |
| Familial Vascular Leukoencephalopathy | |
| Familial Ventricular Tachycardia | |
| Familial Vesicoureteral Reflux | |
| Familial Waldenstrom'S Macroglobulinaemia | |
| Fanconi Anemia | |
| Fanconi Like Syndrome | |
| Fanconi Renotubular Syndrome | |
| Fanconi Syndrome | A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. |
| Fanconi-Bickel Syndrome | |
| Farber Lipogranulomatosis | OMIM mapping confirmed by DO. [SN]. |
| Farmer'S Lung | An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. |
| Fasciculoventricular Accessory Pathway | |
| Fasciitis | |
| Fasciitis, Plantar | |
| Fascioliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. |
| Fast Acetylator Due To N-Acetyltransferase Enzyme Variant | |
| Fastkd2-Related Infantile Mitochondrial Encephalomyopathy | |
| Fatal Familial Insomnia | OMIM mapping confirmed by DO. [SN]. |
| Fatal Infantile Mitochondrial Cardiomyopathy | |
| Fatal Infectious Mononucleosis | |
| Fatal Post-Viral Neurodegenerative Disorder | |
| Fatigable Positional Nystagmus | |
| Fatty Acid Deficiency | |
| Fatty Acid Hydroxylase-Associated Neurodegeneration | |
| Fatty Acid Oxidation Disorder | |
| Fatty Liver | Inflammation of the liver related to lipid accumulation in fatty liver.|Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS. |
| Fatty Liver Disease | A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. |
| Fatty Liver, Alcoholic | |
| Fava Bean-Induced Hemolytic Anemia | A kind of hemolytic anemia that is induced by the ingestion of fava beans. |
| Favism | |
| Favre-Racouchot Syndrome | |
| Fazio-Londe Syndrome | |
| Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome | |
| Fcd Iia | |
| Fcd Iib | |
| Fear Of Heights | |
| Febrile Convulsions | |
| Febrile Infection Related Epilepsy Syndrome | |
| Febrile Neutropenia | |
| Febrile Seizures | Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two. |
| Febrile Ulceronecrotic Mucha-Habermann Disease | |
| Febrile Urinary Tract Infection | |
| Fecal Incontinence | |
| Fecal Peritonitis | |
| Fechtner Syndrome (Disorder) | |
| Feeding Disorders | |
| Feingold Syndrome | Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. |
| Feline Fibrosarcoma | |
| Feline Lymphoma | |
| Feline Mammary Carcinoma | |
| Feline Oral Squamous Cell Carcinoma | |
| Feline Osteosarcoma | |
| Felty Syndrome | |
| Female Anorgasmia | |
| Female Athlete Triad Syndrome | |
| Female Breast Carcinoma | A breast carcinoma that is manifested in the female breast. |
| Female Hypogonadism Syndrome | |
| Female Infertility Associated With Anovulation | |
| Female Pseudo-Turner Syndrome | |
| Female Pseudohermaphroditism | Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. |
| Female Sexual Dysfunction | |
| Female Stress Incontinence | |
| Femoral Artery Occlusion | |
| Femoral Hypoplasia - Unusual Facies Syndrome | |
| Femur Bifid With Monodactylous Ectrodactyly | |
| Femur Head Necrosis | |
| Fenestration (Morphologic Abnormality) | |
| Ferro-Cerebro-Cutaneous Syndrome | |
| Ferrochelatase Deficiency | |
| Fetal Abnormality | |
| Fetal Acidosis | |
| Fetal Adenocarcinoma | |
| Fetal Alcohol Syndrome | A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. |
| Fetal Anemia | |
| Fetal Anencephaly | |
| Fetal Ascites | Accumulation of fluid in the peritoneal cavity during the fetal period. |
| Fetal Cardiomyopathy | |
| Fetal Cerebral Ventriculomegaly | |
| Fetal Dilated Cardiomyopathy | |
| Fetal Distress | |
| Fetal Heart Failure | |
| Fetal Hydantoin Syndrome | |
| Fetal Hypoxia | |
| Fetal Lung Adenocarcinoma | |
| Fetal Macrosomia | |
| Fetal Malnutrition | |
| Fetal Malnutrition Without Mention Of Light-For-Dates | |
| Fetal Megacystis | Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. |
| Fetal Microcephaly | |
| Fetal Nutrition Disorders | |
| Fetal Pyelectasis | |
| Fetal Resorption | |
| Fetal Rhabdomyoma | |
| Fetal Thrombotic Vasculopathy | |
| Fetus Affected By Placental Transfer Of Anticonvulsant | |
| Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk | |
| Fg Syndrome | An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. |
| Fibrillary Astrocytoma | An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. |
| Fibrillary Glomerulonephritis | |
| Fibrillation | asynchronous contraction or quivering of individual cardiac muscle fibers |
| Fibrin Thrombus | |
| Fibrinogen Deficiency | |
| Fibrinogen Milano Xii, Digenic Phenotype | |
| Fibrinolytic Defect | |
| Fibrinolytic Disorder | |
| Fibroadenoma | |
| Fibroadenoma Of Breast | |
| Fibroadenosis | |
| Fibroatheroma | |
| Fibroblastic Osteosarcoma | |
| Fibrocalculous Pancreatic Diabetes | |
| Fibrocartilaginous Dysplasia Of Bone | |
| Fibrochondrogenesis | |
| Fibrocystic Disease Of Pancreas | |
| Fibrocystic Dysplasia Of Bone | |
| Fibrodysplasia Ossificans Progressiva | .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. |
| Fibroelastosis | |
| Fibroepithelioma Of Pinkus | |
| Fibrofolliculoma | |
| Fibroid Tumor | |
| Fibrolamellar Hepatocellular Carcinoma | |
| Fibrolipoma | |
| Fibroma | |
| Fibroma Of Tendon Sheath | |
| Fibromatosis | A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. |
| Fibromatosis Colli | |
| Fibromatosis, Abdominal | |
| Fibromatosis, Aggressive | |
| Fibromatosis, Gingival | |
| Fibromatosis, Palmar | |
| Fibromatosis, Plantar | |
| Fibromatosis-Like Metaplastic Carcinoma | |
| Fibromuscular Dysplasia | |
| Fibromyalgia | A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. |
| Fibromyxosarcoma | |
| Fibrosarcoma | |
| Fibrosarcoma Metastatic | |
| Fibrosclerosis Of Breast | |
| Fibrosing Adenosis | |
| Fibrosing Disease | |
| Fibrosis Of Bile Duct | |
| Fibrosis Of Corpus Cavernosum | |
| Fibrosis Of Extraocular Muscles | |
| Fibrosis Of Pancreas | |
| Fibrosis Of Pleura | |
| Fibrosis Of Urinary Bladder | |
| Fibrosis, Liver | |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis | |
| Fibrothecoma | |
| Fibrotic Lymphadenopathy | |
| Fibrous Bands | |
| Fibrous Body | |
| Fibrous Dysplasia | A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. |
| Fibrous Dysplasia Of Bone With Intramuscular Myxoma | |
| Fibrous Dysplasia, Monostotic | |
| Fibrous Hamartoma Of Infancy | |
| Fibrous Histiocytoma Of Tendon Sheath | |
| Fibrous Meningioma | |
| Fibrous Nodule | |
| Fibrous Papule Of Face | |
| Fibrous Papule Of Nose | |
| Fibrous Skin Tumor Of Tuberous Sclerosis | |
| Fibrous Syngnathia | Complete or nearly complete soft tissue fusion of the alveolar ridges. |
| Fibular Bowing | A bending or abnormal curvature of the fibula. |
| Fibular Hypoplasia And Complex Brachydactyly | An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. |
| Ficolin 3 Deficiency | |
| Fifth Finger Distal Phalanx Clinodactyly | Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). |
| Figo Stage Iii Ovarian Cancer | |
| Filaminopathy, Autosomal Dominant | |
| Filarial Elephantiases | |
| Filariasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. |
| Filiform Serrated Adenoma | |
| Filippi Syndrome | |
| Filoviridae Infections | |
| Fine Corneal Edema | |
| Finger Symphalangism | |
| Finger Syndactyly | Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as Symphalangism. |
| Fingernail Dysplasia | An abnormality of the development of the fingernails. |
| Finnish Congenital Nephrotic Syndrome | |
| First Degree Atrioventricular Block | |
| First Myocardial Infarction | |
| Fish Melanoma | |
| Fish-Eye Disease | Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. |
| Fissured Tongue | OMIM mapping confirmed by DO. [SN]. |
| Fistula Of Branchial Cleft | |
| Fistula Of Genitourinary Tract | |
| Fistulising Crohn'S Disease | |
| Fixed Cutaneous Sporotrichosis | |
| Flank Mass | |
| Flap Necrosis | |
| Flared Femoral Metaphysis | |
| Flared Humeral Metaphysis | Flaring (increase of width with a splayed appearance) of the humeral metaphysis. |
| Flash Pulmonary Oedema | |
| Flashing | |
| Flat Distal Femoral Epiphysis | |
| Flat Ductal Epithelial Atypia Of The Breast | |
| Flattened Metacarpal Heads | Abnormally flat shape of the heads of the metacarpal bones. |
| Flattened Metatarsal Heads | Abnormally flat shape of the heads of the metatarsal bones. |
| Flea Infestation | |
| Fleck Corneal Dystrophy | Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. |
| Fleck Retina, Familial Benign | |
| Flexion Contracture | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Flexion Contracture - Elbow | |
| Flexion Contracture - Wrist | |
| Flexion Contracture Of Hip | |
| Flexion Contracture Of The 2Nd Toe | |
| Flexion Contracture-Shoulder | |
| Flexor Tenosynovitis | |
| Flexural Atopic Dermatitis | |
| Flipel-Feil Syndrome | |
| Floating-Harbor Syndrome | Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. |
| Floppy Infant Syndrome | |
| Floppy Lid Syndrome | |
| Florid Cemento-Osseous Dysplasia | |
| Flu Symptoms | |
| Fluid Overload | |
| Fluoride Poisoning | |
| Fnaitp | |
| Focal Chorioretinitis | |
| Focal Clonic Seizures | |
| Focal Cortical Dysplasia | |
| Focal Cortical Dysplasia Of Taylor | |
| Focal Cortical Dysplasia Type Iia | |
| Focal Cortical Dysplasia Type Iib | |
| Focal Dermal Hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Focal Dysplasia | |
| Focal Dystonia | A dystonia that is localized to a specific part of the body. |
| Focal Emphysema | |
| Focal Epithelial Hyperplasia | A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. |
| Focal Facial Dermal Dysplasia | |
| Focal Facial Dermal Dysplasia 4 | |
| Focal Glomerulosclerosis | |
| Focal Infection | |
| Focal Lissencephaly | |
| Focal Myoclonic Seizures | |
| Focal Nodular Hyperplasia | |
| Focal Nodular Hyperplasia Of Liver | |
| Focal Oral Mucinosis | |
| Focal Palmoplantar Keratoderma With Joint Keratoses | |
| Focal Segmental Glomerulosclerosis | A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. |
| Focal Seizures, Afebril | |
| Focal Sensory Seizure | |
| Focal Thyroiditis | |
| Focal Tonic Seizures | |
| Folate Malabsorption, Hereditary | |
| Folate-Unresponsive Megaloblastic Anemia | A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. |
| Foley-Denny-Brown Syndrome | |
| Folic Acid Deficiency | |
| Folinic Acid Responsive Seizure Syndrome | |
| Follicle Stimulating Hormone Deficiency | |
| Follicle-Stimulating Hormone Deficiency, Isolated | |
| Follicular Adenoma | |
| Follicular Atrophoderma | |
| Follicular Atrophoderma And Basal Cell Epitheliomata | |
| Follicular B-Cell Non-Hodgkin'S Lymphoma | |
| Follicular Bronchiolitis | |
| Follicular Carcinoma, Clear Cell | |
| Follicular Carcinoma, Widely Invasive | |
| Follicular Cyst | |
| Follicular Ichthyosis | |
| Follicular Keratosis | |
| Follicular Neoplasm | |
| Follicular Non-Hodgkin'S Lymphoma, Large Cell | |
| Follicular Non-Hodgkin'S Lymphoma, Small Cleaved Cell | |
| Follicular Occlusion Triad - Hidradenitis, Acne Conglobata, Dissecting Cellulitis Of Scalp | |
| Follicular T-Cell Lymphoma | |
| Follicular Thyroid Carcinoma | A thyroid carcinoma that has_material_basis_in follicular cells. |
| Follicular Variant Thyroid Gland Papillary Carcinoma | |
| Folliculitis | |
| Folliculitis Decalvans | |
| Folliculosebaceous Cystic Hamartoma | |
| Fontaine Syndrome | |
| Food Addiction | |
| Food Allergy In Infants | |
| Food Anaphylaxis | |
| Food Aversion | |
| Food Hoarding | |
| Food Intolerance (Disorder) | |
| Food Poisoning | |
| Food Poisoning Caused By Vibrio Parahaemolyticus | |
| Food-Protein Induced Enterocolitis Syndrome | |
| Foot Drop | |
| Foot Osteomyelitis | |
| Foot Ulcer | |
| Foramen Ovale, Patent | |
| Fordyce'S Disease | |
| Forearm Undergrowth | Forearm shortening because of underdevelopment of one or more bones of the forearm. |
| Forebrain Defects | |
| Foreign Body Giant Cell Granuloma | |
| Foster-Kennedy Syndrome | |
| Fournier Gangrene | |
| Fourth Cranial Nerve Paresis | |
| Foveal Hypoplasia | |
| Foveal Hypoplasia And Anterior Segment Dysgenesis | |
| Foveal Hypoplasia, Isolated | |
| Fowler Syndrome | |
| Fowlpox | |
| Foxg1 Syndrome | |
| Fracture Infection | |
| Fragile X Chromosome | |
| Fragile X Syndrome | A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function. |
| Fragile X Tremor/Ataxia Syndrome | |
| Fragmented Epiphyses | Fragmented appearance of the epiphyses. |
| Fragments Of Torsion Dystonia | |
| Franceschetti-Klein Syndrome | |
| Fraser Syndrome | |
| Frasier Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Fraxa Syndrome | |
| Fraxe Syndrome | |
| Fraxf Syndrome | |
| Free Sialic Acid Storage Disease | |
| Freeman-Sheldon Syndrome | |
| Freemartin | |
| Freemartinism | |
| Frias Syndrome | |
| Friedreich Ataxia | Xref MGI. |
| Friedreich Ataxia 1 | |
| Friend Leukemia | |
| Frigidity | |
| Froehlich'S Syndrome | |
| Frontal Bossing | Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. |
| Frontal Cortical Atrophy | Atrophy of the frontal cortex. |
| Frontal Dementia | |
| Frontal Encephalocele | |
| Frontal Epilepsy, Benign, Childhood | |
| Frontal Fibrosing Alopecia | |
| Frontometaphyseal Dysplasia | Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss. |
| Frontonasal Dysplasia | |
| Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome | |
| Frontoparietal Cortical Dysplasia | The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. |
| Frontotemporal Cerebral Atrophy | Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. |
| Frontotemporal Dementia | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| Frontotemporal Dementia With Motor Neuron Disease | |
| Frontotemporal Lobar Degeneration | |
| Fructose-1,6-Diphosphatase Deficiency | |
| Fryns Syndrome | |
| Fryns-Aftimos Syndrome | |
| Ftld-Tdp, Tardbp-Related | |
| Fuchs | |
| Fuchs Endothelial Dystrophy | |
| Fuchs' Heterochromic Cyclitis | |
| Fuchs' Syndrome | |
| Fucosidase Deficiency Disease | |
| Fucosidosis | OMIM mapping confirmed by DO. [SN]. |
| Fuhrmann Syndrome | |
| Fukuyama Type Congenital Muscular Dystrophy | |
| Full Supernumerary Rib | |
| Full Thickness Hole Of Macula Lutea | |
| Fullness Of Paranasal Tissue | Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. |
| Fulminant Hepatic Failure With Cerebral Edema | |
| Fulminant Hepatitis | Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. |
| Fulminant Hepatitis B | |
| Fulminant Type 1 Diabetes Mellitus | |
| Fulminant Wilson'S Disease | |
| Fumarase Deficiency | |
| Fumaric Aciduria | Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. |
| Functional Abnormality Of Male Internal Genitalia | |
| Functional Diarrhea | |
| Functional Diarrhoea (Due To Spastic Colon) | |
| Functional Disorder Of Intestine | |
| Functional Gastrointestinal Disorders | |
| Functional Mitral Regurgitation | |
| Functional Neurological Symptom Disorder | |
| Functional Proteinuria | |
| Functioning Endocrine Neoplasm | |
| Functionless Pituitary Neoplasm | |
| Fundic Gland Polyp | |
| Fundus Albipunctatus | A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. |
| Fundus Albipunctatus, Autosomal Recessive | |
| Fundus Coloboma | |
| Fundus Dystrophy, Pseudoinflammatory, Of Sorsby | |
| Fungal Keratitis | |
| Fungal Peritonitis | |
| Fungal Pneumonia | |
| Fungemia | |
| Fungus Ball | |
| Funisitis (Disorder) | |
| Furuncle | |
| Furunculosis | |
| Fusariosis | An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. |
| Fused Cervical Vertebrae | A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. |
| Fused Kidney | |
| Fused Teeth | The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. |
| Fused Thoracic Vertebrae | |
| Fusiform Aneurysm | |
| Fusion-Negative Alveolar Rhabdomyosarcoma | |
| Fusion-Negative Rhabdomyosarcoma | |
| Fusion-Positive Alveolar Rhabdomyosarcoma | |
| Fusion-Positive Rhabdomyosarcoma | |
| Gabriele-De Vries Syndrome | |
| Gait Apraxia | |
| Gait Disorders, Neurologic | |
| Galactorrhea | Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. |
| Galactorrhea Associated With Childbirth | |
| Galactorrhea Not Associated With Childbirth | |
| Galactose Epimerase Deficiency, Severe | |
| Galactosemias | |
| Galactosialidosis | |
| Gallbladder Adenocarcinoma | A gallbladder carcinoma that derives_from epithelial cells of glandular origin. |
| Gallbladder Adenoma | |
| Gallbladder Anomaly Congenital | |
| Gallbladder Carcinoma | A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Gallbladder Disease 4 | |
| Gallbladder Melanoma | |
| Gallbladder Neoplasm | |
| Gallbladder Squamous Cell Carcinoma | |
| Gallbladder, Agenesis Of | |
| Galloway Mowat Syndrome | |
| Galloway-Mowat Syndrome | |
| Gallstone Pancreatitis | |
| Galns Deficiency | |
| Gambling, Pathological | |
| Gaming Disorder | |
| Gamma Aminobutyric Acid Transaminase Deficiency | |
| Gamma Thalassemia | |
| Gamma-Chain Disease | |
| Gamma-Cystathionase Deficiency | |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To | |
| Gamma-Glutamyltransferase Deficiency | |
| Gammopathy | |
| Ganglioglioma | |
| Ganglioglioma, Intracranial | |
| Ganglioneuroblastoma | A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, and nodular.|A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. |
| Ganglioneuroblastoma, Intermixed | |
| Ganglioneuroblastoma, Nodular | |
| Ganglioneuroma | |
| Ganglioneuromatosis | |
| Gangliosidoses | |
| Gangliosidoses, Gm2 | |
| Gangliosidosis Gm1 | OMIM mapping confirmed by DO. [SN]. |
| Gangliosidosis Gm2 | |
| Gangliosidosis Gm3 | |
| Gangliosidosis Gm4 | |
| Gangliosidosis Gm5 | |
| Gangrene | A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). |
| Gardner Fibroma | |
| Gardner Syndrome | Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term). |
| Gas Bubble Disease | |
| Gas Gangrene | A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. |
| Gastric Adenocarcinoma | A stomach carcinoma that derives_from epithelial cells of glandular origin. |
| Gastric Adenoma | |
| Gastric Adenosquamous Carcinoma | |
| Gastric Antral Vascular Ectasia | |
| Gastric Burkitt Lymphoma | |
| Gastric Cancer | disease cluster belonging to disease group cancer |
| Gastric Cancer, Intestinal | |
| Gastric Candidiasis | |
| Gastric Carcinoid Tumor | |
| Gastric Carcinoma With Lymphoid Stroma | |
| Gastric Cardia Adenocarcinoma | |
| Gastric Cardia Carcinoma | |
| Gastric Choriocarcinoma | |
| Gastric Diffuse Large B-Cell Lymphoma | |
| Gastric Dysplasia | |
| Gastric Fistula | |
| Gastric Gastrointestinal Stromal Tumor | |
| Gastric Hepatoid Adenocarcinoma | |
| Gastric Hyperplastic Polyp | |
| Gastric Infection | |
| Gastric Inflammatory Myofibroblastic Tumor | |
| Gastric Lymphoma | |
| Gastric Mucosa-Associated Lymphoid Tissue Lymphoma | |
| Gastric Mucosal Lesion | |
| Gastric Neuroendocrine Carcinoma | |
| Gastric Neuroendocrine Tumor | |
| Gastric Or Duodenal Ulcer | |
| Gastric Plexiform Fibromyxoma | |
| Gastric Precancerous Condition | |
| Gastric Retention | |
| Gastric Schwannoma | |
| Gastric Squamous Cell Carcinoma | |
| Gastric T-Cell Non-Hodgkin Lymphoma | |
| Gastric Ulcer | A peptic ulcer of the gastric mucosa. |
| Gastric Ulcer Benign | |
| Gastric Varix | |
| Gastric Xanthoma | |
| Gastrinoma | A neuroendocrine tumor that results_in an overproduction of gastric acid. |
| Gastritis | A stomach disease that is an inflammation of the lining of the stomach. |
| Gastritis Caused By Bacterium | |
| Gastritis Cystica Profunda | |
| Gastritis H Pylori | |
| Gastritis, Atrophic | |
| Gastritis, Hypertrophic | |
| Gastro-Enteropancreatic Neuroendocrine Tumor | |
| Gastro-Esophageal Reflux Disease With Esophagitis | |
| Gastroduodenal Disorder | |
| Gastroduodenal Intussusception | |
| Gastroduodenitis | |
| Gastroenteritis | A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. |
| Gastroenteritis In Children | |
| Gastroenteritis, Transmissible, Of Swine | |
| Gastroenterocolitis | |
| Gastroesophageal Reflux Disease | Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER. |
| Gastroesophageal Varices | |
| Gastrointestinal Adenocarcinoma | |
| Gastrointestinal Allergy | |
| Gastrointestinal Amyloidosis | |
| Gastrointestinal Angiodysplasia | Dysplasia affecting the vasculature of the gastrointestinal tract. |
| Gastrointestinal Arteriovenous Malformation | |
| Gastrointestinal Atresia | |
| Gastrointestinal Carcinoid Tumor | |
| Gastrointestinal Carcinoma | A gastrointestinal system cancer that has_material_basis_in epithelial cells. |
| Gastrointestinal Crohn'S Disease | |
| Gastrointestinal Hamartomatous Polyps | |
| Gastrointestinal Hypomotility | |
| Gastrointestinal Infection | |
| Gastrointestinal Inflammation | |
| Gastrointestinal Lymphoma | |
| Gastrointestinal Mixed Adenoneuroendocrine Carcinoma | |
| Gastrointestinal Mucositis | |
| Gastrointestinal Perforation | |
| Gastrointestinal Stromal Sarcoma | |
| Gastrointestinal Stromal Tumor Of Small Intestine | |
| Gastrointestinal Stromal Tumor Of The Gastrointestinal Tract | |
| Gastrointestinal Stromal Tumor, Familial | |
| Gastrointestinal Telangiectasia | Telangiectasia affecting thegastrointestinal tract. |
| Gastrointestinal Tract Adenoma | |
| Gastrointestinal Tract Vascular Insufficiency | |
| Gastrointestinal Ulcer | any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue |
| Gastrointestinal Vascular Malformation | |
| Gastrooesophageal Cancer | |
| Gastrooesophageal Heterotopia | |
| Gastroparesis | |
| Gastroparesis With Diabetes Mellitus | |
| Gastroschisis | OMIM mapping confirmed by DO. [SN]. |
| Gata2 Deficiency | |
| Gaucher Disease | |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency | |
| Gaucher Disease, Perinatal Lethal | |
| Gaze Palsy | |
| Gelastic Epilepsy | |
| Gelatinous Droplike Corneal Dystrophy | |
| Geleophysic Dysplasia | Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). |
| Gemistocytic Astrocytoma | |
| Gemss Syndrome | |
| Gender-Based Violence | |
| Gene Genetic Abnormality | |
| Genee-Wiedemann Syndrome | |
| General Disorders And Administration Site Conditions | |
| General Paralysis | |
| Generalized Abnormality Of Skin | An abnormality of the skin that is not localized to any one particular region. |
| Generalized Amyotrophy | Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. |
| Generalized Anxiety Disorder | An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. |
| Generalized Cerebral Atrophy/Hypoplasia | Generalized atrophy or hypoplasia of the cerebrum. |
| Generalized Chronic Periodontitis | |
| Generalized Clonic Seizures | Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec. |
| Generalized Convulsive Epilepsy | |
| Generalized Distal Tubular Acidosis | |
| Generalized Dystrophic Epidermolysis Bullosa | |
| Generalized Enlarged Lymph Nodes | |
| Generalized Epilepsy And Paroxysmal Dyskinesia | |
| Generalized Epilepsy With Febrile Seizures Plus | An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. |
| Generalized Epilepsy With Febrile Seizures Plus, 7 | |
| Generalized Glycogen Storage Disease Of Infants | |
| Generalized Hypopigmentation Of Hair | Reduced pigmentation of hair diffusely. |
| Generalized Hypotrichosis | |
| Generalized Limb Muscle Atrophy | Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. |
| Generalized Lipodystrophy | Generalized degenerative changes of the fat tissue. |
| Generalized Morphea | |
| Generalized Myoclonic Seizures | Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). |
| Generalized Myotonia Of Thomsen | |
| Generalized Nonconvulsive Seizure Disorder | |
| Generalized Obesity | |
| Generalized Osteoarthritis | |
| Generalized Osteopenia | |
| Generalized Osteoporosis | |
| Generalized Periodontitis | |
| Generalized Progressive Retinal Atrophy | |
| Generalized Pustular Psoriasis | |
| Generalized Seborrheic Dermatitis | |
| Generalized Seizures | Seizures of with initial involvement of both cerebral hemispheres. |
| Generalized Social Phobia | |
| Generalized Tetanus | |
| Generalized Thyroid Hormone Resistance | |
| Generalized Tonic-Clonic Seizures With Focal Onset | |
| Generalized Vitiligo | |
| Generialized Epilepsy With Febrile Seizures | |
| Genetic Hypertension | |
| Genetic Lipodystrophy | |
| Genetic Recurrent Myoglobinuria | |
| Genetic Transient Congenital Hypothyroidism | |
| Genital Herpes | A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. |
| Genital Infantilism | |
| Genital Lichen Planus | |
| Genital Lichen Sclerosus | |
| Genital Tuberculosis | |
| Genital Ulcers | |
| Genital Vulvovaginal Candidiasis | |
| Genitopatellar Syndrome | |
| Genitourinary Cancer | |
| Genitourinary Dysplasia | |
| Genu Recurvatum | An abnormally increased extension of the knee joint, so that the knee can bend backwards. |
| Geographic Atrophy | |
| Germ Cell Cancer | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells. |
| Germ Cell Neoplasia | |
| Germ Cell Tumor | A cancer that is derived_from germ cells.|Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. |
| Germinal Inclusion Cyst Of Ovary | |
| Germinoma | A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. |
| Geroderma Osteodysplastica | Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. |
| Gerstmann-Straussler-Scheinker Disease | |
| Gestational Choriocarcinoma | |
| Gestational Diabetes | |
| Gestational Trophoblastic Disease | |
| Gestosis | |
| Ghosal Hematodiaphyseal Dysplasia | |
| Ghosal Hematodiaphyseal Syndrome | |
| Ghost Cell Odontogenic Carcinoma | |
| Gianotti-Crosti Syndrome | |
| Giant Axonal Neuropathy | |
| Giant Axonal Neuropathy, Autosomal Dominant | |
| Giant Cell Angiofibroma | |
| Giant Cell Arteritis | |
| Giant Cell Astrocytoma | |
| Giant Cell Carcinoma Of Lung | |
| Giant Cell Epulis | |
| Giant Cell Fibroblastoma | |
| Giant Cell Glioblastoma | A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. |
| Giant Cell Lesion Of Small Bones | |
| Giant Cell Myocarditis | |
| Giant Cell Tumor Of Bone | A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. |
| Giant Cell Tumor Of Soft Tissue | |
| Giant Intracranial Aneurysm | |
| Giant Pigmented Hairy Nevus | |
| Giant Platelet Disorder | |
| Giant Platelet Syndrome With Thrombocytopenia | |
| Giardia Duodenalis Infection | |
| Giardiasis | A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. |
| Gigantiform Cementoma, Familial | |
| Gigantism | |
| Gil Blood Group | |
| Gilbert Disease (Disorder) | |
| Gilles De La Tourette Syndrome | A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. |
| Gillespie Syndrome | |
| Gingival Hyperkeratosis | Hyperkeratosis of the gingiva. |
| Gingival Hypertrophy | |
| Gingival Recession | |
| Gingival Squamous Cell Carcinoma | |
| Gingivitis | |
| Gingivostomatitis | |
| Gitelman Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Glabellar Hemangioma | |
| Glanders And Melioidosis | |
| Glandular Neoplasms | |
| Glandular Odontogenic Cyst | |
| Glandular Papilloma | |
| Glandular Tularemia | A tularemia that results_in swelling of regional lymph glands. |
| Glanzmann Thrombasthenia | |
| Glasser'S Disease | |
| Glassy Cell Carcinoma | |
| Glassy Cell Carcinoma Of The Cervix | |
| Glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| Glaucomatocyclitic Crisis | |
| Glaucomatous Atrophy Of Optic Disc | |
| Glaucomatous Retinal Degeneration | |
| Glial Tumor Of Brain (Disorder) | |
| Glioblastoma | |
| Glioblastoma Multiforme, Somatic | |
| Glioblastoma, Idh-Wildtype | |
| Gliofibroma | |
| Glioma | |
| Glioma Susceptibility | |
| Gliomatosis Cerebri | |
| Glioneuronal Tumor | |
| Glioneuronal Tumor With Neuropil-Like Islands | |
| Gliosarcoma | |
| Global Developmental Delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| Globoid Cell Leukodystrophy | |
| Glomangioma | |
| Glomerulitis (Disorder) | |
| Glomerulocystic Kidney Disease | |
| Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria | |
| Glomeruloid Hemangioma | |
| Glomerulomegaly | |
| Glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| Glomerulonephritis, Membranoproliferative | |
| Glomerulonephritis, Minimal Change | |
| Glomerulopathy With Fibronectin Deposits | |
| Glomerulopathy With Fibronectin Deposits 2 (Disorder) | |
| Glomerulosclerosis (Disorder) | |
| Glomus Jugulare Tumor | |
| Glomus Tumor | A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. |
| Glomus Tumor Of Uncertain Malignant Potential | |
| Glomus Tumor, Malignant | |
| Glomus Tympanicum Paraganglioma | |
| Glomus Vagale Tumor | |
| Glomuvenous Malformations | |
| Glossitis | |
| Glossitis, Benign Migratory | |
| Glossoptosis | Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. |
| Glottic Squamous Cell Carcinoma | |
| Glucagon Resistance | |
| Glucagonoma | Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. |
| Glucocorticoid Deficiency | disease cluster belonging to disease group metabolic |
| Glucocorticoid Deficiency With Achalasia | |
| Glucocorticoid Receptor Deficiency | |
| Glucocorticoid-Remediable Aldosteronism | OMIM mapping confirmed by DO. [SN]. |
| Glucocortocoid-Insensitive Primary Hyperaldosteronism | |
| Glucose Phosphate Isomerase Deficiency | |
| Glucose-6-Phosphate Transport Defect | |
