DisGeNET Gene-Disease Associations Dataset

Description gene-disease associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature
Measurement genetic association by data aggregation from genome-wide association and other genetic association studies
Association gene-disease associations curated from genetic association studies
Category disease or phenotype associations
Resource DisGeNET
Citation(s)
Last Updated 2023 Mar 29
Stats
  1. 15960 genes
  2. 15709 diseases
  3. 652358 gene-disease associations

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  • Gene Similarity

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disease Gene Sets

15709 sets of genes associated with diseases in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gene Set Description
(Idiopathic) Normal Pressure Hydrocephalus
(Non-Specific) Purulent Meningitis
11-Beta-Hydroxylase Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
12P12.1 Microdeletion Syndrome
14Q11.2 Microduplication Syndrome
14Q12 Microdeletion Syndrome
15Q Overgrowth Syndrome
15Q24 Microdeletion
16Q24.3 Microdeletion Syndrome
17,20-Desmolase Deficiency
17,20-Lyase Deficiency, Isolated
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency
17Q12 Microdeletion Syndrome
1P31P32 Microdeletion Syndrome
1Q41Q42 Microdeletion Syndrome
1Q44 Microdeletion Syndrome
2,4-Dienoyl-Coa Reductase Deficiency
2,8-Dihydroxyadenine Urolithiasis
2-Aminoadipic 2-Oxoadipic Aciduria
2-Methylbutyryl-Coa Dehydrogenase Deficiency
2-Methylbutyrylglycinuria
20P12.3 Microdeletion Syndrome
21-Hydroxylase Deficiency
22Q11 Deletion Syndrome
22Q11 Partial Monosomy Syndrome
22Q13.3 Deletion Syndrome
2P21 Microdeletion Syndrome
2P21 Microdeletion Syndrome Without Cystinuria
2Q23.1 Microdeletion Syndrome
2Q32Q33 Microdeletion Syndrome
2Q33.1 Microdeletion Syndrome
3 Beta-Hydroxysteroid Dehydrogenase Deficiency
3-Beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
3-Hydroxyisobutyric Aciduria
3-Methylcrotonyl Coa Carboxylase 1 Deficiency
3-Methylcrotonyl Coa Carboxylase 2 Deficiency
3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
3-Phosphoglycerate Dehydrogenase Deficiency
3C Syndrome 3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome.
46, Xx Disorders Of Sex Development
46, Xx Sex Reversal
46, Xx True Hermaphrodite
46, Xy Disorders Of Sex Development
46, Xy Female
46, Xy Sex Reversal
46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Partial Gonadal Dysgenesis
46,Xy True Hermaphroditism, Sry-Related
47, Xyy Syndrome
4Q Partial Monosomy Syndrome
5,10-Methylenetetrahydrofolate Reductase Deficiency
5-Alpha Reductase Deficiency
5-Oxoprolinase Deficiency
5P13 Microduplication Syndrome
5Q-Syndrome
5Q14.3 Microdeletion Syndrome
5Q35 Microduplication Syndrome
6 Alpha Mercaptopurine Sensitivity
6-Phosphogluconolactonase Deficiency
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
6Q Terminal Deletion Syndrome
6Q24-Related Transient Neonatal Diabetes Mellitus
6Q25 Microdeletion Syndrome
7-Dehydrocholesterol Reductase Deficiency
7Q31 Microdeletion Syndrome
8P11.2 Deletion Syndrome
9P Partial Monosomy Syndrome
9Q22.3 Microdeletion
Aa Amyloidosis
Aarskog Syndrome
Aase Smith Syndrome 2
Aase Syndrome
Abcd Syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
Abdominal Abscess
Abdominal Adhesions
Abdominal Aortic Atherosclerosis
Abdominal Cocoon
Abdominal Compartment Syndrome
Abdominal Cryptorchidism
Abdominal Migraine
Abdominal Obesity Metabolic Syndrome
Abdominal Obesity-Metabolic Syndrome 1
Abdominal Obesity-Metabolic Syndrome 3
Abdominal Sepsis
Abdominal Tuberculosis An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
Abducens Nerve Palsy
Aberrant Right Subclavian Artery
Abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
Ablepharon Absent eyelids.
Ablepharon-Macrostomia Syndrome
Abnormal Adipose Tissue Morphology any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue
Abnormal Aortic Morphology
Abnormal Aortic Valve Physiology
Abnormal Axonemal Organization Of Respiratory Motile Cilia Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.
Abnormal B Cell Morphology any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens
Abnormal Bone Formation
Abnormal Bone Ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
Abnormal Bone Structure Any anomaly in the composite material or the layered arrangement of the bony skeleton.
Abnormal Brain Fdg Positron Emission Tomography
Abnormal Cardiac Ventricle Morphology
Abnormal Carotid Artery Morphology any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid
Abnormal Cartilage Collagen Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.
Abnormal Cerebral Artery Morphology
Abnormal Chorioretinal Morphology
Abnormal Choroid Morphology
Abnormal Ciliary Motility Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.
Abnormal Circulating Renin
Abnormal Cns Myelination An abnormality of myelination of nerves in the central nervous system.
Abnormal Cochlea Morphology any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound
Abnormal Conjunctiva Morphology any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball
Abnormal Corneal Endothelium Morphology any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea
Abnormal Cortical Bone Morphology An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
Abnormal Dermatoglyphic Pattern
Abnormal Diaphysis Morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
Abnormal Drinking Behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
Abnormal Enchondral Ossification An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
Abnormal External Genitalia
Abnormal Eyelid Morphology any structural anomaly of the skin folds covering the front of the eyeball
Abnormal Facial Expression
Abnormal Fear/Anxiety-Related Behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
Abnormal Flash Visual Evoked Potentials Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.
