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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, fl |