| Glut1 Deficiency Syndrome | |
| Glutamate Formiminotransferase Deficiency | |
| Glutamate-Cysteine Ligase Deficiency | |
| Glutamine Deficiency, Congenital | |
| Glutaric Acidemia | An increased concentration of glutaric acid in the blood. |
| Glutaric Aciduria | An increased concentration of glutaric acid in the urine. |
| Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To | |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To | |
| Gluten Intolerance | |
| Gluten Sensitivity | |
| Gluthathione Peroxidase Deficiency | |
| Gluthathione Synthetase Deficiency | |
| Glycine Encephalopathy With Normal Serum Glycine | |
| Glycogen Storage Disease | A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. |
| Glycogen Synthase Deficiency | |
| Glycogenic Acanthosis | |
| Glycoprotein Ia Deficiency | |
| Glycoprotein Storage Disease | |
| Glycoprotein Vi Deficiency | |
| Glycosphingolipidoses | |
| Glycosuria, Renal | |
| Glycosylphosphatidylinositol Biosynthesis Defect | |
| Glycosylphosphatidylinositol Deficiency | |
| Gm2-Gangliosidosis | |
| Gnathostomiasis | |
| Goatpox | |
| Goldberg-Shprintzen Megacolon Syndrome | |
| Goldblatt'S Kidney | |
| Goldenhar Syndrome | A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. |
| Goldmann-Favre Syndrome (Disorder) | |
| Gonadal Agenesis | |
| Gonadal Dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| Gonadal Hypoplasia | |
| Gonadal Neoplasm | A tumor (abnormal growth of tissue) of a gonad. |
| Gonadoblastoma | A cell type benign neoplasm that is composed_of a mixture of gonadal elements. |
| Gonadotroph Adenoma | |
| Gonadotropin Deficiency | A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). |
| Gonadotropin Releasing Factor Deficiency | |
| Gonadotropin-Resistant Ovary Syndrome | |
| Gonarthrosis | |
| Goniodysgenesis | |
| Gonococcal Arthritis Dermatitis Syndrome | |
| Gonococcal Urethritis | |
| Gonorrhea | A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. |
| Gorlin Chaudhry Moss Syndrome | |
| Gout | Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. |
| Gout Attack | |
| Gout Flare | |
| Gout Tophaceous | |
| Gout, Hprt-Related | |
| Gouty Nephropathy | |
| Gracile Bone Dysplasia | |
| Gracile Syndrome (Disorder) | |
| Grade 3 Invasive Breast Carcinoma | |
| Grade 3 Teratoma | |
| Gradenigo Syndrome | |
| Graft Ischaemia | |
| Graft Versus Host Disease In Skin | |
| Graft-Vs-Host Disease | |
| Graham Little Piccardi Lassueur Syndrome | |
| Gram-Negative Bacteremia | |
| Gram-Positive Bacteremia | |
| Gram-Positive Septic Shock | |
| Grammar-Specific Speech Disorder | |
| Grand Mal Status Epilepticus | |
| Grand Mal Status Epilepticus, Refractory | |
| Granular Cell Tumor | |
| Granular Cell Tumor Of The Neurohypophysis | |
| Granular Cell Tumor Of The Sellar Region | |
| Granular Dystrophy, Corneal | |
| Granulocytic Hyperplasia | |
| Granulocytic Sarcoma | |
| Granulocytopenia Severe | |
| Granulocytopenia With Immunoglobulin Abnormality | |
| Granulocytopenic Disorder | |
| Granulocytosis | |
| Granuloma Annulare | |
| Granuloma, Giant Cell Reparative | |
| Granulomatosis | Formation of multiple granulomas, i.e., localized nodular foci inflammation. |
| Granulomatosis With Polyangiitis | |
| Granulomatosis, Orofacial | |
| Granulomatous Angiitis | |
| Granulomatous Cholangitis | |
| Granulomatous Dermatitis | |
| Granulomatous Disease | |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii | |
| Granulomatous Hepatitis | |
| Granulomatous Ileocolitis | |
| Granulomatous Infection | |
| Granulomatous Interstitial Nephritis | |
| Granulomatous Iritis | |
| Granulomatous Mastitis | |
| Granulomatous Mycosis Fungoides | |
| Granulomatous Prostatitis | |
| Granulomatous Rosacea | |
| Granulomatous Slack Skin | |
| Granulomatous Uveitis | |
| Granulosa Cell Cancer | |
| Granulosa Cell Tumor | |
| Grass Allergy | |
| Graves Disease | A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy). |
| Graves' Disease In Remission | |
| Gray Platelet Syndrome | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
| Greig Cephalopolysyndactyly Syndrome | An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. |
| Greig Cephalopolysyndactyly Syndrome, Severe | |
| Greither Disease | |
| Griscelli Syndrome | |
| Grn-Related Frontotemporal Dementia | |
| Groenouw Corneal Dystrophy Type I (Disorder) | |
| Groenouw'S Dystrophies | |
| Groin Nodes | |
| Gronblad-Strandberg Syndrome | |
| Groove Pancreatitis | |
| Gross Motor Development Delay | |
| Gross Obesity | |
| Group 3 Pulmonary Hypertension | |
| Group A Streptococcal Infections | |
| Group B Streptococcal Infection | |
| Group B Streptococcal Pneumonia | |
| Grover'S Disease | |
| Growing Teratoma Syndrome | |
| Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate | |
| Growth Deficiency And Mental Retardation With Facial Dysmorphism | |
| Growth Hormone Deficiency With Pituitary Anomalies | |
| Growth Hormone Treatment | |
| Growth Hormone-Producing Pituitary Gland Neoplasm | |
| Growth Hormone-Secreting Pituitary Adenoma | |
| Growth Restriction, Severe, With Distinctive Facies | |
| Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy | |
| Growth Retardation, Developmental Delay, Coarse Facies, And Early Death | |
| Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy | |
| Gsd Iv, Classic Hepatic | |
| Gsd Iv, Neumuscular Form | |
| Guanidinoacetate Methyltransferase Deficiency | |
| Guillain-Barre Syndrome | An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. |
| Guillain-Barre Syndrome, Familial | |
| Gurrieri Sammito Bellussi Syndrome | |
| Guttate Psoriasis | |
| Gynandroblastoma | |
| Gynecomastia | |
| Gyrate Atrophy | OMIM mapping by NeuroDevNet. [LS]. |
| Gyrate Atrophy Of Choroid And Retina With Pyridoxine-Responsive Ornithinemia | |
| H3N2 Influenza | |
| H5N1 Influenza | |
| Haemangioma Of Bone | |
| Haematopoietic Neoplasms (Excl Leukaemias And Lymphomas) | |
| Haemophilia A With Anti Factor Viii | |
| Haemophilus Influenzae Type B Infection | |
| Haim-Monk Syndrome | |
| Haim-Munk Syndrome | |
| Hair Follicle Neoplasm | |
| Hair Follicle Nevus | |
| Hair Shafts Flattened At Irregular Intervals And Twisted Through 180 Degrees About Their Axes | |
| Hair-Nail Ectodermal Dysplasia | |
| Hairy Cell Leukemia | |
| Hairy Cell Leukemia Variant | |
| Hajdu-Cheney Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hallermann'S Syndrome | |
| Hallervorden-Spatz Syndrome | |
| Hallopeau-Siemens Disease | |
| Hallucinations | Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. |
| Hallucinogen Persisting Perception Disorder | |
| Hallucinosis | |
| Hallux Rigidus | |
| Hallux Valgus | Lateral deviation of the great toe (i.e., in the direction of the little toe). |
| Hallux Valgus Interphalangeus | |
| Hallux Varus | Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. |
| Halo Nevus | |
| Halothane Hepatitis | |
| Hamartoma | A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. |
| Hamman-Rich Syndrome | |
| Hamster Cholangiocarcinoma | |
| Hamster Fibrosarcoma | |
| Hamster Insulinoma | |
| Hamster Melanoma | |
| Hand Eczema | |
| Hand Foot Uterus Syndrome | |
| Hand Monodactyly | |
| Hand Polydactyly | A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. |
| Hand, Foot And Mouth Disease | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. |
| Hantavirus Infection In Conditions Classified Elsewhere And Of Unspecified Site | |
| Hantavirus Pulmonary Syndrome | A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. |
| Hard Drusen | |
| Hard Palate Squamous Cell Carcinoma | |
| Harderoporphyria | |
| Harding Ataxia | |
| Harel-Yoon Syndrome | |
| Harlequin Fetus | |
| Harlequin Type Ichthyosis | |
| Harmful Use Of Ketamine | |
| Hartnup Disease | An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. |
| Hashimoto Disease | |
| Hashimoto'S Encephalitis | |
| Hashish Abuse | |
| Hawkinsinuria | |
| Hay Fever | |
| Hay-Wells Syndrome | |
| Hb E Beta Zero Thalassemia | |
| Hb E Beta-Thalassemia | |
| Hb H Disease | |
| Hb-Sd | |
| Hbv Coinfection | |
| Hcv Coinfection | |
| Hdl Deficiency | |
| Head And Neck Basaloid Carcinoma | |
| Head And Neck Cancer Metastatic | |
| Head And Neck Carcinoma | |
| Head Deformity | |
| Head--Tumors | |
| Headache Disorders, Primary | |
| Headache, Intractable | |
| Healing Ulcer | |
| Hearing Loss | A general term for the complete or partial loss of the ability to hear from one or both ears. |
| Hearing Loss, Cisplatin-Induced, Susceptibility To | |
| Heart And Brain Malformation Syndrome | |
| Heart Block | Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. |
| Heart Block, Nonprogressive | |
| Heart Defect, Tongue Hamartoma And Polysyndactyly | |
| Heart Defects, Congenital, And Other Congenital Anomalies | |
| Heart Displacement | |
| Heart Failure | |
| Heart Failure, Diastolic | |
| Heart Failure, Right-Sided | |
| Heart Failure, Systolic | |
| Heart Inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the heart |
| Heart Neoplasm | |
| Heart Rupture, Post-Infarction | |
| Heart Valve Calcification | |
| Heart Valve Prolapse | |
| Heart Valve Stenosis | |
| Heart-Hand Syndrome, Slovenian Type | Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
| Heartwater Disease | |
| Heavy Chain Deposition Disease | |
| Heavy Drinking | |
| Heavy Metal Poisoning, Nervous System | |
| Hecht Syndrome (Disorder) | |
| Heimler Syndrome | |
| Heinz Body Anemias | |
| Helicobacter Pylori (H. Pylori) Infection In Conditions Classified Elsewhere And Of Unspecified Site | |
| Helicobacter Pylori Infection, Susceptibility To | |
| Helicobacter-Associated Gastritis | |
| Helix Syndrome | |
| Hellp Syndrome | A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. |
| Helminthiasis | |
| Hem Dysplasia | |
| Hemangioblastic Meningioma | |
| Hemangioblastoma | |
| Hemangioendothelioma | |
| Hemangioma | A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. |
| Hemangioma, Capillary Infantile | |
| Hemangiomatosis | |
| Hemangiopericytic Meningioma | |
| Hemangiopericytoma | A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. |
| Hemangiopericytoma Of Meninges | |
| Hemangiopericytoma, Malignant | |
| Hemangiosarcoma | |
| Hematological Abnormality | |
| Hematomyelia | |
| Hematuria, Benign Familial | |
| Heme Oxygenase 1 Deficiency | |
| Hemeralopia | A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. |
| Hemianopsia | Partial or complete loss of vision in one half of the visual field of one or both eyes. |
| Hemiballismus | |
| Hemichorea | |
| Hemicrania Migraine | |
| Hemifacial Hypoplasia | Unilateral underdevelopment of the facial tissues, including muscles and bones. |
| Hemifacial Microsomia | |
| Hemifacial Seizures | |
| Hemihyperplasia, Isolated | |
| Hemimegalencephaly | Enlargement of all or parts of one cerebral hemisphere. |
| Hemimelia | Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity. |
| Hemiparkinsonism | |
| Hemiplegia | |
| Hemisacrum | |
| Hemispatial Neglect | |
| Hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| Hemodialysis-Associated Amyloidosis | |
| Hemodynamic Instability | |
| Hemoglobin Bart'S Hydrops Syndrome | |
| Hemoglobin C Disease | |
| Hemoglobin D Disease | |
| Hemoglobin D Trait | |
| Hemoglobin E Disease | |
| Hemoglobin E Trait | |
| Hemoglobin E/Beta Thalassemia Disease | |
| Hemoglobin F Disease | |
| Hemoglobin H Constant Spring | |
| Hemoglobin H Disease | |
| Hemoglobin H Disease, Nondeletional | |
| Hemoglobin H Hydrops Fetalis Syndrome | |
| Hemoglobin M (Radom) Methemoglobinemia, Beta Type | |
| Hemoglobin M Disease | |
| Hemoglobin Sc Disease | |
| Hemoglobin Ss Disease With Crisis | |
| Hemoglobinuria | |
| Hemolytic Anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| Hemolytic Anemia Due To Hexokinase Deficiency | |
| Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization | |
| Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization | |
| Hemolytic Disorder | |
| Hemolytic Uremic Syndrome | |
| Hemolytic-Uremic Syndrome | Xref MGI. |
| Hemophagocytic Lymphohistiocytosis | A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. |
| Hemophagocytic Syndrome | |
| Hemophilia | |
| Hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| Hemorrhage, Intracerebral, Susceptibility To | |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts | |
| Hemorrhoids | |
| Hemosiderosis | An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. |
| Hemosiderosis, Systemic, Due To Aceruloplasminemia | |
| Hemosiderotic Fibrolipomatous Tumor | |
| Hennekam Lymphangiectasia-Lymphedema Syndrome | |
| Hennekam Lymphatngiectasia-Lymphedema Syndrome | |
| Henoch-Schönlein Nephritis | |
| Henoch-Schoenlein Purpura | |
| Henoch-Schonlein Purpura Nephritis | |
| Heparin Cofactor Ii Deficiency (Disorder) | |
| Heparin-Induced Thrombocytopenia | Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin. |
| Hepatic Adenomas, Familial | |
| Hepatic Amyloidosis | A form of amyloidosis that affects the liver. |
| Hepatic Angiomyolipoma | |
| Hepatic Artery Stenosis | |
| Hepatic Calcification | The presence of abnormal calcium deposition in the liver. |
| Hepatic Cancer Metastatic | |
| Hepatic Coma | |
| Hepatic Cyst Infection | |
| Hepatic Ductular Hypoplasia | |
| Hepatic Encephalopathy | |
| Hepatic Fibrosis And Cirrhosis | |
| Hepatic Fibrosis, Congenital | |
| Hepatic Form Of Wilson Disease | |
| Hepatic Granuloma | |
| Hepatic Hemosiderosis | |
| Hepatic Infarction | |
| Hepatic Infection | |
| Hepatic Lipase Deficiency (Disorder) | |
| Hepatic Lymphoma | |
| Hepatic Methionine Adenosyltransferase Deficiency | |
| Hepatic Osteodystrophy | |
| Hepatic Periportal Necrosis | A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. |
| Hepatic Schistosomiasis | |
| Hepatic Siderosis | |
| Hepatic Stupor | |
| Hepatic Vein Thrombosis | |
| Hepatic Veno-Occlusive Disease | |
| Hepatic Venoocclusive Disease With Immunodeficiency | |
| Hepatitis | |
| Hepatitis A | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Hepatitis B | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Hepatitis B Virus, Susceptibility To | |
| Hepatitis C | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| Hepatitis C Virus, Susceptibility To | |
| Hepatitis Cryptogenic | |
| Hepatitis D | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. |
| Hepatitis E | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. |
| Hepatitis Immune | |
| Hepatobiliary Cancer | |
| Hepatobiliary Disease | A gastrointestinal system disease that is located_in the liver and/or biliary tract. |
| Hepatobiliary Neoplasm | |
| Hepatoblastoma | |
| Hepatocarcinogenesis | |
| Hepatocellular Adenoma | A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. |
| Hepatocellular Carcinoma | A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. |
| Hepatocellular Carcinoma, Scirrhous | |
| Hepatoerythropoietic Porphyria | |
| Hepatoid Adenocarcinoma | |
| Hepatolenticular Degeneration | |
| Hepatoma Resectable | |
| Hepatoma, Morris | |
| Hepatoma, Novikoff | |
| Hepatoportal Sclerosis | |
| Hepatopulmonary Syndrome | |
| Hepatorenal Syndrome | |
| Hepatosplenic Lymphoma | |
| Hepatosplenic Schistosomiasis | |
| Hepatosplenic T-Cell Lymphoma | |
| Her-2 Positive Breast Cancer | |
| Her-2 Protein Overexpression | |
| Her2 Gene Amplification | |
| Her2-Negative Breast Cancer | |
| Her2-Positive Carcinoma Of Breast | |
| Hereditary Amyloid Nephropathy | |
| Hereditary And Idiopathic Neuropathy, Unspecified | |
| Hereditary Anemia | |
| Hereditary Angioedema | OMIM mapping confirmed by DO. [SN]. |
| Hereditary Antithrombin Deficiency | |
| Hereditary Antithrombin Iii Deficiency | |
| Hereditary Autosomal Dominant Spastic Paraplegia | |
| Hereditary Benign Telangiectasia (Disorder) | |
| Hereditary Breast And Ovarian Cancer Syndrome | |
| Hereditary Breast/Ovarian Cancer - Brca1 | |
| Hereditary Bundle Branch System Defect | |
| Hereditary C1 Esterase Inhibitor Deficiency | |
| Hereditary Cardiac Amyloidosis | |
| Hereditary Cerebral Amyloid Angiopathy, Icelandic Type | |
| Hereditary Cerebrovascular Amyloidosis | |
| Hereditary Chorea | |
| Hereditary Clear Cell Renal Cell Carcinoma | |
| Hereditary Clubbing | |
| Hereditary Coproporphyria | OMIM mapping confirmed by DO. [SN]. |
| Hereditary Corneal Dystrophy | |
| Hereditary Cystatin C Amyloid Angiopathy | |
| Hereditary Diffuse Gastric Adenocarcinoma | |
| Hereditary Diffuse Gastric Cancer | |
| Hereditary Diffuse Leukoencephalopathy With Spheroids | |
| Hereditary Disturbances In Tooth Structure, Nec In Icd9Cm_2014 | |
| Hereditary Disturbances In Tooth Structure, Not Elsewhere Classified In Icd10Cm | |
| Hereditary Edema Of Legs | |
| Hereditary Fructose Intolerance Syndrome | |
| Hereditary Gastrointestinal Stromal Tumor | |
| Hereditary Gingival Fibromatosis | Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. |
| Hereditary Glomangioma | |
| Hereditary Glucocorticoid Resistance | |
| Hereditary Hemochromatosis | |
| Hereditary Hemorrhagic Telagniectasia | |
| Hereditary Hemorrhagic Telangiectasia | An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. |
| Hereditary Hyperekplexia | |
| Hereditary Hyperexplexia | |
| Hereditary Hyperhomocysteinemia | |
| Hereditary Hypertyrosinemia | |
| Hereditary Leiomyomatosis And Renal Cell Cancer | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
| Hereditary Liability To Pressure Palsies | |
| Hereditary Lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. |
| Hereditary Macular Coloboma | |
| Hereditary Macular Dystrophy | |
| Hereditary Malignant Neoplasm | |
| Hereditary Melanoma | |
| Hereditary Motor And Sensory Neuropathy | |
| Hereditary Motor And Sensory Neuropathy, Type Iic (Disorder) | |
| Hereditary Motor Neuronopathy | |
| Hereditary Multiple Exostoses | An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. |
| Hereditary Multiple Osteochondromas | |
| Hereditary Myopathy With Early Respiratory Failure | |
| Hereditary Nephritis | |
| Hereditary Nephropathy | |
| Hereditary Neuroblastoma | |
| Hereditary Neurodegenerative Disorder | |
| Hereditary Non-Polyposis Colon Cancer Type 2 | |
| Hereditary Non-Polyposis Colorectal Cancer Syndrome | |
| Hereditary Nonpolyposis Colorectal Cancer | |
| Hereditary Nonpolyposis Colorectal Carcinoma | |
| Hereditary Oculoleptomeningeal Amyloid Angiopathy | |
| Hereditary Opalescent Dentin (Disorder) | |
| Hereditary Orotoic Aciduria | |
| Hereditary Ovarian Carcinoma | |
| Hereditary Palmoplantar Keratoderma | |
| Hereditary Pancreatitis | |
| Hereditary Papillary Renal Carcinoma | |
| Hereditary Paraganglioma | |
| Hereditary Paraganglioma-Pheochromocytoma Syndrome | |
| Hereditary Peripheral Neuropathy | |
| Hereditary Persistence Of Fetal Hemoglobin Thalassemia | |
| Hereditary Pheochromocytoma And Paraganglioma | |
| Hereditary Prostate Carcinoma | |
| Hereditary Protein S Deficiency | |
| Hereditary Pyropoikilocytosis | |
| Hereditary Renal Cancer Associated 1 | |
| Hereditary Renal Cell Carcinoma | |
| Hereditary Sensory And Autonomic Neuropathy | |
| Hereditary Sensory Autonomic Neuropathy | |
| Hereditary Sensory Radicular Neuropathy | |
| Hereditary Sideroblastic Anemia | |
| Hereditary Site-Specific Ovarian Cancer Syndrome | |
| Hereditary Spastic Paralysis, Infantile Onset Ascending | |
| Hereditary Spherocytosis | A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. |
| Hereditary Stomatocytosis | |
| Hereditary Systemic Amyloidosis | |
| Hereditary Thrombocytopenic Disorder | |
| Hereditary Vascular Fragility | |
| Hereditary Vascular Retinopathy | |
| Hereditary Wilms Tumor | |
| Hereditary X-Linked Recessive Spastic Paraplegia | |
| Herlitz Disease | |
| Hermanski-Pudlak Syndrome | |
| Hermansky-Pudlak Syndrome | An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. |
| Hermaphroditism | |
| Hernia | |
| Heroin Abuse | disease cluster belonging to disease group chemdependency |
| Heroin Dependence | An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. |
| Heroin Smoking | |
| Heroin Withdrawal | |
| Herpangina | A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. |
| Herpes Encephalitis | |
| Herpes Labialis | |
| Herpes Nos | |
| Herpes Simplex Encephalitis, Susceptibility To, 2 | |
| Herpes Simplex Meningitis | |
| Herpes Simplex Type 1 Infection | |
| Herpes Simplex Type I | |
| Herpes Zoster Ophthalmicus | |
| Herpes Zoster Oticus | |
| Herpetic Acute Necrotizing Encephalitis | |
| Herpetic Meningoencephalitis | |
| Herpetic Neuralgia | |
| Herpetiform Corneal Ulceration | The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. |
| Herpetosoma Infection | |
| Heterotaxy Syndrom | |
| Heterotaxy, Visceral | |
| Heterotopia, Periventricular | |
| Heterotopia, Periventricular, Ehlers-Danlos Variant | |
| Heterozygous Factor V Leiden Mutation | |
| Heterozygous Hemoglobinopathy | |
| Heterozygous Protein C Deficiency | |
| Heterozygous Prothrombin G20210A Mutation | |
| Hexadactyly | |
| Hexosaminidase A Deficiency, Adult Type | |
| Hexosaminidase Alpha-Subunit Deficiency (Variant B) | |
| Heyde'S Syndrome | |
| Heymann Nephritis | |
| Hfe-Associated Hereditary Hemochromatosis | |
| Hhh Syndrome | |
| Hiatal Hernia | |
| Hibernation, Myocardial | |
| Hibernoma | |
| Hidradenitis | |
| Hidradenitis Suppurativa | OMIM mapping confirmed by DO. [SN]. |
| Hidradenitis Suppurativa, Familial | |
| Hidradenoma Papilliferum | |
| Hidrocystoma | |
| Hidrotic Ectodermal Dysplasia | |
| High Altitude Cerebral Edema | |
| High Altitude Pulmonary Edema | |
| High Altitude Pulmonary Hypertension | |
| High Astigmatism | |
| High Axial Triradius | |
| High Density Lipoprotein Deficiency | |
| High Grade Astrocytic Tumor | |
| High Grade B-Cell Lymphoma | |
| High Grade B-Cell Lymphoma, Not Otherwise Specified | |
| High Grade B-Cell Non-Hodgkin'S Lymphoma | |
| High Grade Cervical Intraepithelial Neoplasia | |
| High Grade Dysplastic Nodule | |
| High Grade Glioma | |
| High Grade Intraepithelial Neoplasia | |
| High Grade Liver Dysplastic Nodule | |
| High Grade Lymphoma (Neoplasm) | |
| High Grade Sarcoma | |
| High Grade Serous Carcinoma | |
| High Grade Surface Osteosarcoma | |
| High Grade T-Cell Lymphoma | |
| High Molecular Weight Kininogen Deficiency | |
| High Output Heart Failure | |
| High Renin Hypertension | |
| High Risk Acute Myeloid Leukemia | |
| High Risk Myelodysplastic Syndrome | |
| High Turnover Bone Disease | |
| High-Frequency Sensorineural Hearing Impairment | A form of sensorineural hearing impairment that affects primarily the higher frequencies. |
| High-Functioning Autism | |
| High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements | |
| High-Grade Neuroendocrine Carcinoma Of Cervix Uteri | |
| High-Grade Prostatic Intraepithelial Neoplasia | |
| High-Grade Salivary Gland Carcinoma | |
| High-Grade Salivary Gland Mucoepidermoid Carcinoma | |
| High-Output Congestive Heart Failure | A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. |
| High-Oxygen-Affinity Hemoglobin | |
| High-Renin Essential Hypertension | |
| High-Risk Neuroblastoma | |
| Hip Contracture | Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. |
| Hip Dislocation, Congenital | |
| Hip Dysplasia | The presence of developmental dysplasia of the hip. |
| Hip Dysplasia, Beukes Type | |
| Hip Dysplasia, Congenital, Nonsyndromic | |
| Hip Infection | |
| Hip Pain Chronic | |
| Hippocampal Sclerosis | |
| Hirschsprung Disease | |
| Hirschsprung Disease Ganglioneuroblastoma | |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction | |
| Histamine Intolerance | |
| Histaminosis | |
| Histidinuria Renal Tubular Defect | |
| Histiocytic And Dendritic Cell Neoplasm | |
| Histiocytic Leukemia | |
| Histiocytic Necrotizing Lymphadenitis | |
| Histiocytic Proliferation | |
| Histiocytic Sarcoma | |
| Histiocytic Syndrome | |
| Histiocytoid Cardiomyopathy | |
| Histiocytoid Hemangioma | |
| Histiocytoma | A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH) |
| Histiocytoma, Angiomatoid Fibrous | |
| Histiocytoma, Benign Fibrous | |
| Histiocytosis | A lymphatic system disease that is characterized by an excessive number of histiocytes. |
| Histiocytosis Haematophagic | |
| Histiocytosis With Joint Contractures And Sensorineural Deafness | |
| Histiocytosis, Generalized Eruptive | |
| Histiocytosis, Langerhans-Cell | |
| Histiocytosis, Non-Langerhans-Cell | |
| Histomoniasis | |
| Histoplasmosis | A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. |
| Histoplasmosis Disseminated | |
| Hitch-Hiker Thumb | |
| Hiv Coinfection | |
| Hiv Disease Progression | disease cluster belonging to disease group infection |
| Hiv Encephalitis | |
| Hiv Encephalopathy | |
| Hiv Enteropathy | |
| Hiv Infections | |
| Hiv Lipodystrophy | |
| Hiv Peripheral Neuropathy | |
| Hiv Viraemia | |
| Hiv Wasting Syndrome | |
| Hiv-1-Associated Cognitive Motor Complex | |
| Hiv-Associated Lipodystrophy Syndrome | |
| Hiv-Associated Neurocognitive Disorder | |
| Hivep2-Related Intellectual Disability | |
| Hmg Coa Lyase Deficiency | |
| Hmn (Hereditary Motor Neuropathy) Proximal Type I | |
| Hmsn Type V | |
| Hoarding Disorder | |
| Hodgkin Disease | |
| Hodgkin Lymphoma, Lymphocyte Depletion | |
| Hodgkin Lymphoma, Nodular Lymphocyte Predominance | |
| Hodgkin'S And Non-Hodgkin'S Lymphoma | |
| Hodgkin'S Disease In Children | |
| Hodgkin'S-Like | |
| Hollow Visceral Neuropathy | |
| Holocarboxylase Synthetase Deficiency | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
| Holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate | |
| Holt-Oram Syndrome | Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
| Homocarnosinase Deficiency | |
| Homocarnosinosis | A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. |
| Homocysteine, Total Plasma, Elevated | |
| Homocysteinemia | |
| Homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| Homozygous Acute Intermittent Porphyria | |
| Homozygous Alpha Thalassemia | |
| Homozygous Factor V Leiden Mutation | |
| Homozygous Protein S Deficiency | |
| Homozygous Variegate Porphyria | |
| Honeycomb Lung | |
| Horizontal Gaze Palsy | |
| Horizontal Nystagmus | Nystagmus consisting of horizontal to-and-fro eye movements. |
| Horizontal Pendular Nystagmus | Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. |
| Horizontal Supranuclear Gaze Palsy | A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| Hormone Receptor Positive Breast Carcinoma | |
| Hormone Receptor Positive Tumor | |
| Hormone Refractory Breast Cancer | |
| Hormone Refractory Prostate Cancer | |
| Hormone Related Neoplasm/Cancer | |
| Hormone Sensitive Prostate Cancer | |
| Hormone-Dependent Prostate Cancer | |
| Hormone-Resistant Prostate Cancer | |
| Horner Syndrome | |
| Horseshoe Kidney | A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. |
| Hospital Acquired Bacterial Pneumonia | |
| Hospital Acquired Pneumonia | |
| Howell-Jolly Bodies | |
| Hoyeraal-Hreidarsson Syndrome | Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. |
| Hpfh Deletion Type | |
| Hpv Positive Oropharyngeal Squamous Cell Carcinoma | |
| Hsan Type Iv | |
| Hughes Stovin Syndrome | |
| Human Anaplasmosis | |
| Human Anaplasmosis Due To Anaplasma Phagocytophilum | |
| Human Babesiosis | |
| Human Ehrlichiosis | |
| Human Granulocytic Anaplasmosis | An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. |
| Human Herpesvirus 8 Infection | A gammaherpesvirus that contributes to the development of Kaposi sarcoma. |
| Human Immunodeficiency Virus | |
| Human Metapneumovirus Infection | |
| Human Papilloma Virus Infection | A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. |
| Human Papillomavirus | |
| Human T-Cell Lymphoma Virus Type -1 Associated Uveitis | |
| Human T-Cell Lymphotrophic Virus, Type I [Htlv-I] | |
| Human Transmissible Spongiform Encephalopathies, Inherited | |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency | |
| Humoral Hypercalcemia Of Malignancy (Disorder) | |
| Humoral Immunodeficiency | |
| Hungry Bone Syndrome | |
| Hunner'S Ulcer | |
| Hunter'S Syndrome, Mild Form | |
| Hunter'S Syndrome, Severe Form | |
| Huntington Disease | |
| Hurler-Scheie Syndrome | |
| Hurthle Cell Tumor | |
| Hutchinson'S Melanotic Freckle | |
| Hutchinson-Gilford Progeria Syndrome, Atypical | |
| Hyaline Body | |
| Hyaline Membrane Disease | |
| Hyalinizing Trabecular Adenoma | |
| Hyalinosis, Segmental Glomerular | |
| Hyalinosis, Systemic | |
| Hyaloideoretinal Degeneration Of Wagner | |
| Hyaluronidase Deficiency | |
| Hydatidiform Mole | |
| Hydatids | |
| Hydranencephaly | |
| Hydranencephaly And Abnormal Genitalia | |
| Hydranencephaly With Renal Aplasia-Dysplasia | |
| Hydratidiform Mole | |
| Hydroa Vacciniforme | |
| Hydroa Vacciniforme-Like Lymphoma | |
| Hydrocephallus | |
| Hydrocephalus | A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. |
| Hydrocephalus Syndrome | |
| Hydrolethalus Syndrome 1 | |
| Hydrometrocolpos | Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. |