Abnormal Foot Bone Ossification An abnormality of the formation and mineralization of any bone of the skeleton of foot.
Abnormal Foveal Morphology
Abnormal Globus Pallidus Morphology any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment
Abnormal Granulocytopoietic Cell Morphology
Abnormal Hair Pattern An abnormality of the distribution of hair growth.
Abnormal Hair Quantity An abnormal amount of hair.
Abnormal Hand Morphology Any structural anomaly of the hand.
Abnormal Hypothalamus Morphology Any structural anomaly of the hypothalamus.
Abnormal Internal Carotid Artery Morphology any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes
Abnormal Involuntary Eye Movements Anomalous movements of the eyes that occur without the subject wanting them to happen.
Abnormal Involuntary Movement anomaly in movements that occur independent of planning (e.g. reflexive behavior)
Abnormal Large Intestine Morphology any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal
Abnormal Lipid Deposits
Abnormal Liver Function Tests During Pregnancy
Abnormal Liver Lobulation
Abnormal Localization Of Kidney An abnormal site of the kidney.
Abnormal Lung Lobation Defects in the formation of pulmonary lobules.
Abnormal Male Sexual Function
Abnormal Megakaryocyte Morphology any structural anomaly of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm
Abnormal Mitochondria In Muscle Tissue An abnormality of the mitochondria in muscle tissue.
Abnormal Mitral Valve Morphology any structural anomaly of the valve between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus)
Abnormal Motor Neuron Morphology Any structural anomal that affects the motor neuron.
Abnormal Nasal Morphology This is a category for overall abnormal morphology that may be replaced later with more exact descriptions.
Abnormal Nasolacrimal System Morphology
Abnormal Natural Killer Cell Morphology
Abnormal Neuron Morphology A structural anomaly of a neuron.
Abnormal Oral Cavity Morphology
Abnormal Oral Frenulum Morphology
Abnormal Oral Mucosa Morphology
Abnormal Palate Morphology any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)
Abnormal Palmar Creases
Abnormal Palmar Dermatoglyphics An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.
Abnormal Pelvis Bone Ossification An abnormality of the formation and mineralization of any bone of the bony pelvis.
Abnormal Peripheral Myelination An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
Abnormal Peripheral Nervous System Morphology
Abnormal Platelet Granules An anomaly of alpha or dense granules or platelet lysosomes.
Abnormal Platelet Shape A deviation from the normal discoid platelet shape.
Abnormal Renal Morphology Any structural anomaly of the kidney.
Abnormal Respiratory Motile Cilium Morphology Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.
Abnormal Saccadic Eye Movement
Abnormal Sacrum Morphology
Abnormal Scrotal Rugation
Abnormal Sex Determination Anomaly of primary or secondary sexual development or characteristics.
Abnormal Size Of Pituitary Gland A deviation from the normal size of the pituitary gland.
Abnormal Soft Palate Morphology any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult
Abnormal Sperm Development
Abnormal Temper Tantrums
Abnormal Temporal Bone Morphology any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous
Abnormal Thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Abnormal Trabecular Bone Morphology Abnormal structure or form of trabecular bone.
Abnormal Tracheobronchial Morphology
Abnormal Tricuspid Valve Morphology any structural anomaly of the valve located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (anulus)
Abnormal Type Ii Collagen
Abnormal Umbilical Cord
Abnormal Umbilical Stump Bleeding Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
Abnormal Upper Motor Neuron Morphology Any structural anomaly that affects the upper motor neuron.
Abnormal Urine Alpha-Ketoglutarate Concentration
Abnormal Ventricular Septum Morphology
Abnormal Vertebral Segmentation And Fusion
Abnormal Vestibulo-Ocular Reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
Abnormal Vitreous Humor Morphology
Abnormal Yolk Sac
Abnormalities Of Placenta Or Umbilical Cord An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).
Abnormality Iris Morphology
Abnormality Of Abdomen Morphology
Abnormality Of Aortic Arch
Abnormality Of Aortic Valve
Abnormality Of Blood And Blood-Forming Tissues An abnormality of the hematopoietic system.
Abnormality Of Body Height Deviation from the norm of height with respect to that which is expected according to age and gender norms.
Abnormality Of Bone Marrow Cell Morphology An anomaly of the form or number of cells in the bone marrow.
Abnormality Of Bone Mineral Density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Abnormality Of Canine
Abnormality Of Cardiovascular System Morphology
Abnormality Of Connective Tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
Abnormality Of Corneal Stroma An abnormality of the stroma of cornea, also known as the substantia propria of cornea.
Abnormality Of Cortisol-Binding Globulin
Abnormality Of Dentin Any abnormality of dentin.
Abnormality Of Earlobe An abnormality of the lobule of pinna.
Abnormality Of Female External Genitalia An abnormality of the female external genitalia.
Abnormality Of Female Internal Genitalia An abnormality of the female internal genitalia.
Abnormality Of Femoral Epiphysis An anomaly of a growth plate of a femur.
Abnormality Of Femur Morphology
Abnormality Of Fibula Morphology
Abnormality Of Fontanelles An abnormality of the fontanelle.
Abnormality Of Hair Density An abnormality of the density of hair growth.