| Hydronephrosis | |
| Hydronephrosis Due To Pujo | |
| Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation | |
| Hydrophthalmos | |
| Hydropic Leiomyoma | |
| Hydrops Fetalis | The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. |
| Hydrops Fetalis Due To Alpha Thalassemia | |
| Hydrops Fetalis, Non-Immune | |
| Hydrops Of Placenta | |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia | |
| Hydrorhachis | |
| Hydrosalpinx (Disease) | |
| Hydrothorax | |
| Hydroureteronephrosis | |
| Hydroxylysinuria | |
| Hydroxymethylbilane Synthase Deficiency | |
| Hydroxymethylglutaric Aciduria | |
| Hymen, Imperforate | |
| Hymenolepiasis | A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. |
| Hyper Ldl Cholesterolaemia | |
| Hyper-Igd Periodic Fever Syndrome (Hids) | |
| Hyper-Ige Recurrent Infection Syndrome | |
| Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant | |
| Hyper-Ige Syndrome | |
| Hyper-Igm Immunodeficiency Syndrome | |
| Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic | |
| Hyperaldosteronism | An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. |
| Hyperalphalipoproteinemia | An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. |
| Hyperammonemia | An increased concentration of ammonia in the blood. |
| Hyperamylasemia | |
| Hyperandrogenism | |
| Hyperbilirubinemia | |
| Hyperbilirubinemia, Hereditary | |
| Hyperbilirubinemia, Neonatal | |
| Hyperbiliverdinemia | |
| Hypercalcemia | |
| Hypercalcitoninaemia | |
| Hypercalciuria | |
| Hypercalciuria, Childhood, Self-Limiting | |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant | |
| Hypercementosis | |
| Hyperchloremia | An abnormally increased chloride concentration in the blood. |
| Hypercholanemia, Familial | |
| Hypercholesterolemia | An increased concentration of cholesterol in the blood. |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency | |
| Hypercholesterolemia, Familial | |
| Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B | |
| Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial | |
| Hyperckmia | |
| Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency | |
| Hypercupremia | |
| Hyperdiploid B Acute Lymphoblastic Leukemia | |
| Hyperekplexia | |
| Hyperekplexia And Epilepsy | |
| Hyperemia | The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).|The presence of an increased amount of blood in a part or organ; engorgement. |
| Hypereosinophilia | |
| Hyperestrogenism | |
| Hyperferritinaemia | |
| Hyperferritinemia, Hereditary, With Congenital Cataracts | |
| Hyperfibrinogenemia | |
| Hyperfibrinolysis | |
| Hypergammaglobulinemia | An increased level of gamma globulin (immunoglobulin) in the blood. |
| Hyperganglionosis | |
| Hyperglycemia | |
| Hyperglycinemia | An elevated concentration of glycine in the blood. |
| Hyperglycinemia, Lactic Acidosis, And Seizures | |
| Hyperglycinuria (Disorder) | |
| Hypergonadotropic Amenorrhea | |
| Hypergonadotropic Ovarian Failure, X-Linked | |
| Hypergranular Promyelocytic Leukemia | |
| Hyperhidrosis Palmaris Et Plantaris | |
| Hyperhomocysteinemia | An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. |
| Hyperhomocysteinemia, Thrombotic, Cbs-Related | |
| Hyperimmunoglobulin Syndrome | |
| Hyperimmunoglobulinemia D | |
| Hyperinsulinemic Hypoglycemia | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
| Hyperinsulinism | |
| Hyperisoleucinemia | |
| Hyperkalemic Distal Renal Tubular Acidosis | |
| Hyperkalemic Mineralocorticoid Resistance | |
| Hyperkalemic Periodic Paralysis | OMIM mapping confirmed by DO. [SN]. |
| Hyperkeratosis | Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. |
| Hyperkinesia | |
| Hyperkyphosis | |
| Hyperlactatemia | |
| Hyperleukocytosis | |
| Hyperlioproteinemia | |
| Hyperlipasaemia | |
| Hyperlipidemia | Abnormally high level of lipids in blood.|Conditions with excess LIPIDS in the blood. |
| Hyperlipoproteinemia | An abnormal increase in the level of lipoprotein cholesterol in the blood. |
| Hyperlysinemia | An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. |
| Hypermagnesemia | An abnormally increased magnesium concentration in the blood. |
| Hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. |
| Hypermethioninemia Due To Adenosine Kinase Deficiency | |
| Hypermetropia, Bilateral | |
| Hypermobility Syndrome | |
| Hypernatriuria | An increased concentration of sodium(1+) in the urine. |
| Hyperopia | |
| Hyperosmolality | |
| Hyperosmolar Hyperglycemic State | |
| Hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| Hyperostosis-Hyperphosphatemia Syndrome | |
| Hyperoxaluria | Increased excretion of oxalates in the urine. |
| Hyperparathyroid | |
| Hyperparathyroidism | A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. |
| Hyperpepsinogenemia I | |
| Hyperphalangy | |
| Hyperphenylalaninaemia | disease cluster belonging to disease group metabolic |
| Hyperphenylalaninemia | An increased concentration of L-phenylalanine in the blood. |
| Hyperphosphatasemia | |
| Hyperphosphatasia | |
| Hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| Hyperpipecolic Acidemia | |
| Hyperplasia | An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.|An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement. |
| Hyperpotassemia And Hypertension, Familial | |
| Hyperproinsulinemia | |
| Hyperprolactinemia | An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. |
| Hyperprolinemia | An increased concentration of proline in the blood. |
| Hyperproreninemia, Familial | |
| Hyperproteinemia | |
| Hyperprothrombinemia | disease cluster belonging to disease group cardiovascular |
| Hyperreactio Luteinalis | |
| Hyperreninemic Hypoaldosteronism | |
| Hypersegmentation Of Neutrophil Nuclei | An excessive division of the lobes of the nucleus of a neutrophil. |
| Hypersegmentation Of Proximal Phalanx Of Second Finger | Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. |
| Hypersegmentation Of Proximal Phalanx Of Third Finger | Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. |
| Hypersensitive Syndrome | |
| Hypersensitivity | An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. |
| Hypersexuality State | |
| Hypersomnia | a large group of disorders characterized by excessive daytime sleepiness |
| Hypersomnia With Periodic Respiration | |
| Hypersomnia, Post-Traumatic | |
| Hypersomnia, Recurrent | |
| Hypersomnolence, Idiopathic | |
| Hypersplenism | |
| Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Hypertension | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
| Hypertension Complicated | |
| Hypertension, Resistant To Conventional Therapy | |
| Hypertensive Nephropathy | |
| Hyperthymic State | |
| Hyperthyroid Cardiac Disease | |
| Hyperthyroidism | A thyroid gland disease that involves an over production of thyroid hormone. |
| Hyperthyroxinemia | |
| Hypertonia | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Hypertrichosis | |
| Hypertriglyceridemia | A condition of elevated levels of TRIGLYCERIDES in the blood. |
| Hypertrophic Cardiomyopathy | A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. |
| Hypertrophic Neuropathy Of Infancy | |
| Hypertrophic Obesity | |
| Hypertrophic Obstructive Cardiomyopathy | |
| Hypertrophic Olivary Degeneration | |
| Hypertrophic Osteoarthropathy | |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant | |
| Hypertrophic Pachymeningitis | |
| Hypertrophic Rhinitis | |
| Hypertrophy | Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. |
| Hypertyrosinemia | |
| Hyperuricemia | An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. |
| Hyperuricemic Nephropathy | |
| Hypervigilance | |
| Hyperviscosity Syndrome | |
| Hypervitaminosis | |
| Hyperzincemia And Hypercalprotectinemia | |
| Hypnotic Withdrawal | |
| Hypo Hdl Cholesterolaemia | |
| Hypoactive Delirium | |
| Hypoactive Sexual Desire Disorder | |
| Hypoadiponectinemia | |
| Hypoadrenocorticism, Familial | |
| Hypoalbuminemia | Reduction in the concentration of albumin in the blood. |
| Hypoaldosteronism | Abnormally reduced levels of aldosterone. |
| Hypoaldosteronism, Hyporeninemic | |
| Hypoalphalipoproteinemia, Familial | |
| Hypoalphalipoproteinemias | |
| Hypoammonemia | A decreased concentration of ammonia in the blood. |
| Hypobetalipoproteinemia, Familial, 2 | |
| Hypobetalipoproteinemia, Familial, Apolipoprotein B | |
| Hypobetalipoproteinemias | |
| Hypocalcemia | An abnormally decreased calcium concentration in the blood. |
| Hypocalcemia, Autosomal Dominant, With Bartter Syndrome | |
| Hypocalcemic Rickets | |
| Hypocalcemic Seizures | |
| Hypocalcemic Tetany | Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. |
| Hypocalcification Of Dental Enamel | |
| Hypocalciuric Hypercalcemia | |
| Hypocalciuric Hypercalcemia, Acquired | |
| Hypocalvaria | |
| Hypocarnitinaemia | |
| Hypocatalasemia | |
| Hypocellular Myelodysplastic Syndrome | |
| Hypochloremia | An abnormally decreased chloride concentration in the blood. |
| Hypocholesterolemia | An decreased concentration of cholesterol in the blood. |
| Hypochondriasis | |
| Hypochondrogenesis | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. |
| Hypochondroplasia (Disorder) | |
| Hypochromic Anemia | |
| Hypocomplementaemia | |
| Hypocomplementaemic Urticarial Vasculitis Syndrome | |
| Hypocomplementemic Urticarial Vasculitis | |
| Hypocortisolaemia | |
| Hypocortisolism Secondary To Another Disorder | |
| Hypocupremia | |
| Hypodiploid B Acute Lymphoblastic Leukemia | |
| Hypodontia | |
| Hypodontia Oligodontia With Orofacial Cleft | |
| Hypodysfibrinogenemia | |
| Hypofibrinogenemia | Decreased concentration of fibrinogen in the blood. |
| Hypogalactia | |
| Hypogammaglobulinemia | |
| Hypoganglionosis | |
| Hypoglossal Nerve Palsy | |
| Hypoglycaemic Episode | |
| Hypoglycemia | |
| Hypogonadiotropic Hypogonadism | |
| Hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| Hypogonadotropic Hypogonadism | |
| Hypohidrosis | |
| Hypoinsulinaemia (Disorder) | |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy | |
| Hypokalemia | |
| Hypomagnesemia | An abnormally decreased magnesium concentration in the blood. |
| Hypomanic Personality | |
| Hypomineralization Of Enamel Of Tooth | |
| Hypomnesia | |
| Hypomyelination | |
| Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity | |
| Hypomyelination, Global Cerebral | |
| Hyponatraemic | |
| Hypoparathyroidism | A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome | |
| Hypopharyngeal Cancer | |
| Hypopharyngeal Carcinoma | |
| Hypophosphataemic Osteomalacia | |
| Hypophosphatasia | OMIM mapping confirmed by DO. [SN]. |
| Hypophosphatemic Bone Disease | |
| Hypophosphatemic Rickets | |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary | |
| Hypophysitis | |
| Hypopigmentation Disorder | |
| Hypopigmentation-Immunodeficiency Disease | |
| Hypopigmented Scar | |
| Hypopituitarism | Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. |
| Hypoplasia | |
| Hypoplastic Left Heart Syndrome | A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. |
| Hypopnea Syndrome | |
| Hypoprebetalipoproteinemia | |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | |
| Hypoproteinemia | A decreased concentration of protein in the blood. |
| Hypoproteinemia, Hypercatabolic | |
| Hypoprothrombinemias | |
| Hyposmolality Syndrome | |
| Hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| Hyposplenism | |
| Hypotension | Blood pressure that is abnormally low. |
| Hypotestosteronism | |
| Hypothalamic Amenorrhea | |
| Hypothalamic Diabetes Insipidus | |
| Hypothalamic Dysfunction Syndromes | |
| Hypothalamic Hamartomas | |
| Hypothalamic Hypothyroidism | A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. |
| Hypothalamic Obesity | |
| Hypothalamic-Pituitary-Adrenal Axis Dysfunction | |
| Hypothyroid Goiter | |
| Hypothyroidism | A deficiency of thyroid hormone. |
| Hypotonia | |
| Hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
| Hypotriglyceridemia | An decrease in the level of triglycerides in the blood. |
| Hypotrophy Of The Small Hand Muscles | |
| Hypotropia | |
| Hypouricemia | An abnormally low level of uric acid in the blood. |
| Hypoventilation Syndrome | |
| Hypoxia-Ischemia, Brain | |
| Hypoxic Respiratory Failure | |
| Hypoxic-Ischemic Encephalopathy | |
| Hysteromyoma | |
| Iatrogenic Cushing'S Disease | |
| Iatrogenic Jakob-Creutzfeldt Disease | |
| Ichthyosiform Erythroderma, Congenital | |
| Ichthyosis | An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. |
| Ichthyosis Bullosa Of Siemens | |
| Ichthyosis Congenita | |
| Ichthyosis Follicularis | |
| Ichthyosis Hystrix | |
| Ichthyosis Vulgaris | OMIM mapping confirmed by DO. [SN]. |
| Icthyosis | |
| Ideational Apraxia | |
| Idiopathic Achalasia Of Esophagus | |
| Idiopathic Acute Pancreatitis | |
| Idiopathic Anaphylaxis | |
| Idiopathic Angioedema | |
| Idiopathic Arterial Calcification Of Infancy | |
| Idiopathic Atrophoderma Of Pasini And Pierini | |
| Idiopathic Autoimmune Hemolytic Anemia | |
| Idiopathic Basal Ganglia Calcification 1 | |
| Idiopathic Bronchiectasis | |
| Idiopathic Cardiac Hypertrophy | |
| Idiopathic Cd4 Lymphocytopenia | |
| Idiopathic Central Precocious Puberty | |
| Idiopathic Chronic Pancreatitis | disease cluster belonging to disease group immune |
| Idiopathic Crescentic Glomerulonephritis | |
| Idiopathic Diabetes (Mellitus) | |
| Idiopathic Eosinophilia | |
| Idiopathic Eosinophilic Myositis | |
| Idiopathic Eosinophilic Pneumonia | |
| Idiopathic Epilepsy | disease cluster belonging to disease group neurological |
| Idiopathic Extrahepatic Biliary Atresia | |
| Idiopathic Familial Dystonia | |
| Idiopathic Generalized Epilepsy | An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. |
| Idiopathic Granulomatous Mastitis | |
| Idiopathic Growth Hormone Deficiency | |
| Idiopathic Guttate Hypomelanosis | |
| Idiopathic Gynecomastia | |
| Idiopathic Hypercalciuria | |
| Idiopathic Hypercatabolic Hypoproteinemia | |
| Idiopathic Hypereosinophilic Syndrome | |
| Idiopathic Hyperprolactinemia | |
| Idiopathic Hypertrophic Subaortic Stenosis | |
| Idiopathic Hypogonadotropic Hypogonadism | |
| Idiopathic Hypoparathyroidism | |
| Idiopathic Hypopituitarism | |
| Idiopathic Infantile Hypercalcemia - Mild Form | |
| Idiopathic Inflammatory Myopathies | |
| Idiopathic Interstitial Pneumonias | |
| Idiopathic Juxtafoveal Retinal Telangiectasia | |
| Idiopathic Membranous Glomerulonephritis | |
| Idiopathic Membranous Glomerulopathy | |
| Idiopathic Multicentric Osteolyses | |
| Idiopathic Myoclonic Epilepsy | |
| Idiopathic Nephrotic Syndrome | |
| Idiopathic Neutropenia | |
| Idiopathic Non-Cirrhotic Portal Hypertension | |
| Idiopathic Non-Familial Dystonia | |
| Idiopathic Normal Pressure Hydrocephalus (Inph) | |
| Idiopathic Osteoarthritis | disease cluster belonging to disease group metabolic |
| Idiopathic Osteoporosis | |
| Idiopathic Parathyroidism | |
| Idiopathic Parkinsonism Or Parkinson'S Disease | |
| Idiopathic Partial Epilepsy | |
| Idiopathic Peripheral Neuropathy | |
| Idiopathic Pneumonia Syndrome | |
| Idiopathic Polypoidal Choroidal Vasculopathy | |
| Idiopathic Precocious Puberty | |
| Idiopathic Premature Ovarian Failure | disease cluster belonging to disease group reproduction |
| Idiopathic Pulmonary Arterial Hypertension | |
| Idiopathic Pulmonary Fibrosis | Chronic and progressive fibrosis of the lung parenchyma of unknown cause. |
| Idiopathic Pulmonary Hypertension | |
| Idiopathic Rapidly Progressive Glomerulonephritis | |
| Idiopathic Recurrent Pericarditis | |
| Idiopathic Retroperitoneal Fibrosis | |
| Idiopathic Scoliosis | |
| Idiopathic Thrombocytopenia | |
| Idiopathic Thrombocytopenia (Itp) | |
| Idiopathic Transverse Myelitis | |
| Idiopathic Urethral Stricture | |
| Ifn-Gamma Receptor 1 Deficiency | |
| Iga Glomerulonephritis | A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease. |
| Iga Myeloma | |
| Iga Nephropathy, Susceptibility To, 3 | |
| Iga Pemphigus | |
| Igd Myeloma | |
| Ige Responsiveness, Atopic | |
| Ige-Mediated Allergic Asthma | |
| Ige-Mediated Food Allergy | |
| Igg Deficiency Disorder | |
| Igg Myeloma | |
| Igg4-Related Hypophysitis | |
| Igg4-Related Sclerosing Cholangitis | |
| Igg4-Related Sclerosing Disease | |
| Igm Gammopathy | |
| Igm Monoclonal Gammopathy Of Uncertain Significance | |
| Iieocolitis | |
| Ileal Pouches | |
| Ileal Stenosis | |
| Ileitis | An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. |
| Ileoanal Pouches | |
| Ileocolic Intussusception | |
| Ileus | |
| Illusions, Visual | |
| Iminoglycinuria | |
| Iminoglycinuria, Digenic | |
| Immature Ovarian Teratoma | |
| Immersion Related Epilepsy | |
| Immune Complex Nephritis | |
| Immune Deficiency Disease | |
| Immune Disorders, Nervous System | |
| Immune Dysfunction With T-Cell Inactivation | |
| Immune Hemolytic Anemia | |
| Immune Hydrops Fetalis | |
| Immune Neutropenia | |
| Immune Reconstitution Inflammatory Syndrome | |
| Immune Reconstitution Inflammatory Syndrome [Iris] | |
| Immune Reconstitution Syndrome | |
| Immune Thrombocytopenic Purpura | |
| Immune-Complex Glomerulonephritis | |
| Immune-Mediated Coagulopathy | |
| Immune-Mediated Hepatitis | |
| Immunoblastic Large-Cell Lymphoma | |
| Immunodeficiency | |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome | |
| Immunoglobuin Deficiency | |
| Immunoproliferative Small Intestinal Disease | |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities | |
| Immunosuppression | |
| Impaired Cognition | |
| Impaired Glucose Tolerance In Pregnancy | |
| Impaired Insulin Secretion | |
| Impaired Myocardial Contractility | |
| Impaired Oxygen Delivery | |
| Impaired Psychomotor Development | |
| Impaired Social Reciprocity | |
| Impaired Temperature Sensation | A reduced ability to discriminate between different temperatures. |
| Impairment Level: Total Impairment Of Both Eyes (Disorder) | |
| Impairment Of Attention | |
| Imperforate Tricuspid Valve | |
| Impervious Ureter | |
| Impetigo | A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. |
| Impotence, Vasculogenic | |
| Imprinting Error | |
| Impulse-Ridden Personality | |
| Impulsive Aggression | |
| Impulsive Petit Mal Epilepsy | |
| In Situ Follicular Lymphoma | |
| In Situ Mantle Cell Neoplasia | |
| Inadequate Personality | |
| Inappropriate Acth Secretion Syndrome | |
| Inborn Aminoaciduria | |
| Incarcerated Hernia | |
| Incipient Cataract | |
| Incipient Ovarian Failure | |
| Incipient Schizophrenia | |
| Inclusion Body Myopathy | |
| Inclusion Body Myopathy, Autosomal Dominant | |
| Inclusion Body Myositis (Disorder) | |
| Incomitant Strabismus | |
| Incomplete Anencephaly, Hemicrania | |
| Incomplete Congenital Stationary Night Blindness | |
| Incomplete Male Pseudohermaphroditism | |
| Incomplete Partition Of The Cochlea | Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. |
| Incomplete Right Bundle Branch Block | |
| Incomplete Testicular Feminization Syndrome | |
| Incontinence | |
| Incontinentia Pigmenti Achromians | |
| Incontinentia Pigmenti, Atypical | |
| Increased Analgesia From Kappa-Opioid Receptor Agonist, Female-Specific (Disorder) | |
| Increased Cellularity Present | |
| Increased Drug Tolerance | |
| Increased Endomysial Connective Tissue | |
| Increased Oxygen Demand | |
| Indeterminate Atrial Arrangement | |
| Indeterminate Colitis | |
| Indeterminate Dendritic Cell Tumor | |
| Indeterminate Leprosy | A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. |
| Index Myopia | |
| Indian Childhood Cirrhosis | |
| Indifference To Pain, Congenital, Autosomal Recessive | |
| Indirect Hyperbilirubinemia, Neonatal | |
| Indolent Adult Non-Hodgkin Lymphoma | |
| Indolent Multiple Myeloma | |
| Indolent Non-Hodgkin Lymphoma | |
| Indolent Systemic Mastocytosis | |
| Indolent Ulcer | |
| Induced Apnea | |
| Induced Cataract | |
| Induced Ventricular Tachycardia | |
| Industrial Dermatosis | |
| Infanctile Encephalopathy | |
| Infant Acute Biphenotypic Leukemia | |
| Infant Acute Lymphoblastic Leukemia | |
| Infant Acute Undifferentiated Leukemia | |
| Infant Gynecomastia | |
| Infant Leukemia | |
| Infant T Acute Lymphoblastic Leukemia | |
| Infant, Very Low Birth Weight | |
| Infantile Apnea | |
| Infantile Asthma | |
| Infantile Atopic Dermatitis | |
| Infantile Cardiomyopathy | |
| Infantile Cataract | |
| Infantile Cerebellar-Retinal Degeneration | A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. |
| Infantile Constant Exotropia | |
| Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) | |
| Infantile Digital Fibromatosis | |
| Infantile Fibromatosis | |
| Infantile Fibrosarcoma | |
| Infantile Free Sialic Acid Storage Disease | |
| Infantile Gastroenteritis | |
| Infantile Globoid Cell Leukodystrophy | |
| Infantile Gm 2 Gangliosidosis | |
| Infantile Hemangioma | |
| Infantile Hypophosphatasia | |
| Infantile Liver Failure Syndrome | |
| Infantile Malignant Osteopetrosis | |
| Infantile Myofibromatosis | |
| Infantile Neuroaxonal Dystrophy | Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. |
| Infantile Neuronal Ceroid Lipofuscinosis | |
| Infantile Nystagmus Syndrome | |
| Infantile Onset Spinocerebellar Ataxia | |
| Infantile Paralysis | |
| Infantile Refsum Disease (Disorder) | |
| Infantile Sandhoff Disease | |
| Infantile Scurvy | |
| Infantile Severe Myoclonic Epilepsy | |
| Infantile Sialic Acid Storage Disease | |
| Infantile Spasm | |
| Infantile Uterus | |
| Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression | |
| Infarction Of Spinal Cord | |
| Infarction, Lacunar | |
| Infarction, Middle Cerebral Artery | |
| Infected Ascites | |
| Infected Cyst | |
| Infected Hand | |
| Infection As A Complication | |
| Infection By Ascaris Lumbricoides | |
| Infection By Aspergillus Flavus | |
| Infection By Aspergillus Fumigatus | |
| Infection By Babesia Bovis | |
| Infection By Candida Albicans | |
| Infection By Cryptococcus Neoformans | |
| Infection By Haemonchus | |
| Infection By Human Herpesvirus | |
| Infection By Larvae Of Trichinella Spiralis | |
| Infection By Leishmania Braziliensis | |
| Infection By Leishmania Infantum | |
| Infection By Polymorphus | |
| Infection By Strongyloides Stercoralis | |
| Infection By Toxocara Canis | |
| Infection By Trichuris Trichiura | |
| Infection By Trypanosoma Brucei Brucei | |
| Infection By Trypanosoma Evansi | |
| Infection By Wuchereria Bancrofti | |
| Infection Caused By Coxiella | |
| Infection Caused By Francisella | |
| Infection Caused By Helicobacter Pylori | |
| Infection Caused By Human T-Lymphotropic Virus | |
| Infection Caused By Lassa Virus | |
| Infection Caused By Loa | |
| Infection Caused By Malassezia | |
| Infection Caused By Trichinella | |
| Infection Due To Brucella Suis | |
| Infection Due To Clostridium Chauvoei | |
| Infection Due To Mycobacterium Kansasii | |
| Infection Due To Vancomycin Resistant Staphylococcus Aureus | |
| Infection In Children | |
| Infection In Solid Organ Transplant Recipients | |
| Infection Induced Asthma | |
| Infection Of Amniotic Cavity | |
| Infection Of Bone | |
| Infection Pyogenic | |
| Infections, Bunyavirus | |
| Infections, Recurrent | |
| Infectious Colitis | |
| Infectious Encephalitis | |
| Infectious Endophthalmitis | |
| Infectious Enteritis | |
| Infectious Enterocolitis | |
| Infectious Gastroenteritis | |
| Infectious Mononucleosis | A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. |
| Infectious Myelitis | |
| Infectious Myositis | |
| Infectious Otitis Media | |
| Infectious Peritonitis | |
| Infectious Pleural Effusion | |
| Infectious Pneumonitis | |
| Infectious Pustular Vulvovaginitis | |
| Infective Arthritis Of Shoulder Region | |
| Infective Cystitis | |
| Infective Dermatitis | |
| Infective Endocarditis | An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. |
| Infective Meningitis | |
| Infective Otitis Externa | |
| Infective Vaginitis | |
| Inferior Lens Subluxation | |
| Inferior Vena Cava Stenosis | |
| Inferior Wall Myocardial Infarction | |
| Infertility Tubal Factor | |
| Infestation By Bed Bug | |
| Infestation By Demodex | |
| Infiltrating Bladder Urothelial Carcinoma | |
| Infiltrating Cervical Carcinoma | |
| Infiltrating Duct And Lobular Carcinoma | |
| Infiltrating Duct Carcinoma | |
| Infiltrating Duct Carcinoma Of Female Breast | |
| Infiltrating Urothelial Carcinoma | |
| Inflammation | |
| Inflammatory Abdominal Aortic Aneurysm | |
| Inflammatory Abnormality Of The Eye | Inflammation of the eye, parts of the eye or the periorbital region. |
| Inflammatory Acne | |
| Inflammatory Arthritis | |
| Inflammatory Bowel Disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| Inflammatory Breast Carcinoma | |
| Inflammatory Cardiomyopathy | |
| Inflammatory Dermatosis | |
| Inflammatory Disorder Of Breast | |
| Inflammatory Dry Skin And Bowel Disease | |
| Inflammatory Fibrous Hyperplasia Of Mouth | |
| Inflammatory Hepatocellular Adenoma | |
| Inflammatory Joint Disease | |
| Inflammatory Leiomyosarcoma | |
| Inflammatory Linear Verrucous Epidermal Nevus | |
| Inflammatory Malignant Fibrous Histiocytoma | |
| Inflammatory Myofibroblastic Tumor | |
| Inflammatory Myopathy With Abundant Macrophages | |
| Inflammatory Neuropathy | |
| Inflammatory Polyarthritis | |
| Inflammatory Polyp | |
| Inflammatory Pseudotumor Of Liver | |
| Influenza | A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. |
| Influenza A | |
| Influenza B | |
| Influenza Nec | |
| Inguinal Hernia, Indirect | |
| Inguinal Lymphadenopathy | |
| Inhalational Anthrax | |
| Inherited Acute Myeloid Leukemia | |
| Inherited Bone Marrow Failure Syndrome | |
| Inherited Cutis Laxa | |
| Inherited Disorder Of Bilirubin Metabolism | |
| Inherited Disorder Of Folate Metabolism | |
| Inherited Disorder Of Keratinization | |
| Inherited Disorder Of Porphyrin Metabolism | |
| Inherited Epidermolysis Bullosa | |
| Inherited Factor Ii Deficiency | |
| Inherited Hearing Loss | |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency | |
| Inherited Keratosis Palmaris Et Plantaris | |
| Inherited Neuropathies | |
| Inherited Optic Neuropathy | |
| Inherited Peripheral Neuropathy | |
| Inherited Platelet Disorder | |
| Inherited Predisposition To Essential Thrombocythemia | |
| Inherited Systemic Amyloidosis | |
| Inherited Thyroxine-Binding Globulin Deficiency | |
| Iniencephaly | |
| Initial Insomnia | |
| Injury Of Liver | |
| Inorganic Mercury Poisoning | |
| Inosine Triphosphatase Deficiency | |
| Insertional Polydactyly | |
| Instability Of Atlantooccipital Joint | |
| Insufficient Sleep Syndrome | |
| Insulin Autoimmune Syndrome | |
| Insulin Hypoglycemia | |
| Insulin Lipoatrophy | |
| Insulin Receptor, Defect In | |
| Insulin Resistance | diminished effectiveness of insulin in lowering plasma glucose levels |
| Insulin Resistance In Diabetes | |
| Insulin Treated Type 2 Diabetes Mellitus | |
| Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome | |
| Insulin-Like Growth Factor I Deficiency | |
| Insulin-Resistant Diabetes Mellitus | A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels. |
| Insulinoma | A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.|A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. |
| Insulinoma, Malignant | |
| Intellectual Developmental Disorder | |
| Intercritical Gout | |
| Interface Dermatitis | |
| Interferon Gamma Receptor Deficiency | |
| Interferon Gamma, Receptor 1, Deficiency | |
| Interfrontal Craniofaciosynostosis | |
| Interleukin 1 Receptor Antagonist Deficiency | |
| Interleukin 2 Receptor, Alpha, Deficiency Of | |
| Intermediate Atypical Prostate Carcinoma | |
| Intermediate Cell Carcinoma | |
| Intermediate Grade Ductal Breast Carcinoma In Situ | |
| Intermediate Maple Syrup Urine Disease | |
| Intermediate Muscular Dystrophy | |
| Intermediate Risk Gastrointestinal Stromal Tumor | |
| Intermittent Divergent Squint | |
| Intermittent Explosive Disorder | An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. |
| Intermittent Joint Effusion | |
| Intermittent Lactic Acidemia | An intermittent (discontinuous) form of lactic acidemia. |
| Intermittent Maple Syrup Urine Disease | |
| Internal Carotid Artery Calcification | |
| Internal Carotid Artery Stenosis | |
| Internal Carotid Artery Thrombosis | |
| Internal Hydrocephalus | |
| Internal Lesion | |
| Interphalangeal Joint Contracture Of Finger | Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. |
| Interphalangeal Osteoarthritis | |
| Interrupted Aortic Arch | Non-continuity of the arch of aorta with an atretic point or absent segment. |
| Interrupted Inferior Vena Cava With Azygous Continuation | |
| Intersex Conditions | |
| Interstitial Cystitis | |
| Interstitial Disease | |
| Interstitial Granulomatous Dermatitis | |
| Interstitial Lung And Liver Disease | |
| Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital | |
| Interstitial Nephritis, Karyomegalic | |
| Intervertebral Disc Degeneration | The presence of degenerative changes of intervertebral disk. |
| Intervertebral Disk Calcification | The presence of abnormal calcium deposition of the intervertebral disk. |
| Intervertebral Disk Displacement | |
| Intestinal Adenocarcinoma | |
| Intestinal Adenocarcinoma Of The Stomach | |
| Intestinal Adenoma | |
| Intestinal Angiodysplasia | |
| Intestinal Angioedema | |
| Intestinal Atresia | |
| Intestinal Cancer | A gastrointestinal system cancer that is located_in the intestine. |
| Intestinal Carcinoid | |
| Intestinal Carcinoma | |
| Intestinal Epithelial Dysplasia | |
| Intestinal Graft Versus Host Disease | |
| Intestinal Infarction | |
| Intestinal Intraepithelial Neoplasia | |
| Intestinal Metaplasia Of Gastric Mucosa | |
| Intestinal Microsporidiosis | |
| Intestinal Necrosis | |
| Intestinal Nematode Infection | |
| Intestinal Neuroendocrine Carcinoma | |
| Intestinal Neuroendocrine Tumor | |
| Intestinal Obstruction | |
| Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis | |
| Intestinal Perforation | |
| Intestinal Polyposis | The presence of multiple polyps in the intestine. |
| Intestinal Pseudo-Obstruction | |
| Intestinal Schistosomiasis | A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. |
| Intestinal T-Cell Lymphoma | |
| Intestinal Volvulus | |
| Intestinal-Type Sinonasal Adenocarcinoma | |
| Intimal Fibrosis | |
| Intimal Sarcoma | |
| Intra-Abdominal Hypertension | |
| Intracardiac Mass | |
| Intracardiac Myxoma | |
| Intracavitary Tumors Of The Heart | |
| Intracortical Osteosarcoma | |
| Intracranial Aneurysm | |
| Intracranial Arachnoid Cysts | |
| Intracranial Arteriosclerosis | |
| Intracranial Arteriovenous Malformation | |
| Intracranial Arteriovenous Malformation, Ruptured | |
| Intracranial Astrocytoma | |
| Intracranial Atherosclerosis | |
| Intracranial Embolism And Thrombosis | |
| Intracranial Germ Cell Tumor | |
| Intracranial Germinoma | |
| Intracranial Glioma | |
| Intracranial Haemangiopericytoma | |
| Intracranial Hypertension | |
| Intracranial Hypotension | |
| Intracranial Hypotension, Essential | |
| Intracranial Hypotension, Secondary | |
| Intracranial Melanoma | |
| Intracranial Meningioma | |
| Intracranial Sinus Thrombophlebitis | |
| Intracranial Thrombosis | |
| Intracranial Tuberculoma | |
| Intractable Diarrhea | |
| Intraductal Papillary Adenocarcinoma With Invasion | |
| Intraductal Papillary Mucinous Neoplasm | |
| Intraductal Papillary-Mucinous Adenoma | |
| Intraductal Papillary-Mucinous Carcinoma, Invasive | |
| Intraductal Papilloma Of Breast | |
| Intraductal Proliferative Lesion Of The Breast | |
| Intraepithelial Neoplasia | |
| Intraepithelial Squamous Cell Carcinoma | |
| Intrahepatic Biloma | |
| Intrahepatic Cholangiocarcinoma | |
| Intrahepatic Cholangiocarcinoma Recurrent | |
| Intrahepatic Cholestasis | Xref MGI. |
| Intrahepatic Cholestasis With Episodic Jaundice | |
| Intralobar Nephroblastomatosis | |
| Intramucosal Adenocarcinoma | |
| Intramuscular Lipoma | |
| Intramuscular Myxoma | |
| Intraneural Perineurioma | |
| Intranuclear Rod Myopathy | |
| Intraocular Infection | |
| Intraocular Lymphoma | |
| Intraocular Medulloepithelioma | |
| Intraocular Pressure Disorder | |
| Intraocular Retinoblastoma | A retinoblastoma that is located_in the eye and has not spread to other parts of the body. |
| Intraoperative Hypertension | |
| Intraorbital Meningioma | |
| Intraosseous Mucoepidermoid Carcinoma | |
| Intraosseous Well Differentiated Osteosarcoma | |
| Intrapartum Fetal Hypoxia | |
| Intraspinal Neoplasm | |
| Intratubular Malignant Germ Cells | |
| Intraurothelial Neoplasia | |
| Intrauterine Adhesions | |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies | |
| Intrauterine Infection | |
| Intravascular Hemolysis | |
| Intravenous Bisphosphonates | |
| Intravenous Drug Abuse | |
| Intravenous Leiomyomatosis | |
| Intraventricular Dyssynchrony | |
| Intraventricular Meningioma | |
| Intrinsic Asthma | An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. |
| Intrinsic Factor Deficiency | |
| Intrusive Thoughts | |
| Intussusception | OMIM mapping confirmed by DO. [SN]. |
| Invasive Apocrine Breast Carcinoma | |
| Invasive Aspergillosis | An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. |
| Invasive Bacterial Infection | |
| Invasive Candidiasis | |
| Invasive Carcinoma Of Breast | |
| Invasive Cutaneous Melanoma | |
| Invasive Ductal And Lobular Carcinoma | |
| Invasive Ductal Breast Carcinoma | |
| Invasive Group A Beta-Hemolytic Streptococcal Disease | |
| Invasive Lobular Breast Carcinoma | |
| Invasive Meningococcal Disease | |
| Invasive Micropapillary Carcinoma Of Breast | |
| Invasive Mucinous Lung Adenocarcinoma | |
| Invasive Non-Typhoidal Salmonellosis | |
| Invasive Pituitary Adenoma | |
| Invasive Pneumococcal Disease, Recurrent Isolated, 1 | |
| Invasive Pneumococcal Disease, Recurrent Isolated, 2 (Disorder) | |
| Invasive Prostate Carcinoma | |
| Invasive Pulmonary Aspergillosis | |
| Invasive Streptococcus Pneumoniae Disease | |
| Inversion Of Nipple (Disorder) | |
| Inverted Papilloma | |
| Inverted Squamous Cell Papilloma | |
| Inverted Urothelial Papilloma | |
| Involucrum | |
| Involutional Depression | |
| Involutional Paraphrenia | |
| Iodide Transport Defect | |
| Iodine Deficiency Syndrome | |
| Irak4 Deficiency | |
| Iridiogoniodysgenesis | |
| Irido-Corneal Dysgenesis | |
| Irido-Corneo-Trabecular Dysgenesis (Disorder) | |
| Iridocyclitis | |
| Iridodonesis | Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. |
| Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation | |
| Iris Hypoplasia With Glaucoma | |
| Iritis | |
| Iron Deficiency | |
| Iron Loading Anemia | |
| Iron Overload | |
| Iron Overload, Autosomal Dominant | |
| Iron-Refractory Iron Deficiency Anemia | |
| Irradiation Cystitis | |
| Irrational Thoughts | |
| Irregular Capital Femoral Epiphysis | Irregular surface of the normally relatively smooth capital femoral epiphysis. |
| Irregular Carpal Bones | Carpal bones with irregular or fragmented margins. |
| Irregular Distal Femoral Epiphysis | Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. |
| Irregular Metacarpals | Irregular morphology of one or more metacarpal bones. |
| Irregular Myelin Loops | |
| Irregular Proximal Tibial Epiphyses | Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. |
| Irreversible Pulpitis | |
| Irritable Bowel Syndrome | A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.|A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. |
| Irritable Bowel Syndrome With Constipation | |
| Irritant Contact Dermatitis Due To Incontinence | |
| Irritated Basal Cell Papilloma | |
| Irvine-Gass Syndrome | |
| Isaacs Syndrome | |
| Ischaemic Cerebral Infarction | |
| Ischemia Of Kidney | |
| Ischemic Attack | |
| Ischemic Cardiomyopathy | |
| Ischemic Fasciitis | |
| Ischemic Foot | |
| Ischemic Hepatitis | |
| Ischemic Maculopathy | |
| Ischemic Myocardial Dysfunction | |
| Ischemic Nephropathy | |
| Ischemic Peripheral Neuropathy | |
| Ischemic Priapism | |
| Ischemic Stroke | |
| Ischemic Vascular Dementia | |
| Islet Cell Adenoma | |
| Islet Cell Adenomatosis | |
| Islet Cell Gastrinoma | |
| Islet Cell Tumor | A pancreatic cancer that is located_in the pancreatic islet cells. |
| Isobutyryl-Coa Dehydrogenase Deficiency | |
| Isochromosomy Yp | |
| Isodicentric Chromosome 15 Syndrome | |
| Isolated Aortic Stenosis | |
| Isolated Atp Synthase Deficiency | |
| Isolated Atrial Amyloid | |
| Isolated Blepharospasm | |
| Isolated Bone Marrow Mastocytosis | |
| Isolated Cervical Dystonia | |
| Isolated Cryptophthalmos | |
| Isolated Cystinuria | |
| Isolated Deficiency Of Pituitary Hormone | |
| Isolated Focal Cortical Dysplasia | |
| Isolated Gonadotropin Deficiency | |
| Isolated Growh Hormone Deficiency | |
| Isolated Growth Hormone Deficiency | |
| Isolated Hypoplasia Of The Right Ventricle | |
| Isolated Lutropin Deficiency (Disorder) | |
| Isolated Polycystic Liver Disease | |
| Isolated Somatotropin Deficiency | |
| Isolated Systolic Hypertension | |
| Isolated Thrombocytopenia | |
| Isomerism (Body) | |
| Isomerism Of Atrial Appendages | |
| Isomerism Of Atrial Appendages With Asplenia Or Polysplenia | |
| Isoniazid Resistant Tuberculosis | |
| Isosporiasis | |
| Isothenuria | |
| Isovaleric Acidemia, Type I | |
| Isovaleryl-Coa Dehydrogenase Deficiency | |
| Iss Stage I Plasma Cell Myeloma | |
| Itk Deficiency | |
| Ivory Epiphyses Of The Distal Phalanges Of The Hand | Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. |
| Ivory Epiphyses Of The Toes | |
| J-Pouch | |
| Jaberi-Elahi Syndrome | |
| Jaccoud'S Syndrome | |
| Jackknife Seizures | |
| Jackson-Weiss Syndrome | |
| Jacksonian Seizure | |
| Jacobsen Distal 11Q Deletion Syndrome | |
| Jalili Syndrome | |
| Jankovic Rivera Syndrome | |
| Jansen Type Metaphyseal Chondrodysplasia | |
| Japanese Encephalitis | A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. |
| Jarcho-Levin Syndrome | |
| Jaundice | Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| Jaw Cysts | |
| Jaw Keratocyst | |
| Jc Virus Granule Cell Neuronopathy | |
| Jc Virus Infection | |
| Jeavons Syndrome | |
| Jeb-I | |
| Jejunal Atresia | A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. |
| Jejunal Atresia With Microcephaly And Ocular Anomalies | |
| Jensen Syndrome | A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. |
| Jerk Nystagmus | |
| Jervell And Lange-Nielsen Syndrome 2 (Disorder) | |
| Jervell-Lange Nielsen Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Jet Lag Syndrome | |
| Jeune Thoracic Dystrophy | |
| Job Syndrome | |
| Johanson-Blizzard Syndrome | An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. |
| Joint Contracture Of The 5Th Finger | Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. |
| Joint Function Disorder | |
| Joint Laxity, Short Stature, And Myopia | |
| Joint Swelling Inflammatory | |
| Joint Tuberculosis | |
| Jones Syndrome | |
| Joubert Syndrom | |
| Joubert Syndrome | An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy). |
| Juberg-Marsidi Syndrome | |
| Junctional Epidermolysis Bullosa | Xref MGI. |
| Junctional Epidermolysis Bullosa Mitis | |
| Junctional Split | The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. |
| Juvenile Absence Epilepsy | An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. |
| Juvenile Amyotrophic Lateral Sclerosis | |
| Juvenile And Adolescent Idiopathic Scoliosis | |
| Juvenile Angiofibroma | |
| Juvenile Ankylosing Spondylitis | |
| Juvenile Arthritis | disease cluster belonging to disease group immune |
| Juvenile Astrocytoma | |
| Juvenile Cataract | A type of cataract that is not apparent at birth but that arises in childhood or adolescence. |
| Juvenile Chronic Polyarthritis | |
| Juvenile Colonic Polyposis | The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. |
| Juvenile Dermatitis Herpetiformis | |
| Juvenile Disease | |
| Juvenile Elastoma | |
| Juvenile Fibroadenoma Of Breast | |
| Juvenile Gastrointestinal Polyposis | The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. |
| Juvenile Gm 2 Gangliosidosis | |
| Juvenile Granulosa Cell Tumor | |
| Juvenile Graves' Disease | |
| Juvenile Hemochromatosis | |
| Juvenile Huntington Disease | |
| Juvenile Idiopathic Arthritis, Enthesitis Related Arthritis | |
| Juvenile Macular Degeneration | |
| Juvenile Myelomonocytic Leukemia | OMIM mapping confirmed by DO. [SN]. |
| Juvenile Myoclonic Epilepsy | A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. |
| Juvenile Myoclonic Epilepsy Of Janz | |
| Juvenile Myxedema | |
| Juvenile Nephropathic Cystinosis (Disorder) | |
| Juvenile Neuroaxonal Dystrophy | |
| Juvenile Neuronal Ceroid Lipofuscinosis | |
| Juvenile Open Angle | |
| Juvenile Ossifying Fibroma | |
| Juvenile Osteochondrosis Of Tibial Tubercle | |
| Juvenile Osteoporosis | |
| Juvenile Overlap Myositis | |
| Juvenile Pauciarticular Chronic Arthritis | |
| Juvenile Pilocytic Astrocytoma | |
| Juvenile Polymyositis | |
| Juvenile Polyp | |
| Juvenile Polyposis | disease cluster belonging to disease group other |
| Juvenile Polyposis Coli | |
| Juvenile Polyposis Syndrome | An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. |
| Juvenile Primary Osteoporosis | |
| Juvenile Psoriatic Arthritis | |
| Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease | |
| Juvenile Rheumatoid Arthritis | A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. |
| Juvenile Sandhoff Disease | |
| Juvenile Spinal Muscular Atrophy | OMIM mapping confirmed by DO. [SN]. |
| Juvenile Spondyloarthropathy | |
| Juvenile Xanthogranuloma | |
| Juvenile-Onset Dystonia | |
| Juvenile-Onset Still Disease | |
| Juvenile-Onset Vitelliform Macular Dystrophy | |
| Juxtaglomerular Cell Hyperplasia | increased number of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa |
| Juxtaglomerular Tumor | |
| K Atp Permanent Neonatal Diabetes | |
| Kabuki Make-Up Syndrome | |
| Kabuki Syndrome | Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. |
| Kahrizi Syndrome | An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. |
| Kallikrein Hypertension | |
| Kallmann Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Kandinsky Syndrome | |
| Kaposi Sarcoma | |
| Kaposi Varicelliform Eruption | |
| Kaposiform Hemangioendothelioma | |
| Karak Syndrome | |
| Kartagener Syndrome | A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. |
| Kasabach-Merritt Syndrome | |
| Kashin-Beck Disease | |
| Kaufman Oculocerebrofacial Syndrome | |
| Kaufman-Mckusick Syndrome | |
| Kayser-Fleischer Ring | Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. |
| Köbner Phenomenon | |
| Kbg Syndrome | A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. |
| Kearns-Sayre Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Keloid | A tough heaped-up scar that rises quite abruptly above the rest of the skin. It is irregularly shaped and tends to enlarge progressively. Keloids arise when there is too much collagen formed in the dermis during the repair of connective tissue. |
| Kenny-Caffey Syndrome | |
| Keppen-Lubinsky Syndrome | |
| Keratin Pearl | |
| Keratinization Of Ocular Surface | |
| Keratinopathic Ichthyosis | |
| Keratitis | |
| Keratitis Caused By Infection | |
| Keratitis Fugax Hereditaria | |
| Keratitis, Hereditary | |
| Keratitis, Herpetic | disease cluster belonging to disease group unknown |
| Keratitis-Ichthyosis-Deafness Syndrome | |
| Keratoacanthoma | |
| Keratoconjunctivitis | |
| Keratoconjunctivitis Sicca | |
| Keratoconjunctivitis, Vernal | |
| Keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| Keratoconus 9 | |
| Keratocystic Odontogenic Tumor | A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. |
| Keratoderma | |
| Keratoglobus | Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. |
| Keratolytic Winter Erythema | |
| Keratoma | |
| Keratomalacia | |
| Keratopathy | |
| Keratosis | |
| Keratosis Blennorrhagica | |
| Keratosis Follicularis | OMIM mapping confirmed by DO. [SN]. |
| Keratosis Lichenoides Chronica | |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma | |
| Keratosis Of Greither | |
| Keratosis Palmaris Et Plantaris Familiaris | |
| Keratosis Palmoplantaris Papulosa | |
| Keratosis Pillaris | |
| Kerion Celsi | |
| Kernicterus | |
| Keshan Disease | |
| Ketoacidosis Due To Acute Alcohol Intoxication | |
| Ketonuria | High levels of ketone bodies in the urine. |
| Ketosis | Presence of elevated levels of ketone bodies in the body. |
| Keutel Syndrome | |
| Ki-1+ Anaplastic Large Cell Lymphoma | |
| Kidney Calculi | |
| Kidney Cortex Necrosis | |
| Kidney Crystallization | |
| Kidney Failure | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. |
| Kidney Failure, Acute | |
| Kidney Failure, Chronic | |
| Kidney Infection Acute | |
| Kidney Neoplasm | Tumors or cancers of the KIDNEY. |
| Kidney Replacement Disorder | |
| Kienbock Disease | |
| Kimura Disease | |
| Kinesiophobia | |
| King Denborough Syndrome | |
| Kininogen Deficiency, Total | |
| Kinsbourne Syndrome | |
| Klatskin Tumor | |
| Klebsiella Oxytoca Infection | |
| Klebsiella Pneumoniae Infection | |
| Klebsiella Sepsis | |
| Kleefstra Syndrome | Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. |
| Klein'S Syndrome | |
| Kleine-Levin Syndrome | A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. |
| Klhl9-Related Early-Onset Distal Myopathy | |
| Klinefelter Syndrome | |
| Klinefelter'S Syndrome - Male With More Than Two X Chromosomes | |
| Klippel Feil Syndrome Recessive Type | |
| Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina | |
| Klippel-Feil Syndrome | A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. |
| Klippel-Trenaunay-Weber Syndrome | |
| Kluver-Bucy Syndrome | An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. |
| Knee Arthropathy | |
| Knee Joint Valgus Deformity | |
| Knee Pain Chronic | |
| Kniest Dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. |
| Knight'S Move In Thought | |
| Knobloch Syndrome | |
| Knot (Abnormality) | |
| Knuckle Pads | |
| Knuckle Pads, Leuconychia And Sensorineural Deafness | |
| Kocher-Debre-Semelaigne Syndrome | |
| Kohlschutter Tonz Syndrome | |
| Kommerell'S Diverticulum | |
| Kosaki Overgrowth Syndrome | |
| Kounis Syndrome | |
| Kowarski Syndrome | |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency | |
| Krause-Kivlin Syndrome | |
| Krukenberg Tumor | |
| Kufor-Rakeb Syndrome | |
| Kuru | |
| Kuskokwim Disease | |
| Kuskokwim Syndrome | |
| Kwashiorkor | |
| Kyasanur Forest Disease | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. |
| Kyphomelic Dysplasia | |
| Kyphoscoliosis Deformity Of Spine | |
| L-2-Hydroxyglutaric Acidemia | |
| L-2-Hydroxyglutaric Aciduria | An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). |
| L-Ferritin Deficiency | |
| L-Ferritin Deficiency, Autosomal Recessive | |
| L2 Acute Lymphoblastic Leukemia | |
| La Crosse Encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. |
| Labile Affect | |
| Labyrinthitis | A inner ear infectious disease which involves inflammation of the labyrinths. |
| Lack Of Bone Formation | |
| Lack Of Satiety | |
| Lacrimal Duct Aplasia | A congenital defect resulting in absence of the lacrimal duct. |
| Lacrimal Duct Obstruction | |
| Lacrimal Gland Carcinoma | |
| Lacrimal Mucocele | |
| Lacrimal Puncta, Absence Of | |
| Lacrimation Abnormality | Abnormality of tear production. |
| Lacrimoauriculodentodigital Syndrome | |
| Lactate Dehydrogenase Deficiency | |
| Lactational Amenorrhea | |
| Lactic Acidosis | An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. |
| Lactic Aciduria | |
| Lactose Intolerance | OMIM mapping confirmed by DO. [SN]. |
| Lactose Intolerance, Adult Type | |
| Lactose Intolerant | |
| Lafora Body Disease, Late Onset | |
| Lafora Disease | OMIM mapping confirmed by DO. [SN]. |
| Lagophthalmos | |
| Lagopthalmos | |
| Lamb-Shaffer Syndrome | |
| Lambert-Eaton Myasthenic Syndrome | A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. |
| Lamellar Ichthyosis, Type 2 | |
| Lamellar Macular Hole | |
| Lamellar Pulverulent Cataract | |
| Laminar Heterotopia | |
| Laminitis | |
| Landau-Kleffner Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Langer Mesomelic Dysplasia Syndrome | |
| Langer-Giedion Syndrome | |
| Langerhans Cell Histiocytosis Of Skin | |
| Langerhans Cell Sarcoma | A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia | |
| Large Beaked Nose | |
| Large Cell Calcifying Sertoli Cell Tumor | |
| Large Cell Carcinoma | A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. |
| Large Cell Carcinoma Of Lung | |
| Large Cell Medulloblastoma | A medulloblastoma that is characterized by cells that are larger than would be normally expected. |
| Large Cell Neuroendocrine Carcinoma | |
| Large Cell/Anaplastic Medulloblastoma | |
| Large Hyperpigmented Retinal Spots | |
| Large Intestinal Polyposis | The presence of multiple polyps in the large intestine. |
| Large-Artery Atherosclerosis (Embolus/Thrombosis) | |
| Laron Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Laron Syndrome With Elevated Serum Gh-Binding Protein | |
| Laron Syndrome With Undetectable Serum Gh-Binding Protein | |
| Larsen Syndrome | An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. |
| Larva Migrans, Cutaneous | |
| Laryngeal Amyloidosis | |
| Laryngeal Calcification | Calcification (abnormal deposits of calcium) in the laryngeal tissues. |
| Laryngeal Cleft | Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. |
| Laryngeal Dystonia | |
| Laryngeal Hypoplasia | Underdevelopment of the larynx (FMA:55097). |
| Laryngeal Neoplasm | |
| Laryngeal Papillomatosis | |
| Laryngeal Paralysis | |
| Laryngeal Sarcoma | |
| Laryngeal Small Cell Carcinoma | |
| Laryngeal Squamous Cell Carcinoma | A laryngeal carcinoma that has_material_basis_in squamous cells. |
| Laryngeal Squamous Cell Carcinoma Recurrent | |
| Laryngeal Verrucous Carcinoma | |
| Laryngeal Web | A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. |
| Laryngitis | A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. |
| Laryngomalacia | Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. |
| Laryngoonychocutaneous Syndrome | |
| Laryngopharyngeal Cancer | |
| Laryngopharyngeal Reflux | |
| Laryngospasm | |
| Laryngospasm, Severe Neonatal Episodic | |
| Laryngostenosis | |
| Laryngotracheitis | An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. |
| Laryngotracheomalacia | |
| Larynx Carcinoma Recurrent | |
| Lassa Fever | A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. |
| Late Cortical Cerebellar Atrophy | |
| Late Infantile Neuroaxonal Dystrophy | |
| Late Onset Asthma | |
| Late Onset Atopic Dermatitis | |
| Late Onset Congenital Adrenal Hyperplasia | |
| Late Onset Congenital Glaucoma | |
| Late Onset Epilepsy | |
| Late Onset Hypogammaglobulinemia | |
| Late Onset Neonatal Pneumonia | |
| Late Onset Neutropenia | |
| Late-Infantile Neuronal Ceroid Lipfuscinosis | |
| Late-Onset Focal Dermal Elastosis | |
| Late-Onset Globoid Cell Leukodystrophy | |
| Late-Onset Isolated Adrenocorticotropic Hormone Deficiency | |
| Late-Onset Junctional Epidermolysis Bullosa | |
| Late-Onset Muscular Dystrophy | |
| Late-Onset Retinal Degeneration (Disorder) | |
| Latent Autoimmune Diabetes In Adults | |
| Latent Autoimmune Diabetes Mellitus In Adult | |
| Latent Tuberculosis | |
| Lateral Developmental Cyst Of Jaw | |
| Lateral Medullary Syndrome | |
| Lateral Meningocele | |
| Lateral Meningocele Syndrome | |
| Lateral Protrusion | |
| Lateral Sclerosis | A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. |
| Lateral Sinus Thrombosis | |
| Lathosterolosis | Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. |
| Lathyrism | |
| Lattice Corneal Dystrophy | |
| Laugier-Hunziker Syndrome | |
| Laurence-Moon Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Laurin-Sandrow Syndrome | |
| Laurin-Sandrow Syndrome, Segmental | |
| Lchad Deficiency With Maternal Acute Fatty Liver Of Pregnancy | |
| Ldlr Mutation | |
| Lead Poisoning | |
| Learning Disabilities | |
| Learning Disabled | |
| Learning Disturbance | |
| Learning Problems | |
| Leber Congenital Amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| Leber Optic Atrophy And Dystonia | |
| Leber Plus Disease | |
| Lecithin Acyltransferase Deficiency | |
| Left Anterior Descending Coronary Artery Occlusion | |
| Left Anterior Fascicular Block | Conduction block in the anterior division of the left bundle branch of the bundle of His. |
| Left Atrial Appendage Thrombosis | |
| Left Atrial Dilatation | |
| Left Atrial Hypertrophy | |
| Left Atrial Isomerism | In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. |
| Left Atrial Myxoma | |
| Left Bundle-Branch Block | |
| Left Cervical Sympathetic Dystrophy | |
| Left Isomerism | |
| Left Main Coronary Artery Disease | |
| Left Main Coronary Artery Stenosis | |
| Left Posterior Fascicular Block | |
| Left Renal Agenesis | |
| Left Sided Colitis | |
| Left Sided Ulcerative Colitis | |
| Left Ventricular Aneurysm | |
| Left Ventricular Diastolic Dysfunction | |
| Left Ventricular Dilatation | |
| Left Ventricular Dyssynchrony | |
| Left Ventricular Hypertrophy | |
| Left Ventricular Hypoplasia | |
| Left Ventricular Noncompaction | |
| Left Ventricular Noncompaction Cardiomyopathy | Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. |
| Left Ventricular Outflow Tract Obstruction | |
| Left Ventricular Overload | |
| Left Ventricular Systolic Dysfunction | |
| Left Ventricular Thrombus | |
| Left-Right Axis Malformations | |
| Left-Sided Breast Neoplasms | |
| Left-Sided Heart Failure | |
| Leg Ischaemia | |
| Leg Ulcer | |
| Legg-Calve-Perthes Disease | An osteochondrosis that results_in death and fracture located_in hip joint. |
| Legionella Pneumophila Pneumonia | |
| Legionellosis | A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. |
| Legionnaire Disease, Susceptibility To | |
| Legionnaires' Disease | A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. |
| Leigh Disease | A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. |
| Leigh Syndrome Due To Mitochondrial Complex I Deficiency | |
| Leiomyoma | A cell type benign neoplasm that is a benign tumor of smooth muscle cells. |
| Leiomyomatosis | |
| Leiomyosarcoma | A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)|A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.|An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. |
| Leiomyosarcoma Of Uterus | |
| Leiomyosarcoma, Epithelioid | |
| Leiomyosarcoma, Myxoid | |
| Leishmania Donovani Disease | |
| Leishmania Infantum Disease | |
| Leishmania Mexicana Disease | |
| Leishmania Tropica Disease | |
| Leishmaniasis | Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae). |
| Lemierre Syndrome | |
| Lenegre'S Disease | |
| Length-Dependent Peripheral Neuropathy | |
| Lennox-Gastaut Syndrome | |
| Lens Subluxation | |
| Lenticonus | A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. |
| Lenticulostriate Disorders | |
| Lenticulostriate Vasculopathy | |
| Lentiginosis Profusa | |
| Lentiglobus | |
| Lentigo | |
| Lentigo Maligna Melanoma | |
| Lenz Majewski Hyperostotic Dwarfism | |
| Leopard Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Lepidic Predominant Adenocarcinoma | |
| Lepra Reaction | |
| Leprosy | A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid. |
| Leptin Deficiency Or Dysfunction | |
| Leptin Dysfunction | |
| Leptin Receptor Deficiency | |
| Leptomeningeal Neoplasms | |
| Leptomeningitis | |
| Leptospirosis | A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. |
| Leri Pleonosteosis | |
| Leri-Weill Dyschondrosteosis | |
| Lesch-Nyhan Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Lesion Of Fallopian Tube | |
| Lesion Of Rectum | |
| Lesion Of Sciatic Nerve | |
| Lesion Of Stomach | |
| Lesions In The Basal Ganglia | |
| Lethal Arthrogryposis With Anterior Horn Cell Disease | |
| Lethal Congenital Contractural Syndrome | |
| Lethal Congenital Contracture Syndrome | |
| Lethal Short-Limbed Short Stature | |
| Lethal Skeletal Dysplasia | |
| Lethal Tight Skin Contracture Syndrome (Disorder) | |
| Letterer-Siwe Disease | |
| Leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| Leukemogenesis | |
| Leukemoid Reaction | |
| Leukocoria | |
| Leukocyte Adhesion Deficiency | OMIM mapping confirmed by DO. [SN]. |
| Leukocytoclastic Vasculitis | |
| Leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| Leukoencephalitis, Acute Hemorrhagic | |
| Leukoencephalopathy | This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. |
| Leukoerythroblastic Anemia | |
| Leukokeratosis | |
| Leukokeratosis, Hereditary Mucosal | |
| Leukomalacia, Periventricular | |
| Leukopenia | decrease in no. of leukocytes |
| Leukoplakia | |
| Leukostasis | |
| Leukotriene C4 Synthase Deficiency | |
| Lewis-Sumner Syndrome | |
| Lewy Body Disease | |
| Lewy Body Variant Of Alzheimer Disease | |
| Leydig Cell Adenoma, Somatic, With Male-Limited Precocious Puberty | |
| Leydig Cell Agenesis | |
| Leydig Cell Hyperplasia | increased number of interstitial cells of the seminiferous tubules that secrete testosterone |
| Leydig Cell Hypoplasia | |
| Leydig Cell Neoplasia | |
| Leydig Cell Tumor | |
| Leydig Cell Tumor, Benign | |
| Leydig Hypoplasia | |
| Lh - Luteinizing Hormone Deficiency | |
| Lhermitte-Duclos Disease | |
| Li-Fraumeni Syndrome | An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. |
| Li-Fraumeni Syndrome 1 | |
| Li-Fraumeni-Like Syndrome | |
| Libman-Sacks Disease | |
| Lichen Disease | |
| Lichen Planus | A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known. |
| Lichen Sclerosus Et Atrophicus | |
| Lichen Simplex Chronicus | |
| Lichen Striatus | |
| Lichenoid Actinic Keratosis | |
| Lichenoid Drug Eruption | |
| Lichtenstein-Knorr Syndrome | |
| Liddle Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Lig4 Syndrome | |
| Ligamentum Flavum Hypertrophy | |