Abnormality Of Hair Growth Rate Hair whose growth rate deviates from the norm.
Abnormality Of Hair Texture An abnormality of the texture of the hair.
Abnormality Of Lateral Ventricle A morphological anomal of the lateral ventricle.
Abnormality Of Limb Bone Morphology Any abnormality of bones of the arms or legs.
Abnormality Of Lower Limb Joint
Abnormality Of Lower Lip An abnormality of the lower lip.
Abnormality Of Macular Pigmentation Abnormality of macular or foveal pigmentation.
Abnormality Of Male Internal Genitalia An abnormality of the male internal genitalia.
Abnormality Of Multiple Cell Lineages In The Bone Marrow
Abnormality Of Nail Color An anomaly of the color of the nail.
Abnormality Of Neck Blood Vessel
Abnormality Of Nervous System Morphology A structural anomaly of the nervous system.
Abnormality Of Neurogenesis
Abnormality Of Pelvic Girdle Bone Morphology An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Abnormality Of Prenatal Development Or Birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
Abnormality Of Primary Molar Morphology An abnormality of morphology of primary molar.
Abnormality Of Pulmonary Valve
Abnormality Of Refraction An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
Abnormality Of Renal Excretion An altered ability of the kidneys to void urine and/or specific substances.
Abnormality Of Secondary Sexual Hair Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.
Abnormality Of Thalamus Morphology An abnormality of the thalamus.
Abnormality Of The Abdominal Wall The presence of any abnormality affecting the abdominal wall.
Abnormality Of The Acetabulum An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.
Abnormality Of The Achilles Tendon An abnormality of the Achilles tendon.
Abnormality Of The Adrenal Glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Abnormality Of The Ankles
Abnormality Of The Antihelix An abnormality of the antihelix.
Abnormality Of The Antitragus An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.
Abnormality Of The Anus Abnormality of the anal canal.
Abnormality Of The Aryepiglottic Fold An abnormality of the aryepiglottic fold.
Abnormality Of The Breast An abnormality of the breast.
Abnormality Of The Calcaneus An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.
Abnormality Of The Calf Musculature
Abnormality Of The Cerebellar Vermis An anomaly of the vermis of cerebellum.
Abnormality Of The Cerebral Cortex An abnormality of the cerebral cortex.
Abnormality Of The Cerebral Vasculature
Abnormality Of The Cerebral Ventricles Abnormality of the cerebral ventricles.
Abnormality Of The Cerebrum An abnormality of the telencephalon, which is also known as the cerebrum.
Abnormality Of The Cheek
Abnormality Of The Clavicle Any abnormality of the clavicles (collar bones).
Abnormality Of The Clitoris An abnormality of the clitoris.
Abnormality Of The Cochlear Nerve
Abnormality Of The Columella An abnormality of the columella.
Abnormality Of The Cranial Nerves
Abnormality Of The Dentate Nucleus An abnormality of the dentate nucleus.
Abnormality Of The Elbow An anomaly of the joint that connects the upper and the lower arm.
Abnormality Of The Endocrine System
Abnormality Of The Epididymis An abnormality of the epididymis.
Abnormality Of The Epiphysis Of The Femoral Head Any abnormality of the proximal epiphysis of the femur.
Abnormality Of The Femoral Metaphysis An anomaly of the femoral metaphysis.
Abnormality Of The Fifth Metatarsal Bone An anomaly of the fifth metatarsal bone.
Abnormality Of The Fingertips
Abnormality Of The First Metatarsal Bone An anomaly of the first metatarsal bone.
Abnormality Of The Fontanelles Or Cranial Sutures Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ).
Abnormality Of The Forearm An abnormality of the lower arm.
Abnormality Of The Gastric Mucosa An abnormality of the gastric mucous membrane.
Abnormality Of The Gingiva Any abnormality of the gingiva (also known as gums).
Abnormality Of The Hairline The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.
Abnormality Of The Head An abnormality of the head.
Abnormality Of The Hip Bone An abnormality of the hip bone.
Abnormality Of The Hip Joint An abnormality of the hip joint.
Abnormality Of The Humerus An abnormality of the humerus (i.e., upper arm bone).
Abnormality Of The Hypothalamus-Pituitary Axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
Abnormality Of The Ilium An abnormality of the ilium, the largest and uppermost bone of the pelvis.
Abnormality Of The Immune System An abnormality of the immune system.
Abnormality Of The Integument An abnormality of the integument, which consists of the skin and the superficial fascia.
Abnormality Of The Intervertebral Disk An abnormality of the intervertebral disk.
Abnormality Of The Intrahepatic Bile Duct An abnormality of the intrahepatic bile duct.
Abnormality Of The Joint Spaces Of The Elbow
Abnormality Of The Knee
Abnormality Of The Labia An anomaly of the labia, the externally visible portions of the vulva.
Abnormality Of The Labia Majora An anomaly of the outer labia.
Abnormality Of The Leydig Cells
Abnormality Of The Lymphatic System
Abnormality Of The Mastoid An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.
Abnormality Of The Menstrual Cycle An abnormality of the ovulation cycle.
Abnormality Of The Metacarpal Bones An abnormality of the metacarpal bones.
Abnormality Of The Metaphysis
Abnormality Of The Mitochondrion An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.
Abnormality Of The Musculature Of The Lower Limbs
Abnormality Of The Nares Abnormality of the nostril.
Abnormality Of The Nasal Bridge Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.
Abnormality Of The Nasopharynx The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate.
Abnormality Of The Outer Ear An abnormality of the external ear.
Abnormality Of The Ovary An abnormality of the ovary.
Abnormality Of The Palpebral Fissures An anomaly of the space between the medial and lateral canthi of the two open eyelids.
Abnormality Of The Pancreas An abnormality of the pancreas.
Abnormality Of The Pancreatic Islet Cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.
Abnormality Of The Parathyroid Gland An abnormality of the parathyroid gland.
Abnormality Of The Parathyroid Physiology A functional abnormality of the parathyroid gland.
Abnormality Of The Penis
Abnormality Of The Periosteum
Abnormality Of The Peritoneum An abnormality of the peritoneum.
Abnormality Of The Periungual Region An abnormality of the region around the nails of the fingers or toes.
Abnormality Of The Periventricular White Matter
Abnormality Of The Pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
Abnormality Of The Pleura An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
Abnormality Of The Pons An abnormality of the pons.
Abnormality Of The Preputium
Abnormality Of The Radius An abnormality of the radius.
Abnormality Of The Respiratory System An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Abnormality Of The Rib Cage A morphological anomaly of the rib cage.
Abnormality Of The Ribs An anomaly of the rib.
Abnormality Of The Scapula Any abnormality of the scapula, also known as the shoulder blade.
Abnormality Of The Scrotum
Abnormality Of The Shoulder An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Abnormality Of The Skeletal System An abnormality of the skeletal system.
Abnormality Of The Skull Base An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.
Abnormality Of The Small Intestine An abnormality of the small intestine.
Abnormality Of The Spleen An abnormality of the spleen.
Abnormality Of The Stapes An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.
Abnormality Of The Stomach An abnormality of the stomach.
Abnormality Of The Thoracic Spine An abnormality of the thoracic vertebral column.
Abnormality Of The Thorax Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Abnormality Of The Thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
Abnormality Of The Tibial Metaphysis
Abnormality Of The Tonsils An abnormality of the tonsils.
Abnormality Of The Urethra An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
Abnormality Of The Urinary System An abnormality of the urinary system.
Abnormality Of The Vertebral Endplates Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.
Abnormality Of The Vertebral Spinous Processes
Abnormality Of The Vestibulocochlear Nerve Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.
Abnormality Of The Voice Any abnormality of the voice.
Abnormality Of The Wrist Abnormality of the wrist, the structure connecting the hand and the forearm.
Abnormality Of Tibia Morphology
Abnormality Of Ulnar Metaphysis
Abnormality Of Upper Lip An abnormality of the upper lip.
Abnormality Of Upper Lip Vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.
Abnormality Of Vertebral Epiphysis Morphology An anomaly of one or more epiphyses of one or more vertebrae.
Abnormality Of Vision Abnormality of eyesight (visual perception).
Abnormally Low-Pitched Voice An abnormally low-pitched voice.
Abnormally Ossified Vertebrae
Abo Incompatibility
Abortion, Habitual
Abruzzo Erickson Syndrome
Abscess Cavity
Abscess Of Breast
Absence Epilepsy
Absence Of Alpha Granules
Absence Of Lutheran Antigen On Erythrocytes Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.
Absence Of Muscle
Absence Of Septum Pellucidum
Absence Of Tibia With Polydactyly
Absence Seizure Disorder
Absent Anterior Chamber Of Eye
Absent Antitragus
Absent Corpus Callosum Cataract Immunodeficiency
Absent Eyebrow Absence of the eyebrow.
Absent Finger
Absent Fourth Finger Distal Interphalangeal Crease Absence of the distal interphalangeal flexion creases of the fourth finger.
Absent Mastoid
Absent Nail Of Hallux
Absent Nasal Bridge
Absent Nasal Septal Cartilage Lack of the cartilage of the nasal septum.
Absent Ossification Of Calvaria
Absent Pigmentation Of The Ventral Chest Lack of skin pigmentation (coloring) of the anterior chest.
Absent Pituitary
Absent Radius Missing radius bone associated with congenital failure of development.
Absent Scrotum Congenital absence of the scrotum.
Absent Styloid Process Of Ulna
Absent Toe Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Absent Tragus
Absssi
Abulia
Abuse Of Synthetic Cathinone
Acalculous Cholecystitis
Acampomelic Campomelic Dysplasia
Acanthamoeba Infection
Acanthamoeba Keratitis
Acanthocheilonemiasis
Acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Acanthocytosis With Hypobetalipoproteinemia
Acantholytic Dyskeratotic Epidermal Nevus
Acantholytic Squamous Cell Carcinoma
Acanthoma
Acanthoma, Clear Cell
Acanthomatous Ameloblastoma
Acanthosis Nigricans OMIM mapping confirmed by DO. [SN].
Acanthosis Palmaris
Acatalasemia Japanese Type
Acatalasemia Swiss Type
Acatalasia
Accelerated Idioventricular Rhythm
Accessory Carpal Bones The presence of more than the normal number of carpal bones.
Accessory Hepatic Duct
Accessory Kidney
Accessory Nipple
Accessory Oral Frenulum Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
Accessory Rib
Accessory Scrotum
Accessory Skeletal Muscle
Accessory Spleen An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Accommodation Phosphene Disorder
Acephalic Spermatozoa
Acetyl-Coa: Carboxylase Deficiency
Achalasia An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
Acheiropodia
Achondrogenesis An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
Achondroplasia An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplastic Dwarfism
Achromatopsia A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Acid Phosphatase Deficiency
Acid-Labile Subunit Deficiency
Acinar Cell Tumor
Acinetobacter Bacteraemia
Acinic Cell Carcinoma Of Salivary Gland
Acne A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.