| Light Chain (Al) Amyloidosis | |
| Light Chain Disease | |
| Light Chain Myeloma | |
| Light Fixation Seizure Syndrome | |
| Light Induced Retinopathy | |
| Ligneous Conjunctivitis | |
| Limb Apraxia | |
| Limb Ischemia | |
| Limb-Girdle Muscle Atrophy | Muscular atrophy affecting the muscles of the limb girdle. |
| Limb-Girdle Muscular Dystrophy | A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. |
| Limb-Girdle Muscular Dystrophy, Type 1G (Disorder) | |
| Limb-Girdle Myopathy | |
| Limb-Mammary Syndrome | |
| Limbal Stem Cell Deficiency | |
| Limbic Encephalitis | |
| Limit-Setting Sleep Disorder | |
| Linear Atrophy | |
| Linear Iga Bullous Dermatosis | |
| Linear Scleroderma | |
| Linear Skin Defects With Multiple Congenital Anomalies | |
| Linear Verrucous Epidermal Nevus | |
| Lingual Thyroid | |
| Lingual-Facial-Buccal Dyskinesia | |
| Linitis Plastica | |
| Lip And Oral Cavity Carcinoma | |
| Lip And Oral Cavity Squamous Cell Carcinoma | |
| Lip Carcinoma | |
| Lip Hyperpigmentation | |
| Lip Pit | A depression located on a lip. |
| Lipase Deficiency Combined | |
| Lipedema | |
| Lipid Cell Tumor Of Ovary | |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency | |
| Lipid-Rich Breast Carcinoma | |
| Lipidemia Retinalis | |
| Lipoatrophic Diabetes Mellitus | |
| Lipoatrophy | Localized loss of fat tissue. |
| Lipoblastoma | |
| Lipoblastomatosis | |
| Lipodermatosclerosis | |
| Lipodystrophy | |
| Lipofibromatosis | |
| Lipofuscinosis | accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging |
| Lipogranuloma | |
| Lipohypertrophy | |
| Lipoid Congenital Adrenal Hyperplasia | |
| Lipoid Dermatoarthritis | |
| Lipoid Nephrosis | |
| Lipoid Proteinosis Of Urbach And Wiethe | |
| Lipoidosis | |
| Lipoma | A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. |
| Lipoma Of Breast | |
| Lipoma Of Corpus Callosum | |
| Lipoma, Somatic | |
| Lipomatosis | |
| Lipomatosis, Multiple Symmetrical | |
| Lipomatous Hamartoma | |
| Lipomatous Hemangiopericytoma | |
| Lipomatous Neoplasm | |
| Lipomucopolysaccharidosis | |
| Lipoprotein Disorder | |
| Lipoprotein Glomerulopathy | |
| Liposarcoma | A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.|A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)|A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors. |
| Lipoyltransferase 1 Deficiency | |
| Liquid Tumor | |
| Lissencephaly | A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. |
| Listeriosis | A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. |
| Little'S Disease | |
| Livedo Reticularis | |
| Livedoid Vasculitis | |
| Liver Abscess | The presence of an abscess of the liver. |
| Liver Abscess, Amebic | |
| Liver Abscess, Pyogenic | |
| Liver And Intrahepatic Bile Duct Epithelial Neoplasm | |
| Liver And Intrahepatic Bile Duct Neoplasm | |
| Liver And Intrahepatic Biliary Tract Carcinoma | |
| Liver Calculus | |
| Liver Carcinoma | A liver cancer that has_material_basis_in epithelial cells. |
| Liver Carcinosarcoma | |
| Liver Cirrhosis | |
| Liver Cirrhosis, Alcoholic | |
| Liver Cirrhosis, Experimental | |
| Liver Cyst | |
| Liver Disease Associated With Cystic Fibrosis | |
| Liver Disease Parenchymal | |
| Liver Dysplastic Nodule | |
| Liver Epithelioid Hemangioendothelioma | |
| Liver Failure | |
| Liver Failure, Acute | |
| Liver Failure, Infantile, Transient | |
| Liver Hyperplasia | overdevelopment or increased size of the liver, usually due an increased number of cells |
| Liver Leiomyosarcoma | A leiomyosarcoma and sarcoma of liver that is located_in the liver. |
| Liver Sarcoidosis | |
| Liver Scarring | |
| Lmna-Related Cardiocutaneous Progeria Syndrome | |
| Lobar Holoprosencephaly | A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. |
| Lobar Pneumonia | |
| Lobomycosis | A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. |
| Lobstein Disease | |
| Lobular Carcinoma In Situ Of Breast | |
| Lobular Neoplasia | |
| Lobulated Tongue | Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. |
| Localized Amyloidosis | |
| Localized Candidiasis | |
| Localized Carcinoma | |
| Localized Castleman Disease | |
| Localized Chronic Periodontitis | |
| Localized Cutaneous Leishmaniasis | |
| Localized Ewing Sarcoma | |
| Localized Lipoatrophy | |
| Localized Neuroblastoma | |
| Localized Periodontitis | |
| Localized Primitive Neuroectodermal Tumor | |
| Localized Recessive Dystrophic Epidermolysis Bullosa | |
| Localized Scleroderma | |
| Localized Vitiligo | |
| Locally Advanced Breast Cancer | |
| Locally Advanced Cervical Carcinoma | |
| Locally Advanced Malignant Neoplasm | |
| Locally Advanced Pancreatic Adenocarcinoma | |
| Locally Advanced Pancreatic Ductal Adenocarcinoma | |
| Locally Advanced Squamous Cell Carcinoma | |
| Locally Advanced Squamous Cell Carcinoma Of The Skin | |
| Locally Metastatic Malignant Neoplasm | |
| Locally Recurrent Malignant Neoplasm | |
| Locomotive Syndrome | |
| Loeffler'S Endocarditis | |
| Loeys-Dietz Aortic Aneurysm Syndrome | |
| Loeys-Dietz Syndrome | |
| Lofgrens Syndrome | |
| Logopenic Progressive Aphasia | Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. |
| Lone Atrial Fibrillation | |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | |
| Long Chain Acyl-Coa Dehydrogenase Deficiency | |
| Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency | |
| Long Distal Phalanx Of Finger | Increased length of the distal phalanx of finger. |
| Long Narrow Head | |
| Long Phalanx Of Finger | Increased length of multiple or a single phalanx of finger. |
| Long Proximal Phalanx Of Finger | Increased length of the proximal phalanx of finger. |
| Long Qt Syndrome | An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). |
| Long-Chain Dicarboxylic Aciduria | |
| Long-Segment Aganglionic Megacolon | A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. |
| Longitudinal Deficiency Of Radius | |
| Loose Anagen Hair Syndrome | |
| Lopes-Maciel-Rodan Syndrome | |
| Loss Of Cervical Lordosis | |
| Loss Of Hypoglycemic Warning | |
| Loss Of Skin Elasticity | |
| Low Anorectal Malformation | |
| Low Anterior Resection Syndrome | |
| Low Back Pain, Mechanical | |
| Low Density Lipoprotein Receptor Adaptor Protein 1 Mutation | |
| Low Density Lipoprotein Receptor Mutation | |
| Low Frequency Deafness | |
| Low Grade Appendiceal Mucinous Neoplasm | |
| Low Grade Astrocytic Tumor | |
| Low Grade B-Cell Lymphoma | |
| Low Grade B-Cell Non-Hodgkin'S Lymphoma | |
| Low Grade Central Osteosarcoma | |
| Low Grade Cervical Squamous Intraepithelial Neoplasia | |
| Low Grade Ductal Breast Carcinoma In Situ | |
| Low Grade Dysplastic Nodule | |
| Low Grade Endometrial Stromal Sarcoma | |
| Low Grade Fibromyxoid Sarcoma With Giant Collagen Rosettes | |
| Low Grade Gastric Intraepithelial Neoplasia | |
| Low Grade Glioma | |
| Low Grade Lymphoma (Neoplasm) | |
| Low Grade Malignant Neoplasm | |
| Low Grade Malignant Peripheral Nerve Sheath Tumor | |
| Low Grade Myofibroblastic Sarcoma | |
| Low Grade Prostatic Intraepithelial Neoplasia | |
| Low Grade Serous Carcinoma | |
| Low Grade Squamous Intraepithelial Neoplasia | |
| Low Molecular Weight Proteinuria With Hypercalciuria And Nephrocalcinosis | |
| Low Phospholipid-Associated Cholelithiasis | |
| Low Set Ears | |
| Low T3 Syndrome | |
| Low Tension Glaucoma | |
| Low Vision | |
| Low-Grade Fibromyxoid Sarcoma | |
| Low-Grade Salivary Gland Carcinoma | |
| Low-Output Congestive Heart Failure | |
| Low-Renin Essential Hypertension | |
| Lower Airway Obstruction | |
| Lower Eyelid Ectropion | |
| Lower Gastrointestinal Perforation | |
| Lower Respiratory Tract Inflammation | |
| Lown-Ganong-Levine Syndrome | A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. |
| Lowry Wood Syndrome | |
| Lp(A) Deficiency, Congenital | |
| Lubs X-Linked Mental Retardation Syndrome | |
| Lucey-Driscoll Syndrome (Disorder) | |
| Luft Disease | |
| Lujan Fryns Syndrome | |
| Lumbar Disc Disease | disease cluster belonging to disease group aging |
| Lumbar Hemivertebra | |
| Lumbar Hyperlordosis | An abnormal accentuation of the inward curvature of the spine in the lumbar region. |
| Lumbar Meningomyelocele | |
| Lumbar Radiculopathy | |
| Lumbar Scoliosis | |
| Lumbar Spine Degeneration | |
| Lumbar Spondylosis | |
| Lumbosacral Agenesis | |
| Lumbosacral Radiculopathy | |
| Luminal A Breast Carcinoma | |
| Luminal B Breast Carcinoma | |
| Lumpy Skin Disease | |
| Lung Abscess | |
| Lung Acinar Adenocarcinoma | |
| Lung Adenocarcinoma In Situ | |
| Lung Adenocarcinoma Recurrent | |
| Lung Cancer, Somatic | |
| Lung Cavity | |
| Lung Clear Cell Tumor | |
| Lung Cyst | |
| Lung Disease Granulomatous | |
| Lung Disease With Systemic Sclerosis | |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome | |
| Lung Hyperinflation | |
| Lung Injury | |
| Lung Large Cell Neuroendocrine Carcinoma | |
| Lung Lymphoepithelioma-Like Carcinoma | |
| Lung Melanoma | |
| Lung Non-Keratinizing Squamous Cell Carcinoma | |
| Lung Sarcoma | A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. |
| Lupus Anticoagulant Disorder | |
| Lupus Cutaneous | |
| Lupus Encephalitis | |
| Lupus Enteritis | |
| Lupus Erythematodes | |
| Lupus Erythematosus | |
| Lupus Erythematosus Overlap Syndrome | |
| Lupus Erythematosus, Subacute | |
| Lupus Flare | |
| Lupus Hepatitis | |
| Lupus Meningoencephalitis | |
| Lupus Nephritis | Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982). |
| Lupus Vasculitis | |
| Lupus Vasculitis, Central Nervous System | |
| Lupus Vulgaris | |
| Lupus-Like Syndrome | |
| Luscan-Lumish Syndrome | |
| Luteinizing Hormone Resistance, Female | |
| Lyme Arthritis | |
| Lyme Carditis | |
| Lyme Disease | A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. |
| Lyme Neuroborreliosis | |
| Lymph Node Infected | |
| Lymph Node Necrotic | |
| Lymph Node Tuberculosis | An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. |
| Lymphadenitis | |
| Lymphadenosis | |
| Lymphangiectasis | |
| Lymphangiectasis, Intestinal | |
| Lymphangioleiomyomatosis | |
| Lymphangioma | |
| Lymphangiomatosis | |
| Lymphangiosarcoma | |
| Lymphangiosis Carcinomatosa | |
| Lymphangitis | A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. |
| Lymphatic Malformation | |
| Lymphatic Metastasis | |
| Lymphedema | |
| Lymphedema Distichiasis Syndrome | |
| Lymphedema Of Lower Extremity | |
| Lymphedema Praecox | |
| Lymphedema, Microcephaly And Chorioretinopathy Syndrome | |
| Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus | |
| Lymphoblastic B-Cell Lymphoma | |
| Lymphoblastic Leukemia In Children | |
| Lymphoblastic T-Cell Lymphoma | |
| Lymphocele | |
| Lymphocystis Disease | |
| Lymphocyte Rich Classical Hodgkin Lymphoma | |
| Lymphocytic Alveolitis | |
| Lymphocytic Choriomeningitis | A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. |
| Lymphocytic Dermatitis | |
| Lymphocytic Hypopituitarism | |
| Lymphocytic Infiltration | |
| Lymphocytic Myocarditis | |
| Lymphocytic Neurohypophysitis | |
| Lymphocytosis | Increase in the number or proportion of lymphocytes in the blood. |
| Lymphoepithelial Carcinoma | |
| Lymphoepithelial Malignant Thymoma | |
| Lymphoepithelioid Lymphoma (Clinical) | |
| Lymphoepithelioma-Like Hepatocellular Carcinoma | |
| Lymphogranuloma Venereum | A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. |
| Lymphohistiocytoid Mesothelioma | |
| Lymphohistiocytosis | |
| Lymphohistiocytosis, Hemophagocytic | |
| Lymphoid Depletion | |
| Lymphoid Hyperplasia | overdevelopment or increased size, usually due to increased cell number, of lymphatic tissues |
| Lymphoid Interstitial Pneumonia | An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. |
| Lymphoid Leukemia | |
| Lymphoid Neoplasm | |
| Lymphoma | A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. |
| Lymphoma, Somatic | |
| Lymphomatoid Granulomatosis | |
| Lymphomatoid Papulosis | |
| Lymphomatoid Papulosis Type A (Cd-30 Positive Type) | |
| Lymphopenia | A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. |
| Lymphoplasmacytoid Immunocytoma | |
| Lymphoproliferative Disorder Caused By Methotrexate | |
| Lymphoproliferative Disorder Of The Skin | |
| Lymphoproliferative Syndrome | |
| Lynch Syndrome | |
| Lysine Alpha-Ketoglutarate Reductase Deficiency Disease | |
| Lysinuric Protein Intolerance | Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. |
| Lysosomal Beta-Mannosidase Deficiency | |
| M5B Acute Differentiated Monocytic Leukemia | |
| Machado-Joseph Disease | A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. |
| Macroalbuminuric Diabetic Nephropathy | |
| Macroangiopathy | |
| Macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| Macrocytic Dyserythropoietic Anemia | |
| Macrocytosis | condition in which erythrocytes are larger than normal in size |
| Macrodactyly | Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. |
| Macrodactyly, Somatic | |
| Macrodontia | Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. |
| Macroencephaly | |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 | |
| Macroglossia | Increased length and width of the tongue. |
| Macroorchidism | The presence of abnormally large testes. |
| Macrophage Activation Syndrome | |
| Macrophagic Myofasciitis | |
| Macrophagic Myofascitis | |
| Macrophthalmia, Colobomatous, With Microcornea | |
| Macroprolactinemia | |
| Macroprolactinoma | |
| Macrostomia | |
| Macrothrombocytopenia | |
| Macrothrombocytopenia And Progressive Sensorineural Deafness | |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related | |
| Macrothrombocytopenia-Stomatocytosis, Mediterranean | |
| Macrotia | Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). |
| Macrovascular Disease | |
| Macular Amyloidosis | |
| Macular Corneal Dystrophy | A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. |
| Macular Corneal Dystrophy Type Ii (Disorder) | |
| Macular Cutaneous Amyloidosis | |
| Macular Degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| Macular Dystrophy | Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. |
| Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | |
| Macular Edema, Cystoid | |
| Macular Fibrosis | |
| Macular Holes | |
| Macular Hyperpigmentation | Increased amount of pigmentation in the macula lutea. |
| Macular Pseudohole | |
| Macular Retinal Edema | |
| Macular Schisis | |
| Maculopathy With Diabetes Mellitus | |
| Mad Hatter Disease | |
| Madarosis Of Eyebrow | |
| Madelung Deformity | An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. |
| Maffucci Syndrome | |
| Magnesium Deficiency | |
| Magt1 Deficiency | |
| Mainzer-Saldino Disease | |
| Majeed Syndrome | |
| Majewski Syndrome | |
| Major Affective Disorder | |
| Major Congenital Anomaly | |
| Major Depression, Single Episode | |
| Major Depressive Disorder | An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. |
| Major Histocompatibility Complex Class Ii Deficiency | |
| Major Neurocognitive Disorder | |
| Major Psychiatric Illness | |
| Major Salivary Gland Carcinoma | |
| Malan Overgrowth Syndrome | |
| Malar Flattening | Underdevelopment of the malar (frontal) process of the maxilla, appreciated in profile and/or by palpation. |
| Malaria | A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.|Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.|A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.|An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. |
| Malaria Relapse | |
| Malaria, Cerebral, Susceptibility To (Finding) | |
| Malaria, Susceptibility To (Finding) | |
| Malassez' Epithelial Rests | |
| Malassezia Folliculitis | |
| Malattia Leventinese | |
| Male Accessory Gland Infection | |
| Male Germ Cell Tumor | |
| Male Germ Cell Tumor, Somatic | |
| Male Infertility With Large-Headed, Multiflagellar, Polyploid Spermatozoa | |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation | |
| Male Pseudohermaphroditism | Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. |
| Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase | |
| Male Sexual Dysfunction | |
| Malformations Of Cortical Development | |
| Malformed Lacrimal Duct | |
| Malignancy-Associated Membranous Nephropathy | |
| Malignant Adult Brain Neoplasm | |
| Malignant Ameloblastoma | |
| Malignant Ascites | |
| Malignant Atrophic Papulosis | |
| Malignant Basal Cell Tumor | |
| Malignant Biliary Obstruction | |
| Malignant Blue Nevus Of Skin | |
| Malignant Bone Neoplasm | |
| Malignant Carcinoid Syndrome | |
| Malignant Central Nervous System Neoplasm | |
| Malignant Childhood Central Nervous System Neoplasm | |
| Malignant Childhood Hemangiopericytoma | |
| Malignant Childhood Neoplasm | |
| Malignant Chondroid Syringoma | |
| Malignant Cystosarcoma Phyllodes | |
| Malignant Desmoplastic Melanoma | |
| Malignant Eccrine Spiradenoma | |
| Malignant Epithelial Neoplasm Of Lung | |
| Malignant Epithelial Neoplasm Of Thyroid | |
| Malignant Epithelial Tumor Of Ovary | |
| Malignant Epithelioma | |
| Malignant Essential Hypertension | |
| Malignant Female Reproductive System Neoplasm | |
| Malignant Fibrous Histiocytoma | Undifferentiated pleomorphic sarcoma (UPS) is an aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis. |
| Malignant Genitourinary Tract Tumor | The presence of a malignant neoplasm of the genital system. |
| Malignant Germ Cell Neoplasm | |
| Malignant Giant Cell Tumor Of Bone | |
| Malignant Glaucoma | |
| Malignant Glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| Malignant Granular Cell Tumor | |
| Malignant Granulosa Cell Tumor | |
| Malignant Head And Neck Neoplasm | |
| Malignant Histiocytosis | |
| Malignant Hyperpyrexia Due To Anesthesia | |
| Malignant Hypertension | |
| Malignant Hyperthermia Susceptibility | |
| Malignant Lipomatous Neoplasm | |
| Malignant Lymphoma | |
| Malignant Melanoma | |
| Malignant Meningioma | |
| Malignant Mesenchymal Tumor | |
| Malignant Mesothelioma | A cell type cancer that has_material_basis_in mesothelial tissue. |
| Malignant Mesothelioma Of Peritoneum | |
| Malignant Mixed Mesodermal (Mullerian) Tumor | |
| Malignant Mixed Salivary Gland Tumor | |
| Malignant Myoepithelioma | |
| Malignant Neoplasm | |
| Malignant Neoplasm Of Bone Marrow | |
| Malignant Neoplasm Of Breast | |
| Malignant Neoplasm Of Head Of Pancreas | |
| Malignant Neoplasm Of Large Intestine | |
| Malignant Neoplasm Of Lateral Wall Of Oropharynx | |
| Malignant Neoplasm Of Lung - Multiple Primary Sites | |
| Malignant Neuroendocrine Tumor | |
| Malignant Odontogenic Tumor | |
| Malignant Ovarian Germ Cell Neoplasm | |
| Malignant Ovarian Sex Cord-Stromal Tumor | |
| Malignant Ovarian Teratoma | |
| Malignant Ovarian Thecoma | |
| Malignant Pancreatic Insulinoma | |
| Malignant Paraganglionic Neoplasm | |
| Malignant Peripheral Nerve Sheath Tumor | Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.|An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1). |
| Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation | |
| Malignant Phyllodes Tumor Of Breast | |
| Malignant Phyllodes Tumor Of Prostate | |
| Malignant Placental Neoplasm | |
| Malignant Pleural Mesothelioma | A pleural cancer that has_material_basis_in mesothelium cells. |
| Malignant Pleurisy | |
| Malignant Proliferating Pilar Tumor | |
| Malignant Rhabdoid Tumor, Somatic | |
| Malignant Smooth Muscle Neoplasm | |
| Malignant Solid Neoplasm | |
| Malignant Squamous Cell Neoplasm | |
| Malignant Syndrome Nos | |
| Malignant Tenosynovial Giant Cell Tumor | |
| Malignant Testicular Germ Cell Tumor | |
| Malignant Tumor Of Anterior Wall Of Nasopharynx | |
| Malignant Tumor Of Cervix | |
| Malignant Tumor Of Colon | |
| Malignant Tumor Of Exocrine Pancreas | |
| Malignant Tumor Of Extrahepatic Bile Duct | |
| Malignant Tumor Of Eye | |
| Malignant Tumor Of Greater Curve Of Stomach | |
| Malignant Tumor Of Lateral Wall Of Nasopharynx | |
| Malignant Tumor Of Lesser Curve Of Stomach | |
| Malignant Tumor Of Mediastinum | |
| Malignant Tumor Of Parathyroid Gland | |
| Malignant Tumor Of Peritoneum | |
| Malignant Tumor Of Posterior Wall Of Nasopharynx | |
| Malignant Tumor Of Renal Pelvis | |
| Malignant Tumor Of Small Intestine | |
| Malignant Tumor, Fusiform Cell Type | |
| Malignant Tumor, Giant Cell Type | |
| Malignant Tumour Of Parotid Gland | |
| Malignant Uterine Corpus Neoplasm | |
| Malignant Vaginal Neoplasm | |
| Malignant Vipoma | |
| Malnutrition | |
| Malocclusion | |
| Malonic Aciduria | |
| Malouf Syndrome | |
| Malpuech Facial Clefting Syndrome | |
| Malrotation Of Colon | An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. |
| Malrotation Of Kidney | |
| Mammary Adenocarcinoma | |
| Mammary Analog Secretory Carcinoma Of Salivary Gland | |
| Mammary Carcinoma | |
| Mammary Gland Tumor | |
| Mammary Neoplasms | |
| Mandibular Hyperostosis | Hyperostosis (bony overgrowth) of the mandible. |
| Mandibular Retrognathism | |
| Mandibular Retrusion | |
| Mandibuloacral Dysostosis | |
| Mandibuloacral Dysplasia With Type B Lipodystrophy | |
| Mandibulofacial Dysostosis | |
| Mandibulofacial Dysostosis With Alopecia | |
| Mandibulofacial Dysostosis With Mental Retardation | |
| Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive | |
| Manganese Deficiency | |
| Manganese Poisoning | |
| Mange, Sarcoptic | |
| Manic | |
| Manifest Vertical Squint | |
| Manifest-Latent Nystagmus | |
| Mannose-Binding Protein Deficiency | |
| Mansonelliasis | A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. |
| Mantle Cell Lymphoma | A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. |
| Mantle Cell Lymphoma Refractory | |
| Mantle Lymphoma | |
| Mantleoma | |
| Manz Syndrome | |
| Maple Syrup Urine Disease | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
| Marasmus | |
| Marburg Virus Disease | |
| Marcus Gunn Phenomenon | |
| Marden Walker Like Syndrome | |
| Marden-Walker Syndrome | Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. |
| Marek Disease | |
| Marfan Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Marfanoid Hypermobility Syndrome | |
| Marginal Corneal Dystrophy | |
| Marginal Ulcer | |
| Marginal Zone B-Cell Lymphoma | A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. |
| Marginal Zone Lymphoma Refractory | |
| Marie Cerebellar Ataxia | |
| Marie Unna Congenital Hypotrichosis | |
| Marie Unna Hereditary Hypotrichosis | Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. |
| Marijuana Abuse | |
| Marijuana Use | |
| Marinesco-Sjogren Syndrome | |
| Marinesco-Sjogren-Like Syndrome (Msls) | |
| Markedly Reduced Food Intake | |
| Marles Greenberg Persaud Syndrome | |
| Maroteaux-Lamy Syndrome, Mild Form | |
| Marrow Hypercellular | |
| Marshall Syndrome | |
| Marshall-Smith Syndrome | A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. |
| Marshall/Stickler Syndrome | |
| Marsili Syndrome | |
| Martin-Probst Deafness-Mental Retardation Syndrome | |
| Martinez-Frias Syndrome | |
| Martsolf Syndrome | |
| Masa Syndrome (Disorder) | |
| Masp2 Deficiency | |
| Mass Lesion Of Brain | |
| Mass Of Thyroid Gland | |
| Massive Calcification In Paraplegic | |
| Massive Osteolyses | |
| Mast Cell Aggregation | |
| Mast Cell Malignancy | |
| Mast Cell Neoplasm | A hematologic cancer that has_material_basis_in mast cells. |
| Mast Syndrome | A hereditary spastic paraplegia associated with dementia. |
| Mast-Cell Sarcoma | |
| Masticatory Muscles, Hypertrophy Of | |
| Mastitis | |
| Mastocytoma | |
| Mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| Mastoiditis | A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. |
| Maternal Autoimmune Disease | |
| Maternal Hyperglycemia | |
| Maternal Hypertension | Increased blood pressure during a pregnancy. |
| Maternal Hypotension | |
| Maternal Hypothyroidism | |
| Maternal Sepsis | |
| Maternal Uniparental Disomy Of Chromosome 1 | |
| Maternal Uniparental Disomy Of Chromosome 20 | |
| Maternally Inherited Leigh Syndrome | |
| Mature B-Cell Neoplasm | |
| Mature B-Cell Non-Hodgkin Lymphoma | |
| Mature Cataract | |
| Mature T All | |
| Mature Teratoma | |
| Maturity-Onset Diabetes | |
| Mauriac'S Syndrome | |
| Maxillary Retrusion | |
| Maxillary Sinus Carcinoma | |
| Maxillary Sinus Squamous Cell Carcinoma | |
| Maxillary Sinusitis | A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. |
| Maxillofacial Abnormalities | |
| Maxillonasal Dysplasia, Binder Type | |
| May-Thurner Syndrome | |
| May-White Syndrome | |
| Mcardle Disease, Mild | |
| Mccune-Albright Syndrome | |
| Mcleod Neuroacanthocytosis Syndrome | McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. |
| Mda5 Deficiency | |
| Mds Transformation | |
| Meacham Syndrome (Disorder) | |
| Measles | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. |
| Measles With Complication | |
| Mechanical Phlebitis | |
| Meckel Diverticulum | |
| Meckel Syndrome | An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis. |
| Meckel-Gruber Syndrome | |
| Meconium Ileus | Obstruction of the intestine due to abnormally thick meconium. |
| Meconium Peritonitis | |
| Medial Flaring Of The Eyebrow | An abnormal distribution of eyebrow hair growth in the medial direction. |
| Median Cleft Lip | A type of cleft lip presenting as a midline (median) gap in the upper lip. |
| Median Cleft Lip And Palate | Cleft lip or palate affecting the midline region of the palate. |
| Median Cleft Palate | Cleft palate of the midline of the palate. |
| Median Neuropathy | |
| Mediastinal B-Cell Lymphoma | |
| Mediastinal Cyst | |
| Mediastinal Germ Cell Tumor | |
| Mediastinal Hodgkin Lymphoma | |
| Mediastinal Leiomyosarcoma | |
| Mediastinal Lymphadenopathy | Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. |
| Mediastinal Lymphangioma | |
| Mediastinal Lymphoma | |
| Mediastinal Myeloid Sarcoma | |
| Mediastinal Paraganglioma | |
| Mediastinal Seminoma | |
| Mediastinal Teratoma | |
| Mediastinitis | |
| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | |
| Medulary Carcinoma | |
| Medullary Carcinoma With Lymphoid Stroma Of Breast | |
| Medullary Cystic Disease | |
| Medullary Cystic Kidney Disease | |
| Medullary Neoplasms | |
| Medullary Nephrocalcinosis | |
| Medullary Sponge Kidney | |
| Medullary Sponge Kidney Disease | disease cluster belonging to disease group renal |
| Medullary Thyroid Cancer | |
| Medulloblastoma | A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)|A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus) |
| Medulloepithelioma | |
| Medullomyoblastoma | |
| Meester-Loeys Syndrome | |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations | |
| Megacalycosis | |
| Megaconial Myopathies | |
| Megacystis Microcolon Intestinal Hypoperistalsis Syndrome | |
| Megaduodenum | |
| Megaduodenum And-Or Megacystis | |
| Megaepiphyseal Dwarfism | |
| Megaesophagus | |
| Megakaryoblastic Acute Myeloid Leukemia With T(1;22)(P13;Q13) | |
| Megakaryocytic Hyperplasia | |
| Megakaryocytic Neoplasm | |
| Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | |
| Megalencephalic Leukoencephalopathy | |
| Megalencephaly Cutis Marmorata Telangiectatica Congenita | |
| Megalencephaly, Autosomal Dominant | |
| Megalencephaly, Polymicrogyria, Postaxial Polydactyly, Hydrocephalus Syndrome | |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome | |
| Megaloblastic Anemia | A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. |
| Megalocytic Interstitial Nephritis | |
| Megaureter | |
| Meibomian Cyst | |
| Meibomian Gland Dysfunction | |
| Meier Blumberg Imahorn Syndrome | |
| Meier-Gorlin Syndrome | An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. |
| Meige Syndrome | A cranio-facial dystonia that is accompanied by blepharospasm. |
| Meigs Syndrome | |
| Melancholia | |
| Melanocytic Neoplasm | |
| Melanocytic Nevus | A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. |
| Melanocytic Nevus Of Skin | |
| Melanocytoma | |
| Melanoderma (Disorder) | |
| Melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| Melanomatosis | |
| Melanosis | |
| Melanosis Coli | |
| Melanosis, Universal | |
| Melanotic Malignant Nerve Sheath Tumor | |
| Melanotic Medulloblastoma | |
| Melanotic Neurilemmoma | |
| Melas Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Melatonin Deficiency | |
| Meleda Disease | |
| Melioidosis | A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. |
| Melkersson-Rosenthal Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Melnick-Needles Syndrome | |
| Melorheostosis | An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. |
| Melorheostosis With Osteopoikilosis | Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. |
| Melorheostosis, Isolated | |
| Membranoproliferative Glomerulonephritis | |
| Membranous Conjunctivitis | |
| Membranous Glomerulonephritis | |
| Membranous Lupus Nephritis | |
| Membranous Ventricular Septum Defect | |
| Memory Disorders | |
| Memory Dysfunction | |
| Mend Syndrome | |
| Mendelson Syndrome | |
| Meniere Disease | |
| Meningeal Carcinomatosis | |
| Meningeal Gliomatosis | |