Acne Inversa
Acoustic Neuroma
Acquired Angioedema Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.
Acquired Anomaly Of Tongue
Acquired Antithrombin Iii Deficiency
Acquired Aplastic Anemia
Acquired Atrophy Of Ovary
Acquired C1 Inhibitor Deficiency
Acquired Camptodactyly
Acquired Cjd
Acquired Clubfoot
Acquired Communicating Hydrocephalus
Acquired Cubitus Valgus
Acquired Cystic Disease Associated Renal Cell Carcinoma
Acquired Cystic Kidney Disease
Acquired Deformity Of Finger
Acquired Factor X Deficiency Disease
Acquired Factor Xiii Deficiency
Acquired Fanconi Syndrome
Acquired Flat Foot
Acquired Generalized Lipodystrophy
Acquired Haemophilia
Acquired Hallux Valgus
Acquired Hypofibrinogenemia
Acquired Hypogammaglobulinemia
Acquired Hypogonadotropic Hypogonadism
Acquired Hypoparathyroidism
Acquired Hypophosphatemia
Acquired Hypothyroidism
Acquired Immunodeficiency
Acquired Immunodeficiency Syndrome A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
Acquired Kyphoscoliosis
Acquired Long Qt Syndrome A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome.
Acquired Methemoglobinemia
Acquired Nephrogenic Diabetes Insipidus
Acquired Neuromyotonia
Acquired Obstructive Azoospermia
Acquired Partial Lipodystrophy
Acquired Pectus Carinatum
Acquired Phimosis
Acquired Platelet Disorder
Acquired Polyneuropathy
Acquired Porencephaly
Acquired Prion Disease
Acquired Protein S Deficiency
Acquired Renal Cystic Disease
Acquired Sensorineural Hearing Loss
Acquired Thrombocytopenia
Acquired Thrombophilia
Acquired Torsion Dystonia
Acquired Trigger Finger
Acquired Von Willebrand'S Disease
Acral Dystrophic Epidermolysis Bullosa
Acral Lentiginous Malignant Melanoma
Acral Self-Healing Collodion Baby
Acrania
Acro-Osteolysis
Acroangiodermatitis Of Skin
Acrobrachycephaly An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.
Acrocallosal Syndrome A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
Acrocallosal Syndrome, Schinzel Type
Acrocapitofemoral Dysplasia OMIM mapping confirmed by DO. [SN].
Acrocephalopolydactylous Dysplasia
Acrocephalopolysyndactyly
Acrocephalopolysyndactyly Type 2
Acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly.
Acrocephaly
Acrodermatitis
Acrodyostosis
Acrodysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
Acrofacial Dysostosis
Acrofacial Dysostosis, Cincinnati Type
Acrogeria
Acrokeratoelastoidosis Of Costa
Acrokeratosis Overgrowth of the stratum corneum characterized by nodular configurations of the backs of the toes and fingers.
Acrokeratosis Verruciformis Of Hopf
Acromegaloid Facial Appearance Syndrome
Acromegaly A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
Acromelia
Acromelic Frontonasal Dysostosis
Acromelic Frontonasal Dysplasia
Acromesomelic Dysplasia Hunter-Thompson Type
Acromesomelic Dysplasia, Demirhan Type
Acromesomelic Dysplasia, Maroteaux Type An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb.
Acromicria
Acromicric Dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Acroosteolysis Dominant Type
Acroosteolysis Of Distal Phalanges (Feet)
Acroparesthesia
Acropectorovertebral Dysplasia, F-Form
Acroscyphodysplasia
Acrospiroma
Acth Deficiency, Isolated
Acth Syndrome, Ectopic
Acth-Dependent Cushing'S Syndrome
Acth-Independent Macronodular Adrenal Hyperplasia ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).
Acth-Independent Macronodular Adrenal Hyperplasia 2
Acth-Secreting Pituitary Adenoma A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
Actin-Accumulation Myopathy
Actinic Cheilitis
Actinic Keratosis
Actinic Porokeratosis
Actinic Prurigo
Actinobacillus Infections
Action Myoclonus-Renal Failure Syndrome
Activated B-Cell Type Diffuse Large B-Cell Lymphoma
Activated Pi3 Kinase Delta Syndrome
Activated Pi3K-Delta Syndrome
Activated Protein C Resistance
Activation Of Latent Virus
Active Suicidal Ideation
Active Tuberculosis
Actn3 Deficiency
Acute Agranulocytosis
Acute Alcohol Withdrawal
Acute Alcoholic Intoxication
Acute Alcoholic Liver Disease
Acute Alcoholism
Acute Amebiasis
Acute Anaemia
Acute Anaphylaxis
Acute And Chronic Colitis
Acute And Subacute Liver Necrosis (Disorder)
Acute Angle-Closure Glaucoma
Acute Anterior Uveitis disease cluster belonging to disease group immune
Acute Anterior Wall Myocardial Infarction
Acute Aortic Dissection
Acute Apical Abscess
Acute Appendicitis Nos (Disorder)
Acute Arthritis
Acute Asthma
Acute Bacterial Peritonitis
Acute Bacterial Prostatitis
Acute Bacterial Skin And Skin Structure Infection
Acute Basophilic Leukemia
Acute Bilineal Leukemia
Acute Biphenotypic Leukemia
Acute Bronchiolitis
Acute Bronchitis
Acute Bronchitis And Bronchiolitis
Acute Bronchitis Due To Respiratory Syncytial Virus
Acute Cardiac Pulmonary Edema
Acute Central Serous Chorioretinopathy
Acute Cerebellar Ataxia
Acute Cerebellar Syndrome
Acute Cerebral Ischemia
Acute Cerebrovascular Accidents
Acute Cerebrovascular Disease
Acute Chagas' Disease
Acute Chest Syndrome A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
Acute Cholangitis
Acute Cholecystitis
Acute Cholecystitis Without Calculus
Acute Coagulopathy
Acute Coccidioidomycosis
Acute Colitis An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).
Acute Confusional Migraine
Acute Confusional Senile Dementia
Acute Congestive Heart Failure
Acute Conjunctivitis
Acute Contagious Conjunctivitis
Acute Coronary Insufficiency
Acute Coronary Syndrome A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.
Acute Cystitis A cystitis characterized by a sudden onset or severe symptoms.
Acute Deep Venous Thrombosis
Acute Demyelinating Polyneuropathy Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.
Acute Depression
Acute Dermatitis
Acute Diarrhea A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
Acute Disseminated Encephalitis
Acute Disseminated Intravascular Coagulation
Acute Diverticulitis
Acute Eczema
Acute Encephalopathy
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Acute Endocarditis
Acute Enterocolitis
Acute Erythroblastic Leukemia
Acute Erythroleukemia
Acute Esophagitis
Acute Exacerbation Of Chronic Obstructive Bronchitis
Acute Fatty Liver Of Pregnancy
Acute Febrile Encephalopathy
Acute Febrile Illness
Acute Flaccid Myelitis
Acute Focal Bacterial Nephritis
Acute Follicular Conjunctivitis
Acute Fulminant Hepatitis
Acute Gastroenteritis
Acute Gastrointestinal Hemorrhage
Acute Generalized Exanthematous Pustulosis
Acute Glaucoma
Acute Glomerulonephritis
Acute Gvh Disease
Acute Haemolytic Anaemia
Acute Heart Failure
Acute Hematogenous Osteomyelitis
Acute Hemolytic Transfusion Reaction
Acute Hemorrhagic Ulcer Of Rectum
Acute Hepatic Steatosis An acute form of hepatic steatosis.
Acute Hepatitis
Acute Hepatitis C
Acute Hiv Infection
Acute Hiv Syndrome
Acute Hypercapnic Respiratory Failure
Acute Hypoxemic Respiratory Failure
Acute Infantile Spinal Muscular Atrophy
Acute Infectious Pneumonia
Acute Infective Polyneuritis
Acute Inferior Myocardial Infarction
Acute Inflammatory Demyelinating Polyneuropathy
Acute Intermittent Porphyria
Acute Interstitial Nephritis
Acute Interstitial Pneumonia A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
Acute Intestinal Obstruction
Acute Intravascular Hemolysis
Acute Ischemic Heart Disease
Acute Kidney Injury Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Acute Kidney Insufficiency
Acute Kidney Tubular Necrosis
Acute Left-Sided Heart Failure
Acute Leukemia A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia.
Acute Leukemia In Remission
Acute Leukemia Of Ambiguous Lineage
Acute Lower Respiratory Tract Infection
Acute Lung Injury Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis.
Acute Lung Injury/Acute Respiratory Distress Syndrome (Ards)
Acute Lyme Disease
Acute Lymphoblastic Leukemia When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.|A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.|A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia.
Acute Lymphocytic Leukemia A lymphoblastic leukemia that is characterized by over production of lymphoblasts.
Acute Malaria
Acute Massive Pulmonary Embolism
Acute Mastitis
Acute Mastoiditis
Acute Maxillary Sinusitis A maxillary sinusitis which lasts for less than 4 weeks.
Acute Megakaryocytic Leukemias
Acute Mesenteric Arterial Embolus
Acute Mesenteric Arterial Thrombosis
Acute Migraine
Acute Miliary Tuberculosis
Acute Monoblastic Leukemia
Acute Monocytic Leukemia OMIM mapping confirmed by DO. [SN].
Acute Monocytic/Monoblastic Leukemia
Acute Motor Axonal Neuropathy
Acute Motor Sensory Axonal Neuropathy
Acute Mountain Sickness disease cluster belonging to disease group other
Acute Mucositis
Acute Myeloblastic Leukemia With T(8;21)
Acute Myeloid Leukaemia
Acute Myeloid Leukemia Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome
Acute Myelomonoblastic Leukemia
Acute Myelomonocytic Leukemia A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin.
Acute Myelomonocytic Leukemia With Abnormal Eosinophils
Acute Myocardial Infarction
Acute Myocardial Ischemia
Acute Myocarditis
Acute Necrotizing Encephalopathy
Acute Necrotizing Encephalopathy Of Childhood
Acute Nephropathy
Acute Obstructive Cholangitis
Acute On Chronic Hepatitis B
Acute On Chronic Pancreatitis
Acute Osteomyelitis
Acute Otitis Media
Acute Pancreatitis
Acute Panmyelosis With Myelofibrosis
Acute Pericarditis
Acute Periodontitis
Acute Peritonitis
Acute Pharyngitis
Acute Pneumonia
Acute Post-Streptococcal Glomerulonephritis
Acute Post-Traumatic Headache
Acute Posterior Multifocal Placoid Pigment Epitheliopathy
Acute Posthaemorrhagic Anaemia
Acute Promyelocytic Leukaemia Differentiation Syndrome
Acute Promyelocytic Leukemia, In Remission
Acute Psychosis
Acute Psychotic Episode
Acute Pulmonary Congestion
Acute Pulmonary Embolism
Acute Pulmonary Thromboembolism
Acute Pyelonephritis
Acute Q Fever
Acute Radiation Enteritis
Acute Radiation Toxicity
Acute Recurrent Pancreatitis
Acute Renal Failure Due To Ischemia
Acute Respiratory Distress
Acute Respiratory Failure
Acute Respiratory Tract Infection An acute infection of the upper or lower respiratory tract.