| Meningeal Melanoma | |
| Meningeal Melanomatosis | |
| Meningioangiomatosis | |
| Meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| Meningioma Of Optic Nerve Sheath | |
| Meningioma, Benign, No Icd-O Subtype | |
| Meningiomas, Multiple | |
| Meningitis | Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. |
| Meningocele | |
| Meningococcal Bacteraemia | |
| Meningococcal Conjunctivitis | |
| Meningococcal Meningitis | |
| Meningococcemia | |
| Meningoencephalitis | A central nervous system disease that involves encephalitis which occurs along with meningitis. |
| Meningoencephalocele | |
| Meningoencephalomyelitis | |
| Meningomyelocele | |
| Meningothelial Meningioma | |
| Meniscal Degeneration | |
| Menkes Kinky Hair Syndrome | |
| Menopausal Depression | |
| Menopausal Syndrome | |
| Menstrual Epilepsy | |
| Menstruation, Retrograde | |
| Mental Condensation | |
| Mental Deficiency | |
| Mental Depression | |
| Mental Disorders, Severe | |
| Mental Handicap | |
| Mental Impairment | |
| Mental Retardation | |
| Mental Status Changes | |
| Mercaptolactate-Cysteine Disulfiduria | |
| Mercurial Neuroanesthenia | |
| Mercury Encephalopathy | |
| Mercury Poisoning | |
| Mercury Poisoning, Nervous System | |
| Mercury Poisoning, Organic | |
| Mercury Psychosis | |
| Meretoja Syndrome | |
| Merkel Cell Carcinoma | |
| Merkel Cell Polyomavirus Infection | |
| Merrf Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Mesangial Abnormality | An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. |
| Mesangial Proliferative Glomerulonephritis | |
| Mesangioproliferative Glomerulonephritis | |
| Mesatipellic Pelvis | |
| Mesencephalic Neoplasms | |
| Mesenchymal Cell Neoplasm | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. |
| Mesenchymal Chondrosarcoma | |
| Mesenchymal Glioblastoma | |
| Mesenchymoma | |
| Mesenteric Cyst | |
| Mesenteric Infarction | |
| Mesenteric Lymphadenitis | |
| Mesenteric Panniculitis | |
| Mesenteric Vascular Insufficiency | |
| Mesenteric Vascular Occlusion | |
| Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis | |
| Mesial Temporal Sclerosis | |
| Mesoaxial Foot Polydactyly | The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. |
| Mesoaxial Hand Polydactyly | The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. |
| Mesoaxial Polydactyly | The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. |
| Mesoblastic Nephroma | A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. |
| Mesoblastic Nephroma, Cellular | |
| Mesocardia | Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. |
| Mesomelia | Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. |
| Mesomelia-Synostoses Syndrome | Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. |
| Mesomelic Dysplasia | |
| Mesonephroma | |
| Mesothelioma | A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.|A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed) |
| Mesothelioma Malignant Advanced | |
| Mesothelioma Malignant Recurrent | |
| Mesothelioma, Biphasic, Malignant | |
| Mesothelioma, Cystic | |
| Metabolic Acidosis, Nag, Acidifying Salts | |
| Metabolic Alkalosis | |
| Metabolic Disorder, Central Nervous System, Acquired | |
| Metabolic Disturbance | |
| Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration | |
| Metabolic Syndrome X | OMIM mapping confirmed by DO. [SN]. |
| Metacarpal 4-5 Fusion | |
| Metacarpal Synostosis | Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). |
| Metacarpophalangeal Synostosis | Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. |
| Metachondromatosis | Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
| Metachromatic Leukodystrophy | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency | |
| Metachromatic Leukodystrophy Variant | |
| Metachromatic Leukodystrophy, Adult-Type (Disorder) | |
| Metachromatic Leukodystrophy, Infant | |
| Metachromatic Leukodystrophy, Juvenile Type | |
| Metallosis | |
| Metanephric Adenoma | |
| Metaphyseal Anadysplasia | |
| Metaphyseal Anadysplasia 1, Autosomal Dominant | |
| Metaphyseal Chondrodysplasia | An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. |
| Metaphyseal Chondrodysplasia With Retinitis Pigmentosa | |
| Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly | |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly | |
| Metaphyseal Enchondromatosis | |
| Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria | |
| Metaplastic Carcinoma | |
| Metaplastic Carcinoma Of Breast | |
| Metaplastic Gastritis | |
| Metaplastic Squamous Cell Carcinoma | |
| Metastases To Abdominal Cavity | |
| Metastases To Adrenals | |
| Metastasis From Malignant Tumor Of Prostate | |
| Metastasizing Leiomyoma | |
| Metastatic Adrenal Gland Pheochromocytoma | |
| Metastatic Basal Cell Carcinoma | |
| Metastatic Bile Duct Carcinoma | |
| Metastatic Bladder Urothelial Carcinoma | |
| Metastatic Breast Carcinoma | |
| Metastatic Carcinoma In The Liver | |
| Metastatic Carcinoma In The Lung | |
| Metastatic Carcinoma To The Uterine Cervix | |
| Metastatic Castration-Resistant Prostate Cancer | |
| Metastatic Cervical Squamous Cell Carcinoma, Not Otherwise Specified | |
| Metastatic Childhood Soft Tissue Sarcoma | |
| Metastatic Colon Carcinoma | |
| Metastatic Colorectal Carcinoma | |
| Metastatic Dermatofibrosarcoma Protuberans | |
| Metastatic Ductal Breast Carcinoma | |
| Metastatic Endometrial Carcinoma | |
| Metastatic Esophageal Carcinoma | |
| Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | |
| Metastatic Ewing'S Sarcoma | |
| Metastatic Fibrolamellar Carcinoma | |
| Metastatic Gastric Adenocarcinoma | |
| Metastatic Gastric Carcinoma | |
| Metastatic Gastroesophageal Adenocarcinoma | |
| Metastatic Gastrointestinal Adenocarcinoma | |
| Metastatic Gastrointestinal Stromal Tumor | |
| Metastatic Genitourinary System Carcinoma | |
| Metastatic Glioma | |
| Metastatic Head And Neck Squamous Cell Carcinoma | |
| Metastatic Hepatocellular Carcinoma | |
| Metastatic Human Epidermal Growth Factor 2 Positive Carcinoma Of Breast | |
| Metastatic Intraocular Melanoma | |
| Metastatic Leiomyosarcoma | |
| Metastatic Lobular Breast Carcinoma | |
| Metastatic Lung Adenocarcinoma | |
| Metastatic Lung Carcinoma | |
| Metastatic Lung Non-Small Cell Carcinoma | |
| Metastatic Lung Non-Squamous Non-Small Cell Carcinoma | |
| Metastatic Malignancy | |
| Metastatic Malignant Germ Cell Tumor | |
| Metastatic Malignant Neoplasm In The Viscera | |
| Metastatic Malignant Neoplasm To Brain | |
| Metastatic Malignant Neoplasm To The Leptomeninges | |
| Metastatic Malignant Neoplasm To The Thyroid | |
| Metastatic Malignant Peripheral Nerve Sheath Tumor | |
| Metastatic Malignant Solid Neoplasm | |
| Metastatic Melanoma | |
| Metastatic Neoplasm To The Gallbladder | |
| Metastatic Neuroblastoma | |
| Metastatic Non-Small Cell Carcinoma | |
| Metastatic Non-Small Cell Lung Cancer | |
| Metastatic Ocular Melanoma | |
| Metastatic Oral Cavity Squamous Cell Carcinoma | |
| Metastatic Osteosarcoma | |
| Metastatic Pancreatic Neuroendocrine Carcinoma | |
| Metastatic Paraganglioma | |
| Metastatic Parathyroid Cancer | |
| Metastatic Penile Cancer | |
| Metastatic Pheochromocytoma | |
| Metastatic Prostate Carcinoma | |
| Metastatic Renal Carcinoma | |
| Metastatic Renal Cell Cancer | |
| Metastatic Renal Cell Carcinoma | |
| Metastatic Seminoma | |
| Metastatic Small Cell Carcinoma | |
| Metastatic Soft Tissue Sarcoma | |
| Metastatic Squamous Cell Carcinoma Of The Oropharynx | |
| Metastatic Thymic Carcinoma | |
| Metastatic Urothelial Carcinoma | |
| Metatarsal Valgus | |
| Metatarsus Varus | |
| Metatropic Dwarfism | |
| Metatropic Dysplasia | Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. |
| Methamphetamine Abuse | disease cluster belonging to disease group chemdependency |
| Methamphetamine Dependence | disease cluster belonging to disease group chemdependency |
| Methamphetamine Intoxication | |
| Methemoglobinemia | |
| Methylcobalamin Deficiency, Cblg Type | |
| Methylcrotonyl-Coa Carboxylase Deficiency | |
| Methylenetetrahydrofolate Reductase Deficiency | |
| Methylenetetrahydrofolate Reductase Gene Mutation | |
| Methylenetetrahydrofolate Reductase Polymorphism | |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | |
| Methylmalonic Acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Methylmalonic Aciduria | |
| Methylmalonyl-Coa Epimerase Deficiency | |
| Methylmalonyl-Coenzyme A Mutase Deficiency | |
| Metopic Depression | |
| Metopic Suture Patent To Nasal Root | The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. |
| Metopic Synostosis | Premature fusion of the metopic suture. |
| Mevalonic Aciduria | OMIM mapping confirmed by DO. [SN]. |
| Mgmt-Methylated Glioblastoma | |
| Mgmt-Unmethylated Glioblastoma | |
| Michelin Tire Baby Syndrome | |
| Microalbuminuric Diabetic Nephropathy | |
| Microaneurysm | |
| Microangiopathic Hemolytic Anemia | |
| Microangiopathy, Diabetic | disease cluster belonging to disease group other |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I | |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii | |
| Microcephalic Primordial Dwarfism Alazami Type | |
| Microcephaly | OMIM mapping confirmed by DO. [SN]. |
| Microcephaly-Digital Anomalies Syndrome | |
| Microcolon | A colon of abnormally small caliber. |
| Microcoria | |
| Microcornea | A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma | |
| Microcornea, Rod-Cone Dystrophy, Cataract, Posterior Staphyloma Syndrome | |
| Microcystic Meningioma | |
| Microcystic Stromal Tumor | |
| Microcysts | |
| Microcytic Hypochromic Anemia (Disorder) | |
| Microcytic Normochromic Anemia | |
| Microdeletion Syndromes | |
| Microdontia (Disorder) | |
| Microdysgenesis | |
| Microembolus | |
| Microglial Nodules | |
| Microglossia | Decreased length and width of the tongue. |
| Micrognathism | |
| Microgyria | |
| Microhydranencephaly | |
| Microinvasive Carcinoma | |
| Microinvasive Tumor | |
| Microlissencephaly | |
| Microlithiasis | |
| Micromelia | The presence of abnormally small extremities. |
| Micronodular Adrenal Hyperplasia | |
| Micronodular Cirrhosis | A type of cirrhosis characterized by the presence of small regenerative nodules. |
| Microorchidism | |
| Micropapillary Carcinoma | |
| Micropenis | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| Microphakia | Abnormal smallness of the lens. |
| Microphthalmia | |
| Microphthalmos | |
| Microphthalmos Co-Occurrent With Congenital Ocular Coloboma | |
| Microphthalmos, Autosomal Recessive | |
| Microprolactinoma | |
| Microsatellite Instability-High Colorectal Cancer | |
| Microsatellite Instability-High Solid Malignant Tumor | |
| Microscopic Polyarteritis | |
| Microspherocytosis | The presence of erythrocytes that are sphere-shaped and reduced in size. |
| Microspherophakia | |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma | |
| Microsporidiosis | An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. |
| Microstomia | |
| Microtia With Or Without Hearing Impairment | |
| Microtia Without Hearing Impairment | |
| Microtia, First Degree | Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. |
| Microtia, Hearing Impairment, And Cleft Palate | |
| Microvascular Angina | |
| Microvascular Complications Of Diabetes | |
| Microvenular Hemangioma | |
| Microvillus Inclusion Disease | |
| Mid Aortic Syndrome | |
| Mid-Dermal Elastolysis | |
| Middle Cerebral Artery Occlusion | |
| Middle Cerebral Artery Thrombosis | |
| Middle Ear Cholesteatoma | |
| Middle East Respiratory Syndrome | |
| Middle Eastern Respiratory Syndrome | |
| Middle Insomnia | |
| Middle Lobe Syndrome | A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. |
| Midface Capillary Hemangioma | |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis | |
| Midline Central Nervous System Lipomas | |
| Midline Cervical Cleft | |
| Midline Defect Of The Nose | This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. |
| Midline Facial Cleft | A congenital malformation with a cleft (gap or opening) in the midline of the face. |
| Midline Nasal Groove | An abnormal groove on the midline of the nose that may extend to the nasal tip. |
| Midshaft Hypospadias | |
| Migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| Migrating Partial Seizures In Infancy | |
| Mikulicz Disease | |
| Mild Bronchopulmonary Dysplasia | |
| Mild Cognitive Disorder | |
| Mild Dementia | |
| Mild Depression | |
| Mild Expressive Language Delay | |
| Mild Fetal Ventriculomegaly | |
| Mild Hereditary Factor Viii Deficiency Disease | |
| Mild Hypermetropia | |
| Mild Mental Retardation | |
| Mild Mood Disorder | |
| Mild Neurosensory Hearing Impairment | The presence of a mild form of sensorineural hearing impairment. |
| Mild Non-Proliferative Diabetic Retinopathy | |
| Mild Persistent Asthma | |
| Mild Steroid 21-Hydroxylase Deficiency | |
| Miles-Carpenter X-Linked Mental Retardation Syndrome | |
| Milia, Multiple Eruptive | |
| Milium Cyst | |
| Milk Protein Allergy | |
| Milk-Alkali Syndrome | |
| Miller Dieker Syndrome | |
| Miller Fisher Syndrome | A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. |
| Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) | |
| Milroy Disease | |
| Minamata Disease | |
| Mineralocorticoid Deficiency | |
| Mineralocorticoid Excess Syndrome, Apparent | |
| Minicore Myopathy With External Ophthalmoplegia (Disorder) | |
| Minimal Brain Dysfunction | |
| Minimal Deviation Adenocarcinoma Of Endocervical Type | |
| Minimal Hepatic Encephalopathy | |
| Minimally Conscious State | |
| Mink Parvovirus Infection | |
| Minor Oral Aphthous Ulceration | |
| Minor Salivary Gland Adenocarcinoma | |
| Minor Salivary Gland Carcinoma | |
| Miosis Disorder | |
| Mirizzi Syndrome | |
| Mirror Hands | |
| Mirror Movements | |
| Mirror Movements Disorder | |
| Mirror Syndrome | |
| Miscarriage | |
| Mit Family Translocation Renal Cell Carcinoma | |
| Mitchell-Riley Syndrome | |
| Mite Allergy | |
| Mitochondrial Abnormalities | |
| Mitochondrial Cardiomyopathy | |
| Mitochondrial Complex I Deficiency | |
| Mitochondrial Complex Ii Deficiency | |
| Mitochondrial Complex Iii Deficiency | |
| Mitochondrial Complex V Deficiency | |
| Mitochondrial Cytopathy | |
| Mitochondrial Diabetes | |
| Mitochondrial Dna Depletion Syndrome | |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive | |
| Mitochondrial Dna Mutation | |
| Mitochondrial Encephalomyopathies | |
| Mitochondrial Encephalopathy | |
| Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) | |
| Mitochondrial Enzyme Deficiency | |
| Mitochondrial Hepatopathy | |
| Mitochondrial Metabolism Disorder, Unspecified | |
| Mitochondrial Myopathy | A myopathy that is characterized by mitochondrial dysfunction. |
| Mitochondrial Myopathy With Lactic Acidosis | |
| Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome | |
| Mitochondrial Neurogastrointestinal Encephalopathy Syndrome | |
| Mitochondrial Phosphate Carrier Deficiency | |
| Mitochondrial Pyruvate Carrier Deficiency | |
| Mitochondrial Respiratory Chain Deficiencies | |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency | |
| Mitotically Active Leiomyoma | |
| Mitral And Aortic Incompetence | |
| Mitral Disease | |
| Mitral Valve Dysplasia | |
| Mitral Valve Endocarditis | |
| Mitral Valve Prolapse | A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. |
| Mitral Valve Prolapse Syndrome | disease cluster belonging to disease group cardiovascular |
| Mitral Valve Stenosis | A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. |
| Mixed Adenocarcinoma Of The Stomach | |
| Mixed Anxiety And Depressive Disorder | |
| Mixed Astigmatism | |
| Mixed Bipolar I Disorder | |
| Mixed Carcinoma | |
| Mixed Cell Type Gastrointestinal Stromal Tumor | |
| Mixed Cellularity Hodgkin Lymphoma | |
| Mixed Connective Tissue Disease | A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. |
| Mixed Cryoglobulinemia | |
| Mixed Delirium | |
| Mixed Dementia | |
| Mixed Demyelinating And Axonal Polyneuropathy | |
| Mixed Dust Pneumoconiosis | |
| Mixed Epithelial/Mesenchymal Metaplastic Breast Carcinoma | |
| Mixed Follicular And Papillary Thyroid Carcinoma | |
| Mixed Germ Cell Tumor | |
| Mixed Gliomas | |
| Mixed Hyperlipidemia (Disorder) | |
| Mixed Irritable Bowel Syndrome | |
| Mixed Lineage Leukemia | |
| Mixed Medullary-Follicular Carcinoma | |
| Mixed Oligoastrocytoma | |
| Mixed Oligodendroglioma-Astrocytoma | |
| Mixed Oligodendroglioma-Ependymoma | |
| Mixed Phenotype Acute Leukemia | |
| Mixed Phenotype Acute Leukemia T/Myeloid | |
| Mixed Salivary Gland Tumor | |
| Mixed Sclerosing Bone Dystrophy | |
| Mixed Sensory-Motor Polyneuropathy | |
| Mixed Somatotroph And Lactotroph Adenoma | |
| Mixed Tumor, Mullerian | |
| Mixed Type Cataract | |
| Miyoshi Muscular Dystrophy | |
| Miyoshi Myopathy | Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes. |
| Mlasa Syndrome | |
| Mobius Ii Syndrome | |
| Mobius Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Moderate Chronic Obstructive Pulmonary Disease | |
| Moderate Dementia | |
| Moderate Depression | |
| Moderate Expressive Language Delay | |
| Moderate Hepatic Insufficiency | |
| Moderate Hereditary Factor Viii Deficiency Disease | |
| Moderate Intellectual Disability | |
| Moderate Myopia | |
| Moderate Obesity | |
| Moderate Pancreatic Duct Dysplasia | |
| Moderate Persistent Asthma | |
| Moderately Differentiated Hepatocellular Carcinoma | |
| Moderately Differentiated Squamous Cell Carcinoma | |
| Mohr Syndrome | |
| Mohr-Tranebjaerg Syndrome | |
| Molar Incisor Hypomineralization | |
| Molluscoid Pseudotumors | Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. |
| Molluscum Contagiosum | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. |
| Molluscum Contagiosum Skin Infection | |
| Molybdenum Cofactor Deficiency | Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. |
| Monckeberg Medial Calcific Sclerosis | |
| Mondini Defect | |
| Mongolian Spot | |
| Monilethrix | OMIM mapping confirmed by DO. [SN]. |
| Monoarthritis | |
| Monoblastic Leukemia | |
| Monocarboxylate Transporter I Deficiency | |
| Monoclonal B-Cell Lymphocytosis | |
| Monoclonal Gammopathy Of Undetermined Significance | |
| Monoclonal Immunoglobulin M Proteinemia | |
| Monoclonal Mast Cell Activation Syndrome | |
| Monoclonal Paraproteinemia | |
| Monocytic Leukemia | |
| Monocytoid B-Cell Lymphoma | |
| Monocytosis | An increased number of circulating monocytes. |
| Monogenic Autoinflammatory Syndrome | |
| Monogenic Diabetes | |
| Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma | |
| Monomorphic Post-Transplant Lymphoproliferative Disorder | |
| Mononeuritis | |
| Mononeuritis Multiplex | |
| Mononeuropathy Of The Median Nerve, Mild | |
| Monophasic Synovial Sarcoma | |
| Monophthalmos | |
| Monoplegia | |
| Monoplegic Cerebral Palsy | |
| Monoplegic Infantile Cerebral Palsy | |
| Monorchism | |
| Monosomy | one chromosome missing from an otherwise diploid chromosome set |
| Montreal Platelet Syndrome | |
| Mood Swings | An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels. |
| Moon'S Molar Teeth | |
| Mooren'S Ulcer | |
| Moral Injury | |
| Morbid Obesity And Spermatogenic Failure | |
| Morbilliform Drug Reaction | |
| Morgagnian Cataract | |
| Morm Syndrome | |
| Morning Glory Anomaly | |
| Morning Glory Syndrome | |
| Morphea | |
| Morphine Abuse | |
| Morphine Dependence | An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. |
| Morphological Abnormality Of The Pyramidal Tract | Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. |
| Morphological Abnormality Of The Semicircular Canal | An abnormality of the morphology of the semicircular canal. |
| Morphologically Altered Structure | |
| Morton Neuroma | |
| Morvan Syndrome | |
| Mosaic Corneal Dystrophy | |
| Mosaic Trisomy 2 Syndrome | |
| Mosaic Trisomy 8 Syndrome | |
| Mosaic Turner Syndrome | |
| Mosaic Variegated Aneuploidy | |
| Mosaic Variegated Aneuploidy Syndrome | Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. |
| Motiloma Syndrome | |
| Motion Sickness | OMIM mapping confirmed by DO. [SN]. |
| Motor And Sensory Neuropathy | |
| Motor Neuron Atrophy | Wasting involving the motor neuron. |
| Motor Neuron Disease | A neurodegenerative disease that is located_in the motor neurones. |
| Motor Speech Disorder | |
| Motor Tic Disorders | |
| Mountain Sickness | disease cluster belonging to disease group other |
| Mowat-Wilson Syndrome | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations. |
| Moyamoya Disease | A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. |
| Moyamoya Phenomenon | A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. |
| Mps Iii | |
| Mptp Poisoning | |
| Mptp-Induced Degeneration Of The Striatum | |
| Mrsa - Methicillin Resistant Staphylococcus Aureus Infection | |
| Msi-High | |
| Msi-Low | |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia | |
| Mthfr Deficiency, Thermolabile Type | |
| Mucin-Producing Adenocarcinoma | |
| Mucin-Producing Intrahepatic Cholangiocarcinoma | |
| Mucinous (Colloid) Adenocarcinoma | |
| Mucinous Adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. |
| Mucinous Adenocarcinoma Of Colon | |
| Mucinous Adenocarcinoma, Intestinal Type | |
| Mucinous Breast Cancer | |
| Mucinous Carcinoma Of Breast | |
| Mucinous Colorectal Carcinoma | |
| Mucinous Cystadenoma Of Ovary | |
| Mucinous Cystic Tumor Of Borderline Malignancy | |
| Mucinous Endometrial Carcinoma | |
| Mucinous Gastric Carcinoma | |
| Mucinous Neoplasm | |
| Mucinous Tubular And Spindle Cell Carcinoma | |
| Muckle-Wells Syndrome | |
| Mucocele | |
| Mucocele Of Appendix | |
| Mucocele Of Gallbladder | |
| Mucocele Of Salivary Gland | |
| Mucociliary Clearance Defect | |
| Mucocutaneous Candidiasis | |
| Mucocutaneous Herpes Simplex | |
| Mucocutaneous Leishmaniasis | A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. |
| Mucocutaneous Lymph Node Syndrome | |
| Mucocutaneous Ulcer | |
| Mucocutaneous Ulceration, Chronic | |
| Mucoepidermoid Breast Carcinoma | |
| Mucoepidermoid Carcinoma | A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. |
| Mucoepidermoid Carcinoma Of Lung | |
| Mucoepidermoid Carcinoma Of Parotid Gland | |
| Mucoepidermoid Carcinoma Of Salivary Gland | |
| Mucoepidermoid Carcinoma, High Grade | |
| Mucoepidermoid Tumor | |
| Mucolipidosis | A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
| Mucolipidosis Ii Alpha/Beta (Disorder) | |
| Mucopolysaccharidosis | A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
| Mucopolysaccharidosis, Type Vi, Severe | |
| Mucopolysaccharidosis-Plus Syndrome | |
| Mucormycosis | |
| Mucosa-Associated Lymphoid Tissue Lymphoma | |
| Mucosal Infection | |
| Mucosal Melanoma | |
| Mucosal Melanoma Of The Head And Neck | |
| Mucosal Neuromas | |
| Mucosal Telangiectasiae | Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. |
| Mucosal Ulcer | |
| Mucus Cast | |
| Mucus Polyp | |
| Muenke Syndrome | |
| Mulibrey Nanism | OMIM mapping confirmed by DO. [SN]. |
| Mullerian Aplasia | |
| Mullerian Aplasia And Hyperandrogenism | |
| Mullerian Inhibiting Factor Deficiency | |
| Multi Vessel Coronary Artery Disease | |
| Multi-Centric Castleman'S Disease | |
| Multi-Core Congenital Myopathy | |
| Multi-Infarct Dementia | |
| Multi-Organ Disorder | |
| Multicentric Breast Carcinoma | |
| Multicystic Dysplastic Kidney | |
| Multicystic Encephalomalacia | |
| Multicystic Mesothelioma, Benign | |
| Multicystic Renal Dysplasia, Bilateral | |
| Multidirectional Nystagmus | |
| Multidrug Resistant Pulmonary Tuberculosis | |
| Multifocal Breast Carcinoma | |
| Multifocal Choroiditis | |
| Multifocal Micronodular Pneumocyte Hyperplasia | |
| Multifocal Motor Neuropathy | |
| Multifocal Osteosarcoma | |
| Multifocal Pattern Dystrophy Of Retinal Pigment Epithelium Simulating Fundus Flavimaculatus | |
| Multiminicore Disease, Moderate, With Hand Involvement | |
| Multinodular Goiter | A goiter characterized by a multinodular enlargement of the thyroid gland. |
| Multinucleate Cell Angiohistiocytoma | |
| Multiple Abscesses | |
| Multiple Acyl Coenzyme A Dehydrogenase Deficiency | |
| Multiple Adenomatous Polyps | |
| Multiple Allergies | |
| Multiple Aneurysms | |
| Multiple Basal Cell Papillomata | |
| Multiple Biliary Hamartomas | |
| Multiple Carboxylase Deficiency | An amino acid metabolic disorder that involves failures of carboxylation enzymes. |
| Multiple Chronic Conditions | |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome | |
| Multiple Cranial Nerve Palsy | |
| Multiple Cysts | |
| Multiple Digital Exostoses | Multiple exostoses originating in the fingers and toes. |
| Multiple Disability | |
| Multiple Endocrine Neoplasia | |
| Multiple Epiphyseal Dysplasia | An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. |
| Multiple Evanescent White Dot Syndrome | |
| Multiple Fibroadenomas Of The Breast | |
| Multiple Fibrofolliculomas | |
| Multiple Gastrointestinal Atresias (Disorder) | |
| Multiple Hemangioblastomas | |
| Multiple Joint Dislocations | |
| Multiple Lacunar Infarcts | |
| Multiple Lentigines | Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. |
| Multiple Lentigines/Leopard Syndrome | |
| Multiple Lineage Myelodysplasia | |
| Multiple Lipomata | |
| Multiple Lung Cysts | |
| Multiple Mitochondrial Dysfunctions Syndrome | |
| Multiple Myeloma | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. |
| Multiple Myeloma Progression | |
| Multiple Nevi | |
| Multiple Non-Ossifying Fibromatosis | |
| Multiple Osteochondroma Of Long Bone | |
| Multiple Pancreatic Beta-Cell Adenomas | |
| Multiple Polyps | |
| Multiple Pterygium Syndrome | |
| Multiple Pterygium Syndrome, Autosomal Dominant | |
| Multiple Pterygium Syndrome, Lethal Type | |
| Multiple Renal Cysts | The presence of many cysts in the kidney. |
| Multiple Sclerosis | A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. |
| Multiple Sclerosis In Children | |
| Multiple Sclerosis Lesion | |
| Multiple Sclerosis Relapse | |
| Multiple Sclerosis, Acute Fulminating | |
| Multiple Sclerosis, Acute Relapsing | |
| Multiple Sclerosis, Chronic Progressive | |
| Multiple Sclerosis, Primary Progressive | |
| Multiple Sclerosis, Relapsing-Remitting | |
| Multiple Sclerosis, Secondary Progressive | |
| Multiple Self-Healing Epithelioma Of Ferguson-Smith | |
| Multiple Self-Healing Squamous Epithelioma | |
| Multiple Small Medullary Renal Cysts | |
| Multiple Sulfatase Deficiency Disease | |
| Multiple Synostoses Syndrome | |
| Multiple System Atrophy | OMIM mapping confirmed by DO. [LS]. |
| Multiple System Atrophy, Cerebellar Variant | |
| Multiple Trichoepitheliomas | |
| Multiple Ventricular Septal Defects | |
| Multiple, Subcutaneous Nodules | |
| Mumps | A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. |
| Mumps Meningitis | |
| Mumps Virus Infection | |
| Mungan Syndrome | |
| Mural Thrombus | |
| Mural Thrombus Of Heart | |
| Mural Unicystic Ameloblastoma | |
| Muscle Amp Deaminase Deficiency | |
| Muscle Degeneration | pathological deterioration of muscle tissue, often accompanied by loss of function |
| Muscle Eye Brain Disease | |
| Muscle Fiber Atrophy | |
| Muscle Hematoma | |
| Muscle Hypoxia | |
| Muscle Tension Dysphonia | |
| Muscular Atrophy | |
| Muscular Dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| Muscular Sarcoidosis | |
| Muscular Ventricular Septum Defect | |
| Musculoskeletal Infection | |
| Musician'S Dystonia | |
| Mutation-Negative Lynch Syndrome | |
| Mutilating Keratoderma | |
| Mutyh-Associate Polyposis | |
| Myasthenia Gravis | OMIM mapping confirmed by DO. [SN]. |
| Myasthenia Gravis, Generalized | |
| Myasthenia Gravis, Ocular | |
| Myasthenia, Familial Infantile, 1 | |
| Myasthenias | |
| Myasthenic Crisis | |
| Myasthenic Syndrome | |
| Mycetoma | |
| Mycobacterial Lymphadenitis | |
| Mycobacterium Infection | |
| Mycobacterium Tuberculosis Meningitis | |
| Mycobacterium Tuberculosis, Susceptibility To (Finding) | |
| Mycobacterium; Ulcerans (Disease) | |
| Mycoplasma Pneumonia | |
| Mycoplasma-Induced Stevens-Johnson Syndrome | |
| Mycosis Fungoides | OMIM mapping confirmed by DO. [SN]. |
| Mycotic Aneurysm, Intracranial | |
| Myd88 Deficiency | |
| Mydriasis, Congenital | |
| Myelin Tomacula | |
| Myelinopathy | |
| Myelitis | |
| Myelitis, Acute Transverse | |
| Myelitis, Postinfectious | |
| Myelitis, Transverse | |
| Myeloblastic Leukemia | |
| Myeloblastoma | |
| Myeloblastosis | |
| Myelocele | |
| Myelocerebellar Disorder | |
| Myelocytic Leukemia-Like Syndrome, Familial, Chronic | |
| Myelocytosis | |
| Myelodysplasia | |
| Myelodysplastic Syndrome | Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells.|A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) |
| Myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| Myeloid And/Or Lymphoid Neoplasm Associated With Platelet Derived Growth Factor Receptor Alpha Rearrangement | |