Acute Rheumatic Heart Disease
Acute Rhinosinusitis
Acute Schizophrenia
Acute Sciatica
Acute Severe Refractory Exacerbation Of Asthma
Acute St Segment Elevation Myocardial Infarction (Disorder)
Acute Suppurative Appendicitis
Acute Thymic Involution
Acute Tonsillitis
Acute Toxic Hepatitis
Acute Transient Psychotic Disorder
Acute Tuberculosis
Acute Tubulointerstitial Nephritis
Acute Type A Viral Hepatitis
Acute Type B Viral Hepatitis
Acute Ulcer
Acute Ulcerative Colitis
Acute Undifferentiated Leukemia
Acute Upper Respiratory Infection
Acute Urinary Tract Infection
Acute Urticaria
Acute Uveitis
Acute Vascular Graft Rejection
Acute Vascular Insufficiency Of Intestine (Disorder)
Acute Viral Bronchiolitis
Acute Viral Hepatitis
Acute-On-Chronic Liver Failure
Acute-On-Chronic Respiratory Failure
Acyanotic Congenital Heart Disease
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of
Adactyly The absence of all phalanges of all the digits of a limb and the associated soft tissues.
Adamantinoma A bone cancer that is located_in almost exclusively in the long bones.
Adamantinous Craniopharyngioma
Adams Oliver Syndrome
Adams-Oliver Syndrome A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
Adams-Oliver Syndrome 1
Addicted To Heroin
Addison Disease
Addison'S Disease Due To Autoimmunity
Addisonian Crisis
Adenine Phosphoribosyltransferase Deficiency Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Adenoameloblastoma
Adenocarcinoid Tumor
Adenocarcinoma A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization.
Adenocarcinoma, Colonic, Somatic
Adenofibroma A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
Adenoid Cystic Carcinoma Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)|A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.
Adenoid Cystic Carcinoma Of Lung
Adenolymphoma
Adenoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.
Adenoma, Cortisol-Producing
Adenomatoid Tumor
Adenomatous Goiter
Adenomatous Polyp Of Colon
Adenomatous Polyposis Coli
Adenomatous Polyposis Coli With Congenital Cholesteatoma
Adenomatous Polyps
Adenomyoepithelioma
Adenomyoma A carcinosarcoma that has_material_basis_in gland and muscle components.
Adenosarcoma A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
Adenosarcoma Of The Uterus
Adenosine Deaminase 2 Deficiency
Adenosine Deaminase Deficiency A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.
Adenosine Monophosphate Deaminase Deficiency
Adenosine Triphosphate, Elevated, Of Erythrocytes
Adenosis
Adenosis Of Breast
Adenosquamous Carcinoma A squamous cell carcinoma that contains squamous cells and gland-like cells.
Adenosquamous Cell Lung Cancer
Adenosylcobalamin Synthesis Defect
Adenotonsillitis
Adenoviral Hepatitis
Adenoviral Keratitis
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Adenylosuccinate Lyase Deficiency Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.
Adh-Resistant Diabetes Insipidus
Adhesion Of Intestine
Adhesion Of Lung
Adhesion Of Pleura
Adhesions Of Iris
Adhesive Capsulitis
Adhf
Adiponectin Deficiency
Adiposis Dolorosa OMIM mapping confirmed by DO. [SN].
Adipsic Diabetes Insipidus
Adjacent Segment Disease
Adjustment Sleep Disorder
Adnexal Lesion
Adnexal Mass
Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder
Adolescent - Emotional Problem
Adolescent Antisocial Behaviour
Adolescent Gynecomastia
Adolescent Idiopathic Scoliosis
Adrenal Calcification Calcification within the adrenal glands.
Adrenal Cancer
Adrenal Cortical Adenoma An adrenal adenoma that is a benign tumor of the adrenal cortex.
Adrenal Cortical Hypofunction
Adrenal Cushing'S Syndrome
Adrenal Gland Hyperplasia Ii
Adrenal Gland Pheochromocytoma A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.
Adrenal Hyperplasia Enlargement of the adrenal gland.
Adrenal Incidentaloma
Adrenal Insufficiency, Congenital
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal Insufficiency, Nr5A1-Related
Adrenal Mass
Adrenal Neuroblastoma An adrenal gland cancer that derives_from immature neuroblastic cells.