| Myeloid Hyperplasia | greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue |
| Myeloid Leukemia | A leukemia that is located_in myeloid tissue. |
| Myeloid Leukemia Associated With Down Syndrome | |
| Myeloid Metaplasia | |
| Myeloid Neoplasm | |
| Myeloid Proliferations Associated With Down Syndrome | |
| Myelokathexis | |
| Myelokathexis, Isolated | |
| Myelolipoma | |
| Myelolipoma Of Adrenal Gland | |
| Myeloma Kidney | |
| Myeloma, Endothelial | |
| Myelomalacia | |
| Myelomonocytic Leukemia | |
| Myelopathic Muscular Atrophy | |
| Myeloperoxidase Deficiency | |
| Myeloproliferative Disorder | |
| Myeloproliferative Neoplasm, Unclassifiable | |
| Myeloschisis | |
| Myhre Syndrome | |
| Myocardial Bridging | |
| Myocardial Failure | |
| Myocardial Hypoxia | |
| Myocardial Infarction | Xref MGI. |
| Myocardial Infarction With Nonobstructive Coronary Arteries | |
| Myocardial Infarction, Stroke | |
| Myocardial Ischemia | |
| Myocardial Necrosis | |
| Myocardial Reinfarction | |
| Myocardial Rupture | |
| Myocardial Stunning | |
| Myocarditis | An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. |
| Myocarditis, Active | |
| Myoclonic Absences | |
| Myoclonic Cerebellar Dyssynergia | OMIM mapping confirmed by DO. [SN]. |
| Myoclonic Disorder | |
| Myoclonic Dystonia | |
| Myoclonic Encephalopathy | |
| Myoclonic Epilepsy | |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 (Disorder) | |
| Myoclonic-Atonic Epilepsy | |
| Myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| Myoepithelioma | A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. |
| Myofascial Pain Syndromes | |
| Myofibrillar Myopathy | Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
| Myofibroblastoma | |
| Myofibroma (Morphologic Abnormality) | |
| Myofibromatosis | |
| Myoglobinaemia | |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive | |
| Myokymia | Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. |
| Myokymia 1 With Hypomagnesemia | |
| Myolipoma | |
| Myoma | |
| Myomatous Neoplasm | |
| Myopathic Ophthalmopathy | |
| Myopathies, Nemaline | |
| Myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| Myopericarditis | |
| Myopericytoma | |
| Myopia | A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
| Myopic Astigmatism | |
| Myopic Choroidal Neovascularization | |
| Myopic Conus | |
| Myopic Macular Degeneration | |
| Myopic Traction Maculopathy | |
| Myosarcoma | |
| Myosclerosis | |
| Myosclerosis, Autosomal Recessive | |
| Myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| Myositis Ossificans | A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. |
| Myositis, Focal | |
| Myositis, Proliferative | |
| Myostatin-Related Muscle Hypertrophy | |
| Myotonia | An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. |
| Myotonia Congenita, Atypical, Acetazolamide-Responsive | |
| Myotonic Dystrophy | |
| Myotubular (Centronuclear) Myopathy | |
| Myotubular Myopathy With Abnormal Genital Development | |
| Myxedema | OMIM mapping confirmed by DO. [SN]. |
| Myxedema, Congenital | |
| Myxofibroma | |
| Myxoid Chondrosarcoma | |
| Myxoid Cyst | |
| Myxoid Leiomyoma | |
| Myxoid Liposarcoma Metastatic | |
| Myxoid Subcutaneous Tumors | |
| Myxoid/Round Cell Liposarcoma | |
| Myxoinflammatory Fibroblastic Sarcoma | |
| Myxoma | |
| Myxomatous Mitral Valve Prolapse 1 | |
| N-Acetylaspartate Deficiency | |
| N-Acetylneuraminic Acid Storage Disease | |
| Nablus Mask-Like Facial Syndrome | |
| Nadh Cytochrome B5 Reductase Deficiency | |
| Nadh-Cytochrome B5 Reductase Deficiency, Type I | |
| Nadh-Cytochrome B5 Reductase Deficiency, Type Ii | |
| Naegeli Syndrome | |
| Nagana | |
| Nager Syndrome | Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. |
| Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome | |
| Nail Disorder | |
| Nail Dysplasia | The presence of developmental dysplasia of the nail. |
| Nail-Patella Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Najjar Syndrome | |
| Nakajo Syndrome | |
| Nakamura Osame Syndrome | |
| Namaqualand Hip Dysplasia | |
| Nance-Horan Syndrome | |
| Nanophthalmia | |
| Nanophthalmos | |
| Narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| Narcolepsy 1 | |
| Narcolepsy Type 1 | |
| Narcolepsy Without Cataplexy | |
| Narcolepsy-Cataplexy Syndrome | |
| Narcosis | |
| Narcotic Abuse | |
| Narcotic Dependence | |
| Narrow Angle | |
| Narrow Foramen Obturatorium | |
| Narrow Maxilla | |
| Narrowing | |
| Nasal And Nasal-Type Nk/T-Cell Lymphoma | |
| Nasal Cavity Carcinoma | A nasal cavity cancer that_has_material_basis_in epithelial cells. |
| Nasal Chondromesenchymal Hamartoma | |
| Nasal Mucosa Telangiectasia | Telangiectasia of the nasal mucosa. |
| Nasal Polyps | |
| Nasal Type Extranodal Nk/T-Cell Lymphoma | |
| Nasal Vestibulitis | |
| Nasodigitoacoustic Syndrome | |
| Nasopalpebral Lipoma Coloboma Syndrome | |
| Nasopharyngeal Angiofibroma | disease cluster belonging to disease group cancer |
| Nasopharyngeal Cancer | disease cluster belonging to disease group cancer |
| Nasopharyngeal Carcinoma | |
| Nasopharyngitis | A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. |
| Nat1 Polymorphism | |
| Nat2 Polymorphism | |
| Native American Myopathy | Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
| Native Valve Endocarditis | |
| Natural Killer Cell Deficiency, Familial Isolated | |
| Natural Killer Cell Enteropathy | |
| Navajo Familial Neurogenic Arthropathy | |
| Navajo Neurohepatopathy | |
| Naxos Disease | |
| Neck Webbing | |
| Necrobiosis Lipoidica Diabeticorum | |
| Necrobiotic Xanthogranuloma | |
| Necrolysis Epidermal | |
| Necrolytic Migratory Erythema | |
| Necrosis Nec | |
| Necrosis Of Pancreas | |
| Necrosis Of Placenta | |
| Necrotic Enteritis | |
| Necrotic Melanoma | |
| Necrotic Tumor | |
| Necrotising Myositis | |
| Necrotising Vasculopathy | |
| Necrotizing Arteritis | |
| Necrotizing Encephalopathy, Infantile Subacute, Of Leigh | |
| Necrotizing Enterocolitis | |
| Necrotizing Enterocolitis In Fetus Or Newborn | |
| Necrotizing Fasciitis | |
| Necrotizing Funisitis | |
| Necrotizing Glomerulonephritis | |
| Necrotizing Lymphadenitis | |
| Necrotizing Myopathy | |
| Necrotizing Scleritis | |
| Necrotizing Soft Tissue Infection | |
| Necrotizing Ulcerative Gingivitis | |
| Necrotizing Vasculitis | |
| Needle Phobia | |
| Negative Affectivity | |
| Negativism In Catatonia | |
| Neisseria Infection | |
| Nelson Syndrome | |
| Nemaline Myopathy | A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. |
| Neointima | A new or thickened layer of arterial intima formed especially on a prosthesis or in atherosclerosis by migration and proliferation of cells from the media. |
| Neointimal Hyperplasia | |
| Neonatal Abstinence Syndrome | A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. |
| Neonatal Alloimmune Thrombocytopenia | Low platelet count associated with maternal platelet-specific alloantibodies. |
| Neonatal Alloimmune Thrombocytopenia (Nait) | |
| Neonatal Chlamydial Conjunctivitis | |
| Neonatal Deformity | |
| Neonatal Diabetes Mellitus | |
| Neonatal Diarrhea | |
| Neonatal Disorder Of Endocrine System | |
| Neonatal Early-Onset Sepsis | |
| Neonatal Encephalopathy | |
| Neonatal Hemochromatosis | |
| Neonatal Hemolytic Anemia | |
| Neonatal Hepatitis | |
| Neonatal Herpes | |
| Neonatal Hyperglycemia | |
| Neonatal Hyperparathyroidism | |
| Neonatal Hyperthyroidism | |
| Neonatal Hypocalcemia | |
| Neonatal Hypoglycemia | |
| Neonatal Hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| Neonatal Hypoxic Ischemic Encephalopathy | |
| Neonatal Infection | disease cluster belonging to disease group infection |
| Neonatal Inflammatory Skin And Bowel Disease | |
| Neonatal Intestinal Obstruction | |
| Neonatal Late-Onset Sepsis | |
| Neonatal Leukaemia | |
| Neonatal Listeriosis | |
| Neonatal Maladjustment Syndrome | |
| Neonatal Marfan Syndrome | |
| Neonatal Meningitis | |
| Neonatal Necrotizing Enterocolitis | |
| Neonatal Opiate Withdrawal Syndrome | |
| Neonatal Pneumonia | |
| Neonatal Respiratory Failure | |
| Neonatal Respiratory System Disorder | |
| Neonatal Rickets | |
| Neonatal Stroke | |
| Neonatal Systemic Lupus Erythematosus | |
| Neonatal Testicular Torsion | |
| Neonatal Thrombocytopenia (Disorder) | |
| Neonatal Thrombosis Of Cerebral Venous Sinus | |
| Neonatal Thyrotoxicosis | |
| Neonatal Torulopsis Glabrata Fungemia | |
| Neonatal Unconjugated Hyperbilirubinemia | |
| Neoplasia Of The Pleura | |
| Neoplasm Diagnosis | |
| Neoplasm Of Ampulla Of Vater | |
| Neoplasm Of Body Of Uterus | |
| Neoplasm Of Cardiovascular System | |
| Neoplasm Of Cauda Equina | |
| Neoplasm Of Cerebrum | |
| Neoplasm Of Chest Wall | |
| Neoplasm Of Cornea | |
| Neoplasm Of Frontal Lobe | |
| Neoplasm Of Middle Ear | |
| Neoplasm Of Minor Salivary Gland | |
| Neoplasm Of Scrotum | |
| Neoplasm Of Skeletal System | |
| Neoplasm Of Skin With Adnexal Differentiation | |
| Neoplasm Of Small Intestine | |
| Neoplasm Of Temporal Lobe | |
| Neoplasm Of The Anterior Pituitary | A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. |
| Neoplasm Of The Posterior Pituitary | |
| Neoplasm Of Uncertain Behavior Of Lymphoid, Hematopoietic And Related Tissue, Unspecified | |
| Neoplasm Of Uncertain Or Unknown Behavior Of Bladder | |
| Neoplasm Of Uncertain Or Unknown Behavior Of Breast | |
| Neoplasm Of Uncertain Or Unknown Behavior Of Ovary | |
| Neoplasm Of Uncertain Or Unknown Behavior Of Stomach | |
| Neoplasm Of Uncertain Or Unknown Behavior Of Testis | |
| Neoplasms, Embryonal And Mixed | |
| Neoplasms, Nerve Tissue | |
| Neoplastic C-Cell Hyperplasia | |
| Nephritic Syndrome | |
| Nephritis | |
| Nephritis, Interstitial | |
| Nephritis, Tubulointerstitial | |
| Nephroangiosclerosis | disease cluster belonging to disease group other |
| Nephroblastoma | A kidney cancer that affects the kidneys and typically located_in children. |
| Nephroblastoma, Favorable Histology | |
| Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor | |
| Nephrocalcinosis | |
| Nephrogenic Adenofibroma | |
| Nephrogenic Diabetes Insipidus | An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). |
| Nephrogenic Fibrosing Dermopathy | |
| Nephrogenic Metaplasia | |
| Nephrogenic Rest | Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. |
| Nephrogenic Rest, Intralobar | |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis | Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. |
| Nephrogenic Systemic Fibrosis | Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. |
| Nephrolithiasis | Formation of stones in the KIDNEY. |
| Nephrolithiasis-Osteoporosis | |
| Nephronophthisis | An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
| Nephropathia Epidemica | A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. |
| Nephropathic Cystinosis | |
| Nephropathy Salt Wasting | |
| Nephropathy With Pretibial Epidermolysis Bullosa And Deafness | |
| Nephrosclerosis | |
| Nephrosis | |
| Nephrotic Syndrome | Xref MGI. |
| Nephrotoxic Serum Nephritis | |
| Nerve Compression Syndrome | |
| Nerve Entrapment | |
| Nerve Paralysis | |
| Nerve Root Compression | |
| Nervous System, Organic Arsenic Poisoning | |
| Nervous System--Degeneration | |
| Nesidioblastosis | |
| Nestor Guillermo Progeria Syndrome | |
| Neu-Laxova Syndrome | Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |
| Neural Crest Tumor | |
| Neural Glioblastoma | |
| Neural Hearing Loss | |
| Neural Tube Defect, Folate-Sensitive | |
| Neural Tube Defects X-Linked | |
| Neural Tube Defects, Susceptibility To | |
| Neural Tube--Abnormalities | |
| Neuralgia | |
| Neurally Mediated Syncope | |
| Neuraminidase 1 Deficiency | |
| Neurasthenia | |
| Neurenteric Cyst | |
| Neurilemmoma | |
| Neuritis | |
| Neuritis, Autoimmune, Experimental | |
| Neuro-Behcet Disease | |
| Neuro-Degenerative Disease | |
| Neurobehavioral Problems | |
| Neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| Neuroborreliosis | |
| Neurocirculatory Asthenia | A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. |
| Neurocognitive Deficit | |
| Neurocutaneous Syndromes | |
| Neurocysticercosis | |
| Neurocytoma | |
| Neurodegeneration | a retrogressive impairment of function or destruction of neural tissue |
| Neurodermatitis | |
| Neurodevelopmental Anomaly | |
| Neurodevelopmental Disorder | |
| Neuroectodermal Tumor | |
| Neuroendocrine Carcinoma, Metastatic | |
| Neuroendocrine Cell Hyperplasia Of Infancy | |
| Neuroendocrine Cervical Carcinoma | |
| Neuroendocrine Neoplasm Of Lung | |
| Neuroendocrine Tumor G2 (Net G2) | |
| Neuroendocrine Tumor Grade 1 | |
| Neuroendocrine Tumor Of Pancreas | |
| Neuroepithelial, Perineurial, And Schwann Cell Neoplasm | |
| Neuroepithelioma | |
| Neuroepithelioma, Peripheral | |
| Neuroferritinopathy | Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. |
| Neurofibroma | A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)|An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.|A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). |
| Neurofibroma Of Subcutaneous Tissue | |
| Neurofibromatosis | |
| Neurofibrosarcoma | |
| Neurogenic Arthropathy | |
| Neurogenic Bladder Dysfunction | |
| Neurogenic Hypertension | |
| Neurogenic Inflammation | |
| Neurogenic Pulmonary Edema | |
| Neurogenic Tumour | |
| Neurogenic Urinary Bladder | |
| Neuroglycopenia | |
| Neuroleptic Malignant Syndrome | |
| Neuroleptic-Induced Tardive Dyskinesia | |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset | |
| Neurological Infection | |
| Neurological Morbidity | |
| Neurological Ventriculitis | |
| Neurolymphomatosis | |
| Neuroma | A nervous system benign neoplasm that is characterized as a nerve tissue tumor. |
| Neuroma, Acoustic, Bilateral | |
| Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber (Disorder) | |
| Neuromuscular Dysphagia | |
| Neuromuscular Hamartoma | |
| Neuromuscular Inhibition | |
| Neuromuscular Scoliosis | |
| Neuromuscular Toxicity | |
| Neuromyelitis Optica | A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. |
| Neuromyelitis Optica Attack | |
| Neuronal Ceroid Lipofuscinosies | |
| Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency | |
| Neuronal Choristoma | |
| Neuronal Heterotopia | |
| Neuronal Intestinal Dysplasia | |
| Neuronal Intestinal Pseudoobstruction | |
| Neuronal Intranuclear Inclusion Disease | |
| Neuronopathy | |
| Neuropapillitis | |
| Neuropathy | A nervous system disease that is located in the nervous system. |
| Neuropil Threads | |
| Neuropsychiatric Syndrome | |
| Neuropsychiatric Systemic Lupus Erythematosus | |
| Neuroretinitis | |
| Neurosarcoidosis | |
| Neurosyphilis | |
| Neurothekeoma | |
| Neurotic Personality | |
| Neuroticism | disease cluster belonging to disease group psych |
| Neurotmesis | |
| Neurotoxoplasmosis | |
| Neurotrophic Keratitis | |
| Neurovascular Conflict | |
| Neurovascular Disorder | |
| Neutral Lipid Storage Disease With Myopathy | |
| Neutropenia | |
| Neutrophil Actin Dysfunction | |
| Neutrophil Extracellular Trap Formation | |
| Neutrophil Immunodeficiency Syndrome | Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. |
| Neutrophilia | |
| Neutrophilic Asthma | |
| Neutrophilic Dermatosis | |
| Neutrophilic Eccrine Hidradenitis | |
| Neutrophilic Folliculitis | |
| Neutrophilic Leukemia | |
| Neutrophilic Panniculitis | |
| Nevi Flammei, Familial Multiple | |
| Nevo Syndrome (Disorder) | |
| Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma | |
| Nevoid Melanoma | |
| Nevus | |
| Nevus, Epidermal (Disorder) | |
| New Onset Diabetes After Transplant | |
| New Variant Creutzfeldt-Jakob Disease | |
| Newcastle Disease | A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. |
| Newfoundland Rod-Cone Dystrophy | |
| Newly Diagnosed Childhood Ependymoma | |
| Newly Diagnosed Non-Small Cell Lung Cancer | |
| Newmann-Pick Disease | |
| Nf1 Microdeletion Syndrome | |
| Ngly1 Deficiency | |
| Niacin Deficiency | |
| Nicolaides Baraitser Syndrome | |
| Nicotinamide Adenine Dinucleotide Coenzyme Q Reductase Deficiency | |
| Nicotine Dependence | |
| Nicotine Withdrawal | |
| Niemann-Pick Disease | OMIM mapping confirmed by DO. [SN]. |
| Nievergelt Syndrome | |
| Night Blindness | |
| Night Eating Syndrome | |
| Nightmare Disorder | |
| Nijmegen Breakage Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Nipah Virus Infection | |
| Nivelon Nivelon Mabille Syndrome | |
| Nocturia | Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. |
| Nocturnal Eating-Drinking Syndrome | |
| Nocturnal Epilepsy | |
| Nocturnal Myoclonus Syndrome | |
| Nodding Spasm | |
| Nodding Syndrome | |
| Node-Negative Breast Cancer | |
| Node-Positive Breast Cancer | |
| Nodoventricular Accessory Pathway | |
| Nodular Amyloidosis | |
| Nodular Cutaneous Amyloidosis | |
| Nodular Elastoidosis | |
| Nodular Fasciitis | |
| Nodular Glomerulosclerosis | |
| Nodular Goiter | |
| Nodular Heterotopia | |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma | |
| Nodular Lymphoid Hyperplasia | |
| Nodular Melanoma | |
| Nodular Neoplasm | |
| Nodular Prostate | |
| Nodular Sclerosis Classical Hodgkin Lymphoma | |
| Nodular Tenosynovitis | |
| Nodular Thyroid Disease | |
| Nodulocystic Acne | |
| Noise-Induced Hearing Loss | |
| Noise-Induced Temporary Threshold Shift | |
| Non Dystrophic Myotonia | |
| Non St Segment Elevation Acute Coronary Syndrome | |
| Non St Segment Elevation Myocardial Infarction | |
| Non Stemi | |
| Non-24 Hour Sleep-Wake Disorder | |
| Non-Acidotic Proximal Tubulopathy | A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. |
| Non-Advanced Adenomas | |
| Non-Alcoholic Fatty Liver Disease | A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. |
| Non-Allergic Rhinitis | |
| Non-Alzheimer'S Dementia (E.G., Lewy Body Dementia, Vascular Or Multi-Infarct Dementia; Mixed Dementia; Frontotemporal Dementia Such As Pick'S Disease; And Dementia Related To Stroke, Parkinson'S Or Creutzfeldt-Jakob Diseases) | |
| Non-Amnestic Alzheimer Disease | |
| Non-Arteritic Ischemic Optic Neuropathy | |
| Non-Arthropod Borne Lymphocytic Choriomeningitis | |
| Non-Bacterial Prostatitis | |
| Non-Bacterial Thrombotic Endocarditis | |
| Non-Cirrhotic Portal Hypertension | |
| Non-Compaction Cardiomyopathy | |
| Non-Convulsive Status Epilepticus | |
| Non-Cutaneous Melanoma | |
| Non-Diabetic Hyperglycemia | |
| Non-Dipping | |
| Non-Erosive Reflux Disease | |
| Non-Fatigable Positional Nystagmus | |
| Non-Fluent Aphasia | |
| Non-Follicular Lymphoma | |
| Non-Functioning Corticotroph Adenoma | |
| Non-Functioning Endocrine Neoplasm | |
| Non-Functioning Pituitary Gland Neoplasm | |
| Non-Gonococcal Urethritis (Ngu) | |
| Non-Hereditary Clear Cell Renal Cell Carcinoma | |
| Non-Herpetic Acute Limbic Encephalitis | |
| Non-Hodgkin'S Lymphoma Of Central Nervous System | |
| Non-Hodgkin'S Lymphoma Refractory | |
| Non-Hodgkin'S Lymphoma Transformed Recurrent | |
| Non-Infectious Anterior Uveitis | |
| Non-Infiltrating Lobular Carcinoma | |
| Non-Insulin-Dependent Diabetes Mellitus With Unspecified Complications | |
| Non-Intestinal Type Adenocarcinoma | |
| Non-Involuting Congenital Hemangioma | |
| Non-Ischemic Cardiomyopathy | |
| Non-Ischemic Dilated Cardiomyopathy | |
| Non-Metastatic Childhood Soft Tissue Sarcoma | |
| Non-Metastatic Prostate Cancer | |
| Non-Midline Cleft Lip | Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. |
| Non-Neoplastic Disorder | |
| Non-Neoplastic Peripheral Nervous System Disorder | |
| Non-Neoplastic Urinary System Disorder | |
| Non-Obstructive Azoospermia | Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy. |
| Non-Obstructive Reflux-Associated Chronic Pyelonephritis (Disorder) | |
| Non-Occlusive Mesenteric Ischemia | |
| Non-Ossifying Fibroma | |
| Non-Proliferative Retinopathy | |
| Non-Radiographic Axial Spondyloarthritis | |
| Non-Rapid Eye Movement Parasomnia | |
| Non-Scarring Alopecia | |
| Non-Secretory Plasma Cell Myeloma | |
| Non-Seminoma Testicular Cancer | |
| Non-Small Cell Adenocarcinoma | |
| Non-Small Cell Carcinoma | |
| Non-Small Cell Lung Cancer | |
| Non-Small Cell Lung Carcinoma | A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy. |
| Non-Specific Colitis | |
| Non-Squamous Non-Small Cell Lung Cancer | |
| Non-St Elevated Myocardial Infarction | |
| Non-St Elevation (Nstemi) Myocardial Infarction | |
| Non-St-Segment Elevation Myocardial Infarction (Nstemi) | |
| Non-Sustained Ventricular Tachycardia | |
| Non-Toxic Multinodular Goiter | |
| Non-Toxic Nodular Goiter | |
| Non-Transfusion Dependent Thalassaemia | |
| Non-Venereal Endemic Syphilis | |
| Nonaka Myopathy | |
| Nonalcoholic Steatohepatitis | |
| Nonarteritic Anterior Ischemic Optic Neuropathy (Naion) | |
| Nonbacterial Gastroenteritis | |
| Noncompaction Cardiomyopathy | A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. |
| Noncompaction Of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 | |
| Nondystrophic Myotonia | |
| Nonerosive Arthritis | |
| Nonexudative Age-Related Macular Degeneration | |
| Nongerminomatous Germ Cell Tumor | |
| Nongonococcal Cervicitis | |
| Nongranulomatous Uveitis | A form of uveitis that is not associated with the formation of granulomas. |
| Noninfectious Colitis | |
| Noninfectious Hepatitis | |
| Noninfective Neonatal Diarrhea | |
| Noninfiltrating Intraductal Carcinoma | |
| Noninfiltrating Intraductal Papillary Adenocarcinoma | |
| Noninvasive Carcinoma Ex Pleomorphic Adenoma | |
| Noninvasive Ductal Carcinoma | |
| Nonischemic Priapism | |
| Nonketotic Hyperglycinemia | |
| Nonmedullary Thyroid Carcinoma | |
| Nonmedullary Thyroid Carcinoma, With Or Without Cell Oxyphilia | |
| Nonneurogenic Neurogenic Bladder Dysfunction | |
| Nonnuclear Polymorphic Congenital Cataract | |
| Nonobstructive Cardiomyopathy | |
| Nonobstructive Chronic Pyelonephritis Nos | |
| Nonocclusive Mesenteric Ischemia | |
| Nonorganic Insomnia | |
| Nonorganic Psychosis | |
| Nonorganic Sleep Wake Cycle Disorders | |
| Nonpigmented Nevus | |
| Nonprogressive Encephalopathy | |
| Nonprogressive Muscular Atrophy | Muscular atrophy that does not display a progression in severity with time. |
| Nonprogressive Restrictive External Ophthalmoplegia | Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. |
| Nonprogressive/Congenital | |
| Nonproliferative Diabetic Retinopathy | |
| Nonproliferative Fibrocystic Disease | |
| Nonrheumatic Aortic (Valve) Stenosis | |
| Nonruptured Cerebral Aneurysm | |
| Nonruptured Congenital Cerebral Aneurysm | |
| Nonspecific Interstitial Pneumonia | An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. |
| Nonspherocytic Hemolytic Anemia | |
| Nonsyndromic Deafness | An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. |
| Nonsyndromic Holoprosencephaly | |
| Nontoxic Goiter | |
| Nontraumatic Subarachnoid Hemorrhage, Unspecified | |
| Noonan Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Nor Polyagglutination Syndrome | |
| Nor98 | |
| Normocytic Anemia | |
| Normocytic Hypoplastic Anemia | A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). |
| Normocytic Normochromic Anemia | |
| Normokalemic Periodic Paralysis | |
| Normokalemic Periodic Paralysis, Potassium-Sensitive | |
| Norrie Disease | Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. |
| North American Indian Childhood Cirrhosis | |
| North Carolina Macular Dystrophy | |
| Northern Epilepsy Syndrome | |
| Novel Influenza A/H1N1 | |
| Nuchal Bleb, Familial | |
| Nuclear Cataract | A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. |
| Nuclear Non-Senile Cataract | |
| Nuclear Sclerosis | |
| Nudt15 Deficiency | |
| Null Cell Pituitary Gland Adenoma | |
| Numb Chin Syndrome | |
| Nut Hypersensitivity | |
| Nut Midline Carcinoma | |
| Nutritional Hypophosphatemic Rickets | |
| Nutritional Rickets | |
| Nutritional Steatitis | |
| Nyctalopia | |
| Nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Nystagmus 6, Congenital, X-Linked | |
| O'Donnell Pappas Syndrome | |
| Oat Syndrome | |
| Obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| Obscure African Cardiomyopathy | |
| Obsessions | |
| Obsessive-Compulsive Disorder | An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. |
| Obsolete Combined Hyperlipidemia | |
| Obsolete Congenital Myopia | |
| Obsolete Peripheral Retinopathy | |
| Obsolete Prominent Epicanthal Folds | |
| Obsolete Rod-Cone Dystrophy | |
| Obstipation | |
| Obstruction Of Biliary Tree | |
| Obstruction Of Colon | |
| Obstructive Apnea | |
| Obstructive Asymmetric Septal Hypertrophy | |
| Obstructive Azoospermia | |
| Obstructive Chronic Pancreatitis | |
| Obstructive Emphysema | |
| Obstructive Hydrocephalus | |
| Obstructive Nephropathy | |
| Obstructive Sialadenitis | |
| Obstructive Sleep Apnea Hypopnea | |
| Obstructive Sleep Apnea Hypopnea Syndrome | |
| Obstructive Ureterocele | |
| Obstructive Ventilatory Defect | |
| Obtundation Status | |
| Occasional Neurofibromas | Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. |
| Occipital Encephalocele | A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. |
| Occipital Lobe Epilepsy | |
| Occipital Myelomeningocele | |
| Occlusive Mesenteric Arterial Ischemia | |
| Occlusive Stroke | |
| Occlusive Thrombus | |
| Occlusive Vascular Disease | |
| Occult Carcinoma | |
| Occult Chronic Type B Viral Hepatitis | |
| Occult Hepatitis B | |
| Occult Lung Adenocarcinoma | |
| Occult Macular Dystrophy | A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. |
| Occupational Cancer Of Skin | |
| Occupational Irritant Contact Dermatitis | |
| Ochoa Syndrome | |
| Ochronosis | |
| Ochronosis, Hereditary | |
| Ochronotic Arthritis | |
| Ochronotic Arthropathy | |
| Ocular Adnexal Lymphoma | |
| Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma | |
| Ocular Albinism | |
| Ocular Cicatricial Pemphigoid | disease cluster belonging to disease group vision |
| Ocular Discomfort | |
| Ocular Hypertension | |
| Ocular Hypertension, Bilateral | |
| Ocular Hypotension | |
| Ocular Larva Migrans | |
| Ocular Melanosis | |
| Ocular Muscular Dystrophy | |
| Ocular Rosacea | |
| Ocular Sarcoidosis | |
| Ocular Surface Disease | |
| Ocular Syphilis | |
| Ocular Toxoplasmosis | |
| Oculo-Dento-Digital Syndrome | |
| Oculoauricular Syndrome | |
| Oculoauriculofrontonasal Syndrome | |
| Oculocerebrorenal Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Oculocutaneous Albinism | An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. |
| Oculodentodigital Dysplasia | NT MGI. |
| Oculodigitoesophagoduodenal Syndrome | |
| Oculomaxillofacial Dysostosis | |
| Oculomelic Amyoplasia | |
| Oculomotor Apraxia | Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. |
| Oculomotor Nerve Paralysis | |
| Oculootodental Syndrome | |
| Oculootoradial Syndrome | |
| Oculopalatoskeletal Syndrome | |
| Oculopharyngeal Spinal Muscular Atrophy | |
| Oculopharyngodistal Myopathy | |
| Oculorespiratory Syndrome | |
| Oculoskeletal Dysplasia | |
| Oculovestibuloauditory Syndrome | |
| Odonto-Onycho-Dermal Dysplasia | |
| Odontodysplasia | |
| Odontogenesis Imperfecta | |
| Odontogenic Cysts | |
| Odontogenic Myxofibroma | |
| Odontogenic Myxoma | |
| Odontogenic Tumor, Benign | |
| Odontohypophosphatasia (Disorder) | |
| Odontoma | The presence of an odontoma. |
| Odontoma Dysphagia Syndrome | |
| Odontome | |
| Odontoonychodermal Dysplasia | |
| Oedema Auricular | |
| Oedematous Pancreatitis | |
| Oesophageal Carcinoma Recurrent | |
| Oesophageal Fibrosis | |
| Oesophageal Papilloma | |
| Oestrogen Deficiency | |
| Oestrogen Receptor Positive Breast Cancer | |
| Offensive Aggression | |
| Ogden Syndrome | An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. |
| Ogilvie Syndrome | |
| Oguchi Disease | Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. |
| Ohdo Syndrome | |
| Oi-Eds Combined Syndrome | |
| Okihiro Syndrome | Le résumé pour cette maladie est en cours de production. Cependant, vous pouvez accéder à d'autres données sur cette maladie à partir du menu « Informations complémentaires » situé à droite sur cette page. |
| Okt4 Epitope Deficiency | |
| Okur-Chung Neurodevelopmental Syndrome | |
| Old Thrombus | |
| Olfactory Groove Meningioma | |
| Olfactory Neuroblastoma | |
| Oligoanuria | |
| Oligoarticular Arthritis | |
| Oligoarticular Juvenile Idiopathic Arthritis | |
| Oligoasthenozoospermia | disease cluster belonging to disease group reproduction |
| Oligocone Trichromacy | |
| Oligodactyly | A developmental defect resulting in the presence of fewer than the normal number of digits. |
| Oligodendroblastoma | |
| Oligodendrogiloma | |
| Oligodendroglial Neoplasm | |
| Oligodendroglioma | A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm (&apos;honeycomb&apos; appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor of adults, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). It generally recurs locally, with median post-operative survival times ranging from 3 to 5 years for patients with all histological grades. (Adapted from WHO.) |
| Oligodontia | |
| Oligodontia-Colorectal Cancer Syndrome | |
| Oligohydramnios Sequence | |
| Oligomeganephronic Hypoplasia Of Kidney | |
| Oligospermia | |
| Oligosynaptic Infertility | |
| Oliver-Mcfarlane Syndrome | |
| Olivopontocerebellar Hypoplasia | Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. |
| Olmsted Syndrome | |
| Omenn Syndrome | A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells. |
| Omodysplasia | |
| Onchocerciasis | A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. |
| Onchocerciasis, Ocular | |
| Onchodermatitis | |
| Oncocytic Neoplasm | |
| Oncocytic Schneiderian Papilloma | |
| Oncocytoma, Renal | |
| Oncogenic Hypophosphataemic Osteomalacia | |
| Oncogenic Osteomalacia | |
| Oncovirus Infection | |
| One Vessel Coronary Disease | |
| Onset Of Psoriasis In Childhood (1-10 Years) | |
| Onychogryposis | |
| Onychogryposis Of Toenails | Thickened toenails. |
| Onycholysis | Detachment of the nail from the nail bed. |
| Onychomatricoma | |
| Onychomycosis | A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. |
| Onychopathy | |
| Onychotillomania | |
| Oocyte Maturation Defect | |
| Oophoritis | |
| Opalescent Dentin | |
| Open Comedone | |
| Ophiasis | |
| Ophthalmia, Sympathetic | |
| Ophthalmoplegia | |
| Ophthalmoplegia, Progressive Supranuclear | |
| Opiate Abuse | disease cluster belonging to disease group chemdependency |
| Opiate Addiction | disease cluster belonging to disease group chemdependency |
| Opiate Withdrawal Syndrome | |
| Opioid Abuse | A substance abuse that involves the recurring use of opioid drugs despite negative consequences. |
| Opioid Abuse And Addiction | |
| Opioid Use | |
| Opioid Use Disorder | |
| Opioid Use Disorder, Severe | |
| Opioid Withdrawal | |
| Opisthorchiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. |
| Opisthorchis Felineus Infection | |
| Opisthorchis Viverrini Infection | |
| Opisthorchis Viverrini-Related Cholangiocarcinoma | |
| Opitz Gbbb Syndrome, X-Linked | |
| Opitz Trigonocephaly Syndrome | |
| Opitz-G Syndrome | |
| Opium Addiction | |
| Opium Dependence | |
| Opium Use | |
| Oppenheim'S Disease | |
| Opposable Triphalangeal Thumb | A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. |
| Oppositional Defiant Disorder | |
| Opsismodysplasia | |
| Opsoclonus | Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. |
| Opsoclonus-Myoclonus Syndrome | Opsoclonus myoclonus syndrome (OMS) is a rare pediatric brain inflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia and behavioural and sleep disorders. |
| Optic Atrophy | Xref MGI. |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | |
| Optic Disc Edema | |
| Optic Disc Neovascularization | |
| Optic Disc Structural Anomaly | |
| Optic Disk Drusen | |
| Optic Nere Hypoplasia | |
| Optic Nerve Aplasia, Bilateral | |
| Optic Nerve Astrocytoma | |
| Optic Nerve Glioma | |
| Optic Nerve Oedema | |
| Optic Neuritis | An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. |
| Optic Neuropathy | |
| Optic Neuropathy, Ischemic | |
| Optic Perineuritis | |
| Optically Empty Vitreous | |
| Opticociliary Vessels | |
| Opticospinal Multiple Sclerosis | |
| Oral Aversion | |
| Oral Candida Albicans Infection | |
| Oral Candidiasis | A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. |
| Oral Cavity Carcinoma | |
| Oral Cavity Granular Cell Tumor | |
| Oral Cavity Mucosal Melanoma | |
| Oral Cleft | The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| Oral Condyloma Acuminatum | |
| Oral Dyskinesia | |
| Oral Fungal Infection | |
| Oral Herpes Simplex Infection | |
| Oral Intraepithelial Neoplasia | |
| Oral Mucositis | |
| Oral Papillomatosis | |
| Oral Paracoccidioidomycosis | |
| Oral Submucous Fibrosis | |
| Oral Ulcer | |
| Oral Wart | |
| Orbital Craniosynostosis | |
| Orbital Cyst | |
| Orbital Lymphoma | |
| Orbital Melanoma | |
| Orbital Pseudotumor | |
| Organ Dysfunction Syndrome | |
| Organ Surgical Site Infection | |
| Organic Brain Syndrome, Nonpsychotic | |
| Organic Disease | |
| Organic Mental Disorders, Psychotic | |
| Organic Mental Disorders, Substance-Induced | |
| Organic Writer'S Cramp | |
| Organized Pneumonia | |
| Organoid Nevus Phakomatosis | |
| Organophosphate Poisoning | |
| Organophosphorus Poisoning | |
| Organothiophosphate Poisoning | |
| Organothiophosphonate Poisoning | |
| Orgasmic Disorder | |
| Ornithine Carbamoyltransferase Deficiency | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. |
| Orofacial Cleft | |
| Orofaciodigital Syndrome | A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. |
| Oromotor Apraxia | |
| Oropharyngeal Cancer Recurrent | |
| Oropharyngeal Candidiasis | |
| Oropharyngeal Carcinoma | |
| Oropharyngeal Dysphagia | |
| Oropharyngeal Tularemia | |
| Oropharynx (Excludes Nasopharynx) | |
| Oroya Fever | |
| Orstavik Lindemann Solberg Syndrome | |
| Orthokeratinized Odontogenic Cyst | |
| Orthokeratotic Hyperkeratosis | |
| Orthostatic Hypertension | |
| Orthostatic Hypotension | A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. |
| Orthostatic Hypotensive Disorder, Streeten Type | |
| Orthostatic Syncope | |
| Os Trigonum Disorder | |
| Osler-Rendu-Weber Syndrome | |
| Osmotic Demyelination Syndrome | |
| Osmotic Diarrhea | Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. |
| Osseous Ankylosis | |
| Ossification Of The Posterior Longitudinal Ligament Of Spine | |
| Ossifying Fibroma | A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. |
| Ossifying Fibroma Of The Jaw | |
| Ossifying Fibromyxoid Tumor | |
| Ossifying Renal Tumor Of Infancy | |
| Osteitis | |
| Osteoarthritis | A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. |
| Osteoarthropathy | |
| Osteoarthrosis | |
| Osteoblastic Bone Metastases | |
| Osteoblastic Osteosarcoma | |
| Osteoblastoma | |
| Osteochondritis Dissecans | An ischemic bone disease that results_in necrosis located_in epiphysis. |
| Osteochondritis Juvenilis | |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type | |
| Osteochondromatosis | |
| Osteochondrosis | An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. |
| Osteoclast-Rich Osteopetrosis | |
| Osteodysplasia | |
| Osteodysplastic Primordial Dwarfism | |
| Osteodystrophy | |
| Osteofibrous Dysplasia | |
| Osteogenesis Imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| Osteogenic Neoplasm | |
| Osteoglophonic Dwarfism | |
| Osteoid Formation Disorder | |
| Osteoid Osteoma | |
| Osteolysis Involving Bones Of The Feet | |
| Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy | |
| Osteolytic Bone Lesion | |
| Osteoma | Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. |
| Osteoma Cutis | |
| Osteomalacia | A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. |
| Osteomalacia Due To Vitamin D Deficiency | |
| Osteomalacia Secondary To Drug | |
| Osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| Osteomyelitis Due To Staphylococcus Aureus | |
| Osteomyelitis Of Mandible | |
| Osteomyelitis Of Vertebra | |
| Osteomyelofibrosis | |
| Osteomyelosclerosis | |
| Osteonecrosis Of Jaw | |
| Osteopathia Striata | A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. |
| Osteopathia Striata Cranial Sclerosis | |
| Osteopenia | Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value. |
| Osteopenia Due To Disuse | |
| Osteopenia Periarticular | |
| Osteopenia/Osteoporosis | |
| Osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| Osteophyte | A small, abnormal bony outgrowth. |
| Osteopoikilosis (Disorder) | |
| Osteopoikilosis, Isolated | |
| Osteoporosis | Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. |
| Osteosarcoma | A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. |
| Osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| Osteosclerotic Metaphyseal Dysplasia | |
| Ostium Secundum Atrial Septal Defect | |
| Other Acute Reactions To Stress | |
| Other Alcohol-Induced Mental Disorders | |
| Other And Unspecified Reactive Psychosis | |
| Other Cardiomyopathies | |
| Other Cataract | |
| Other Chondrocalcinosis | |
| Other Chronic Tubulo-Interstitial Nephritis | |
| Other Combined Immunodeficiencies | |
| Other Congenital Anomalies Of Nervous System | |
| Other Congenital Corneal Malformations | |
| Other Congenital Ichthyosis | |
| Other Congenital Malformation Syndromes With Other Skeletal Changes | |
| Other Congenital Malformations Of Anterior Segment Of Eye | |
| Other Congenital Malformations Of Spine, Not Associated With Scoliosis | |
| Other Creutzfeldt-Jakob Disease | |
| Other Deletions Of Part Of A Chromosome | |
| Other Dermatoses | |
| Other Disorders Of Branched-Chain Amino-Acid Metabolism | |
| Other Disorders Of Lipoid Metabolism | |
| Other Doubling Of Uterus | |
| Other Epidermolysis Bullosa | |
| Other Headache Syndrome | |
| Other Hyperaldosteronism | |
| Other Hypoparathyroidism | |
| Other Malformations Of Cerebral Vessels | |
| Other Reduction Deformities Of Brain | |
| Other Restrictive Cardiomyopathy | |
| Other Specified Coagulation Defects | |
| Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm | |
| Other Specified Congenital Malformations Of Brain | |
| Other Specified Congenital Malformations Of Respiratory System | |
| Other Specified Congenital Malformations Of Skin | |
| Other Specified Diabetes Mellitus With Unspecified Complications | |
| Other Specified Disorders Of Adrenal Gland | |
| Other Specified Extrapyramidal And Movement Disorders | |
| Other Specified Forms Of Pleural Effusion, Except Tuberculous | |
| Other Specified Immunodeficiencies | |
| Other Specified Iron Deficiency Anemias | |
| Other Specified Nonscarring Hair Loss | |
| Other Specified Peritonitis | |
| Other Specified Schistosomiasis | |
| Other Specified Senile Psychotic Conditions | |
| Other Sphingolipidosis | |
| Other Stomatitis And Mucositis (Ulcerative) | |
| Otitis Externa | An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection. |
| Otitis Media | A otitis which involves inflammation of the middle ear. |
| Otitis Media In Children | |
| Otitis Media With Effusion | |
| Otitis Media, Susceptibility To (Finding) | |
| Oto-Palato-Digital Syndrome Type 1 | |
| Otocephaly | a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face |
| Otodental Dysplasia | |
| Otofaciocervical Syndrome | |
| Otopalatodigital Spectrum Disorder | |
| Otopalatodigital Syndrome | |
| Otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| Otospondylomegaepiphyseal Dysplasia | An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. |
| Ototoxicity | |
| Otulin-Related Autoinflammatory Syndrome | |
| Ovale Malaria | |
| Ovalocytosis, Malaysian-Melanesian-Filipino Type | |
| Ovarian Adenocarcinoma | |
| Ovarian Adenosarcoma | |
| Ovarian Cancer | A female reproductive organ cancer that is located_in the ovary. |
| Ovarian Cancer Stage Iv | |
| Ovarian Cancer, Disseminated | |
| Ovarian Carcinoid Tumor | |
| Ovarian Carcinoma | Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. |
| Ovarian Clear Cell Carcinoma | |
| Ovarian Cystadenoma | |
| Ovarian Cystic Disease | |
| Ovarian Cystic Teratoma | |
| Ovarian Cysts | |
| Ovarian Dysgenesis | |
| Ovarian Embryonal Carcinoma | An embryonal carcinoma that is located_in the ovary. |
| Ovarian Epithelial Cancer | |
| Ovarian Failure | |
| Ovarian Failure, Premature | |
| Ovarian Fetiform Teratoma | |
| Ovarian Fibromata | |
| Ovarian Fibrosis | |
| Ovarian Germ Cell Tumor | |
| Ovarian Germ Cell Tumour Mixed | |
| Ovarian Gonadoblastoma | |
| Ovarian Granulosa Cell Tumor | |
| Ovarian Gynandroblastoma | |
| Ovarian Hyperstimulation Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous | |
| Ovarian Insufficiency | |
| Ovarian Microcystic Stromal Tumor | |
| Ovarian Mucinous Adenocarcinoma | |
| Ovarian Mucinous Tumor | |
| Ovarian Neoplasm | |
| Ovarian Papillary Adenocarcinoma | The presence of a papillary adenocarcinoma of the ovary. |
| Ovarian Papillary Serous Carcinoma | |
| Ovarian Sclerosing Stromal Tumor | |
| Ovarian Serous Adenocarcinoma | |
| Ovarian Serous Surface Papillary Adenocarcinoma | |
| Ovarian Serous Tumor | |
| Ovarian Small Cell Carcinoma, Hypercalcemic Type | |
| Ovarian Teratoma | |
| Ovarian Thecoma | |
| Ovarian Transitional Cell Carcinoma | |
| Ovarioleukodystrophy | |
| Overactive Bladder | |
| Overactive Bladder Syndrome | |
| Overanxious Disorder | |
| Overbite | Maxillary teeth cover the mandibular teeth when biting to an increased degree. |
| Overdose Of Cocaine | |
| Overgrowth Syndrome | |
| Overlap Connective Tissue Disease | |
| Overlap Syndrome | |
| Overlapping Fingers | A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. |
| Overproduction Of Growth Hormone | |
| Overriding Aorta | An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. |
| Overriding Structures | |
| Overriding Toe | |
| Overt Primary Myelofibrosis | |
| Overweight And Obesity | |
| Ovotesticular Differences Of Sex Development | |
| Ovotesticular Disorders Of Sex Development | |
| Ovotestis | A hermaphrodite gonad (as in some scale insects). |
| Oxalate Crystalluria | |
| Oxalosis | |
| Oxidative Phosphorylation Deficiencies | |
| Oxyphilic Adenoma | |
| Ozena (Disorder) | |
| Pacemaker Ddd | |
| Pachygyria | A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex. |
| Pachygyria, Frontotemporal | |
| Pachymeningitis | |
| Pachyonychia Congenita | OMIM mapping confirmed by DO. [SN]. |
| Pachyonychia Congenita, Jadassohn Lewandowsky Type | |
| Pachyonychia Congenita, Type 2 (Disorder) | |
| Pacing-Induced Cardiomyopathy | |
| Page Kidney | |
| Paget Disease | |
| Pagetoid Reticulosis | |
| Pai-1 4G/5G Polymorphism | |
| Pai-1 Polymorphism | |
| Pain Disorder | A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. |
| Painful Bladder Syndrome | |
| Palatal Neoplasms | |
| Palindromic Rheumatism | A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. |
| Palisaded Myofibroblastoma | |
| Pallidal Degeneration | Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. |
| Pallidoluysian Degeneration | |
| Pallidopontonigral Degeneration | |
| Pallister-Hall Syndrome | OMIM mapping confirmed by DO. [SN]. |
| Pallister-Killian Syndrome | |
| Palmar Hyperkeratosis | Hyperkeratosis affecting the palm of the hand. |
| Palmar Telangiectasia | The presence of telangiectases on the skin of palm of hand. |
| Palmar-Plantar Erythrodysesthesia Syndrome | |
| Palmoplantar Hyperkeratosis And True Hermaphroditism | |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And Sex Reversal | |
| Palmoplantar Keratoderma | |
| Palmoplantar Keratoderma Nagashima Type | |
| Palmoplantar Keratoderma With Deafness | |
| Palmoplantar Keratosis | A keratosis characterized by abnormal thickening of the palms and the soles. |
| Palmoplanter Carcinoma | |
| Palmoplanter Hyperkeratosis | |
| Panacinar Emphysema | |
| Panarteritis | |
| Panayiotopoulos Syndrome | |
| Pancoast Tumor | |
| Pancolitis | |
| Pancreas Divisum | disease cluster belonging to disease group unknown |
| Pancreas Exocrine | |
| Pancreatic Acinar Atrophy | |
| Pancreatic Adenocarcinoma Metastatic | |
| Pancreatic Adenocarcinoma Resectable | |
| Pancreatic Adenosquamous Carcinoma | |
| Pancreatic Agenesis | |
| Pancreatic Agenesis, Congenital | |
| Pancreatic Cancer | An endocrine gland cancer located_in the pancreas. |
| Pancreatic Cancer, Adult | |
| Pancreatic Carcinoma | A carcinoma that is manifested in cells found in the tissues of the pancreas.|Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).|A carcinoma that is located_in cells found in the tissues of the pancreas. |
| Pancreatic Cholera | |
| Pancreatic Cyst | |
| Pancreatic Duct Stenosis | |
| Pancreatic Ductal Adenocarcinoma | A pancreas adenocarcinoma that derives_from pancreatic duct cells. |
| Pancreatic Endocrine Carcinoma | An islet cell tumor that has_material_basis_in epithelial cells. |
| Pancreatic Enlargement | |
| Pancreatic Fistula | |
| Pancreatic Infection | |
| Pancreatic Insufficiency | |
| Pancreatic Intraductal Neoplasms | |
| Pancreatic Intraductal Papillary Mucinous Neoplasm | |
| Pancreatic Intraductal Papillary-Mucinous Adenoma | |
| Pancreatic Intraepithelial Neoplasia | |
| Pancreatic Islet Cell Adenoma | The presence of an adenoma of the pancreas with origin in a pancreatic B cell. |
| Pancreatic Islet Cell Tumors | |
| Pancreatic Lipase Deficiency | |
| Pancreatic Malabsorption | |
| Pancreatic Neoplasm | |
| Pancreatic Neuroendocrine Tumour Metastatic | |
| Pancreatic Pseudocyst | Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. |
| Pancreatic Somatostatinoma | |
| Pancreatic Squamous Cell Carcinoma | A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. |
| Pancreatic Steatosis | |
| Pancreatic Toxicity | |
| Pancreatic Triacylglycerol Lipase Deficiency | |
| Pancreatic Trypsinogen Deficiency | |
| Pancreatic Vipoma | |
| Pancreaticobiliary Malunion | |
| Pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| Pancreatitis As A Complication | |
| Pancreatitis Biliary | |
| Pancreatitis Idiopathic | |
| Pancreatoblastoma | |
| Pancytopenia | |
| Panencephalitis | |
| Pangastritis | |
| Pangastrointestinal System Dysfunction | |
| Panhypopituitarism | |
| Panhypopituitarism - X-Linked | |
| Panic Attacks | |
| Panic Disorder | An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. |
| Panic Disorder With Agoraphobia | |
| Panic Disorder Without Agoraphobia | |
| Panniculitis | |
| Panniculitis, Lupus Erythematosus | |
| Panniculitis, Nodular Nonsuppurative | |
| Panniculus | |
| Panperitonitis | |
| Panuveitis | |
| Papillary Adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. |
| Papillary Adenoma | |
| Papillary Carcinoma | A carcinoma that is derived_from epithelial cells with finger like projections. |
| Papillary Craniopharyngioma | |
| Papillary Cystadenoma Of The Epididymis | The presence of a papillary cystadenoma of the epididymis. |
| Papillary Cystic Tumor | |
| Papillary Ependymoma | |
| Papillary Glioneuronal Tumor | |
| Papillary Lung Adenocarcinoma | |
| Papillary Meningioma | |
| Papillary Microcarcinoma | |
| Papillary Neoplasm | |
| Papillary Renal Cell Carcinoma | A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. |
| Papillary Serous Cystadenocarcinoma | |
| Papillary Serous Endometrial Carcinoma | |
| Papillary Squamous Cell Carcinoma | |
| Papillary Thyroid Cancer | disease cluster belonging to disease group cancer |
| Papillary Thyroid Carcinoma | A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. |
| Papillary Thyroid Microcarcinoma | |
| Papillary Transitional Cell Carcinoma | |
| Papillary Transitional Cell Neoplasm Of Low Malignant Potential | |
| Papillary Tumor Of The Pineal Region | |
| Papillary Urothelial Carcinoma | |
| Papilledema | |
| Papilloma | A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. |
| Papillomatosis | |
| Papillon-Lefevre Disease | OMIM mapping confirmed by DO. [SN]. |
| Papillorenal Syndrome | |
| Papillorenal Syndrome With Macular Abnormalities | |
| Papulopustular Rosacea | |
| Parachordoma | |
| Parachute Malformation Of Mitral Valve | |
| Paracoccidioidomycosis | A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. |
| Paradoxical Myotonia | A type of myotonia that worsens with repeated muscle contractions. |
| Parafoveal Telangiectasia | |
| Paraganglioma | Xref MGI. |
| Paraganglioma Of Head And Neck | |
| Paragangliomas With Sensorineural Hearing Loss | |
| Paragonimiasis | A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. |
| Parainfluenza | |
| Parakeratosis | Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. |
| Parakeratosis Variegata | |
| Paralysis Radial | |
| Paralytic Ileus | |
| Paralytic Rabies | |
| Paralytic Strabismus | |
| Paralytic Stroke | |
| Paramyotonia Congenita | |
| Paranasal Sinus And Nasal Cavity Cancer | |
| Paranasal Sinus Teratocarcinosarcoma (Type) | |
| Paraneoplastic Cerebellar Degeneration | |
| Paraneoplastic Cerebellar Degeneration, Anti-Yo-Associated | |
| Paraneoplastic Dermatomyositis | |
| Paraneoplastic Encephalitis | |
| Paraneoplastic Encephalomyelitis | |
| Paraneoplastic Myositis | |
| Paraneoplastic Opsoclonus-Myoclonus Ataxia | |
| Paraneoplastic Optic Neuropathy | |
| Paraneoplastic Pemphigus | |
| Paraneoplastic Polyneuropathy | |
| Paraneoplastic Retinopathy | |
| Paraneoplastic Syndromes, Ocular | |
| Paranoia | A persecutory delusion of supposed hostility of others. |
| Paranoid Delusion | |
| Paranoid Ideation | |
| Paranoid Schizophrenia | A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. |
| Paraplegia | |
| Paraproteinemias | |
| Parapsoriasis | |
| Paraquat Lung | |
| Parasagittal Meningioma | |
| Parasitemia | |
| Parastremmatic Dwarfism | Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. |
| Parasympathetic Paraganglioma | |
| Parathyroid Adenoma | |
| Parathyroid Adenoma, Somatic | |
| Parathyroid Cancer | |
| Parathyroid Gland Adenocarcinoma | |
| Parathyroid Hormone-Related Peptide-Secreting Tumor | |
| Parathyroid Hyperplasia | Hyperplasia of the parathyroid gland. |
| Parathyroid Hypoplasia | Developmental hypoplasia of the parathyroid gland. |
| Parathyroiditis | |
| Paratracheal Lymphadenopathy | |
| Paratubal Cyst | |
| Paratuberculosis | |
| Paratyphoid Fever | A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. |
| Paravalvular Aortic Regurgitation | |
| Paravenous Chorioretinal Atrophy | |
| Parenteral Nutrition Associated Liver Disease | |
| Parietal Cortical Atrophy | |
| Parietal Foramina | NT MGI. |
| Parietal Foramina With Cleidocranial Dysplasia | |
| Paris-Trousseau Thrombocytopenia | |
| Parkinson Disease | |
| Parkinsonism | Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| Paronychia Inflammation | |
| Parosteal Lipoma | |
| Parosteal Osteosarcoma | |
| Parotid Gland Adenocarcinoma | |
| Parotid Gland Carcinoma | |
| Parotid Oncocytoma | |
| Parotitis | A parotid disease characterized by the inflammation of one or both parotid glands. |
| Paroxysmal Atrial Fibrillation | Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. |
| Paroxysmal Drowsiness | Attacks of disabling daytime drowsiness and low alertness. |
| Paroxysmal Extreme Pain Disorder | |
| Paroxysmal Familial Ventricular Fibrillation | |
| Paroxysmal Hypertension | |
| Paroxysmal Kinesigenic Choreoathetosis | |
| Paroxysmal Nocturnal Hemoglobinuria | NT MGI. |
| Paroxysmal Nonkinesigenic Dyskinesia | |
| Paroxysmal Supraventricular Tachycardia | An episodic form of supraventricular tachycardia with abrupt onset and termination. |
| Paroxysmal Sympathetic Hyperactivity | |
| Paroxysmal Ventricular Tachycardia | |
| Partial Absence Of Cerebellar Vermis | |
| Partial Adenosine Deaminase Deficiency | |
| Partial Agenesis Of Corpus Callosum | |
| Partial Androgen Resistance | |
| Partial Atrioventricular Canal | |
| Partial Defect Of Atrioventricular Canal | |
| Partial Diabetes Insipidus | |
| Partial Duplication Of The Distal Phalanx Of The 2Nd Finger | Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. |
| Partial Duplication Of The Distal Phalanx Of The 3Rd Finger | Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. |
| Partial Duplication Of Thumb Phalanx | A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. |
| Partial Fetal Alcohol Syndrome | A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. |
| Partial Hypopituitarism | |
| Partial Lipodystrophy | |
| Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome | |
| Partial Nephrogenic Diabetes Insipidus | |
| Partial Or Complete Agenesis Of Corpus Callosum | |
| Partial Paralysis (Paresis) Vocal Cords | |
| Partial Stenosis | |
| Partial Trisomy | |
| Partial Trisomy Of Chromosome 17 | |
| Partington X-Linked Mental Retardation Syndrome | |
| Parvovirus B19 (Disease) | |
| Passenger Lymphocyte Syndrome | |
| Patau Syndrome | OMIM mapping confirmed by DO. [LS]. |
| Patchy Hypo- And Hyperpigmentation | |
| Patchy Palmoplantar Keratoderma | A focal type of palmoplantar keratoderma in whichonly certain areas of the palms and soles are affected. |
| Patellar Aplasia | Absence of the patella. |
| Patent Ductus Arteriosus | OMIM mapping confirmed by DO. [SN]. |
| Patent Ductus Arteriosus - Persisting Type | |
| Patent Ductus Arteriosus After Birth At Term | |
| Patent Ductus Arteriosus Familial | |
| Patent Ductus Venosus | failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults |
| Patent Or Persistent Ostium Secundum Defect (Type Ii) | |
| Patent Or Persistent Sinus Venosus Defect | |
| Paternal Uniparental Disomy Of Chromosome 20 | |
| Paternal Uniparental Disomy Of Chromosome 6 | |
| Pathergy | |
| Pathological Personality Nos | |
| Pattern Dystrophy Of The Retina | |
| Patterned Dystrophy Of Retinal Pigment Epithelium | |
| Patulous Eustachian Tube | A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. |
| Pauci-Immune Glomerulonephritis | |
| Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis | |
| Pauciarticular Juvenile Rheumatoid Arthritis | |
| Paucigranulocytic Asthma | |
| Pearson'S Marrow-Pancreas Syndrome | |
| Pectoral Muscle Hypoplasia/Aplasia | |
| Pectoralis Amyotrophy | |
| Pectus Excavatum | A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance. |
| Pediatric Aids | |
| Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections | |
| Pediatric Crohn'S Disease | |
| Pediatric Failure To Thrive | |
| Pediatric Follicular Lymphoma | |
| Pediatric Human Immunodeficiency Virus Infection | |
| Pediatric Intraocular Retinoblastoma | |
| Pediatric Nodal Marginal Zone Lymphoma | |
| Pediatric Obesity | |
| Pediatric Ulcerative Colitis | |
| Pediculus Capitis Infestation | |
| Peeling Skin Syndrome | NT MGI. |
| Peeling Skin Syndrome, Acral Type | |
| Peg-Shaped Teeth | |
| Peho Syndrome | |
| Pelger-Huet Anomaly | OMIM mapping confirmed by DO. [SN]. |
| Peliosis Hepatis | |
| Pelizaeus-Merzbacher Disease | OMIM mapping confirmed by DO. [SN]. |
| Pelomorphic Xanthaostrocytoma | |
| Pelvic Adhesions | |
| Pelvic Bone Exostoses | |
| Pelvic Cancer | |
| Pelvic Floor Disorders | |
| Pelvic Girdle Amyotrophy | Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. |
| Pelvic Girdle Muscle Atrophy | Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). |
| Pelvic Hypoplasia | |
| Pelvic Insufficiency Fracture | |
| Pelvic Kidney | A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. |
| Pelvic Organ Prolapse | Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. |
| Pelvic Prolapse | |
| Pelviscapular Dysplasia | |
| Pemphigoid Nodularis | |
| Pemphigoid, Benign Mucous Membrane | |
| Pemphigus | |
| Pemphigus And Fogo Selvagem | |
| Pemphigus Foliaceus | |
| Pemphigus Herpetiformis | |
| Pemphigus Neonatorum | |
| Pemphigus Vegetans | |
| Pemphigus Vulgaris | An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes. |
| Pena-Shokeir Syndrome | |
| Pendred'S Syndrome | |
| Pendular Nystagmus | Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. |
| Penetrating Foot Ulcers | |
| Penile Hypospadias | Location of the urethral opening on the inferior aspect of the penis. |
| Penile Intraepithelial Neoplasia | |
| Penis Agenesis | |
| Penis Carcinoma | A penile cancer that is located_in the skin or tissues of the penis. |
| Pentalogy Of Cantrell | |
| Pentosuria | Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. |
| Penttinen-Aula Syndrome | |
| Peptic Esophagitis | |
| Peptic Ulcer | An ulcer of the gastrointestinal tract. |
| Peptic Ulcer Of Esophagus | |
| Peptic Ulcer Perforation | |
| Perceptual Disturbance | |
| Perennial Allergic Conjunctivitis | |
| Perforation Of Colon | |
| Perforin Deficiency | |
| Performance Anxiety | |
| Peri-Implant Mucositis | |
| Peri-Implantitis | |
| Periampullary Adenocarcinoma | |
| Perianal Abscess | The presence of an abscess located around the anus. |
| Perianal Crohn'S Disease | |
| Perianal Fistula | |
| Perianal Squamous Intraepithelial Neoplasia | |
| Perianal Warts | |
| Periapical Granuloma | |
| Periapical Periodontitis | |
| Periapical Tooth Abscess | |
| Periarteritis | |
| Periarticular Calcification | |
| Periarticular Osteoporosis | |
| Periauricular Skin Pits | Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. |
| Pericardial Constriction With Growth Failure | |
| Pericardial Effusion | A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. |
| Pericardial Effusion, Chronic | |
| Pericardial Mesothelioma | |
| Pericardial Solitary Fibrous Tumor | |
| Pericardial Thickening | |
| Pericarditis | A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. |
| Pericarditis, Constrictive | |
| Pericarditis, Tuberculous | |
| Pericementitis | |
| Pericytic Neoplasm | |
| Periductal Mastitis | |
| Perifollicular Hyperkeratosis | |
| Perifolliculitis | Inflammation surrounding hair follicles. |
| Perifolliculitis Capitis Abscedens | |
| Perihilar Cholangiocarcinoma | |
| Perilobar Nephroblastomatosis | |
| Perimembranous Ventricular Septal Defect | A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. |
| Perimyocarditis |