Adrenal Nodule
Adrenal Rest Tumor
Adrenalitis
Adrenocortical Carcinoma An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Adrenocortical Carcinoma, Hereditary
Adrenocortical Carcinoma, Pediatric
Adrenocortical Hyperplasia
Adrenocortical Hypoplasia
Adrenocortical Tumor, Somatic
Adrenocorticotropic Hormone (Acth) Deficiency (Disorder)
Adrenocorticotropin Deficient Adrenal Insufficiency
Adrenogenital Disorder
Adrenogenital Syndrome Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
Adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Adrenoleukodystrophy, Neonatal
Adrenomyeloneuropathy
Adult Acquired Toxoplasmosis
Adult Acute Basophilic Leukemia
Adult Acute Eosinophilic Leukemia
Adult Acute Erythroid Leukemia
Adult Acute Leukemia In Remission
Adult Acute Lymphocytic Leukemia
Adult Acute Megakaryoblastic Leukemia
Adult Acute Monoblastic Leukemia
Adult Acute Monocytic Leukemia
Adult Acute Myeloblastic Leukemia
Adult Acute Myeloid Leukemia In Remission
Adult Acute Myeloid Leukemia With Inv(16)(P13;Q22)
Adult Acute Myeloid Leukemia Without Maturation
Adult Acute Myelomonocytic Leukemia
Adult Acute Promyelocytic Leukemia With Pml-Rara
Adult Alveolar Soft Part Sarcoma
Adult Anaplastic Astrocytoma
Adult Anaplastic Ependymoma
Adult Anaplastic Large Cell Lymphoma
Adult Anaplastic Oligodendroglioma
Adult Angiosarcoma
Adult Astrocytic Tumor
Adult Atopic Dermatitis disease cluster belonging to disease group other
Adult Attention Deficit Hyperactivity Disorder
Adult Atypical Meningioma
Adult B Acute Lymphoblastic Leukemia
Adult B Lymphoblastic Lymphoma
Adult Brain Glioblastoma
Adult Brain Neoplasm
Adult Burkitt Leukemia
Adult Burkitt Lymphoma
Adult Cholangiocarcinoma
Adult Chronic Myelogenous Leukemia
Adult Classical Hodgkin Lymphoma
Adult Clear Cell Sarcoma Of Soft Parts
Adult Craniopharyngioma
Adult Desmoplastic Small Round Cell Tumor
Adult Diffuse Astrocytoma
Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large Cell Lymphoma
Adult Diffuse Small Cleaved Cell Lymphoma
Adult Ependymoma
Adult Epithelioid Hemangioendothelioma
Adult Epithelioid Sarcoma
Adult Erythroleukemia
Adult Extraskeletal Myxoid Chondrosarcoma
Adult Extraskeletal Osteosarcoma
Adult Fanconi Syndrome
Adult Fibrosarcoma
Adult Form Of Celiac Disease
Adult Germ Cell Tumor
Adult Giant Cell Glioblastoma
Adult Glioblastoma
Adult Gliosarcoma
Adult Glycogen Storage Disease Type Ii
Adult Grade I Meningioma
Adult Grade Ii Meningioma
Adult Grade Iii Meningioma
Adult Growth Hormone Deficiency
Adult Hepatocellular Carcinoma
Adult Hodgkin Lymphoma
Adult Hypophosphatasia (Disorder)
Adult I Blood Group Phenotype
Adult Immunoblastic Lymphoma
Adult Intracranial Germ Cell Tumor
Adult Junctional Epidermolysis Bullosa (Disorder)
Adult Kidney Wilms Tumor
Adult Langerhans Cell Histiocytosis
Adult Leiomyosarcoma
Adult Liposarcoma
Adult Liver Carcinoma
Adult Lymphoblastic Lymphoma
Adult Lymphocyte-Rich Classical Hodgkin Lymphoma
Adult Lymphoma
Adult Malignant Peripheral Nerve Sheath Tumor
Adult Medulloblastoma
Adult Meningioma
Adult Mixed Glioma
Adult Myelodysplastic Syndrome
Adult Myxedema
Adult Myxopapillary Ependymoma
Adult Nasal Type Extranodal Nk/T-Cell Lymphoma
Adult Neuroaxonal Dystrophy
Adult Neuronal Ceroid Lipofuscinosis
Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma
Adult Nodular Sclerosis Classical Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
Adult Oligodendroglial Tumor
Adult Oligodendroglioma
Adult Onset Asthma
Adult Onset Autosomal Dominant Leukodystrophy
Adult Onset Sensorineural Hearing Impairment The presence of sensorineural deafness with late onset.
Adult Papillary Meningioma
Adult Pelizaeus-Merzbacher Disease
Adult Penile Carcinoma
Adult Pilocytic Astrocytoma
Adult Pineoblastoma
Adult Pineocytoma
Adult Polyglucosan Body Neuropathy
Adult Pre-B Acute Lymphoblastic Leukemia
Adult Primary Cutaneous Anaplastic Large Cell Lymphoma
Adult Pure Erythroid Leukemia
Adult Rhabdomyoma
Adult Rhabdomyosarcoma
Adult Rickets
Adult Sandhoff Disease
Adult Separation Anxiety Disorder
Adult Soft Tissue Sarcoma
Adult Spinal Cord Ependymoma
Adult Subependymal Giant Cell Astrocytoma
Adult Subependymoma
Adult Syndrome An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
Adult Synovial Sarcoma
Adult Systemic Anaplastic Large Cell Lymphoma
Adult T Acute Lymphoblastic Leukemia
Adult T Lymphoblastic Lymphoma
Adult T-Cell Lymphoma/Leukaemia Recurrent
Adult T-Cell Lymphoma/Leukaemia Refractory
Adult T-Cell Lymphoma/Leukemia
Adult Teratoma
Adult Type Dermatomyositis
Adult Type Granulosa Cell Tumor
Adult Type Ovarian Granulosa Cell Tumor
Adult Type Polycystic Kidney Disease Type 1
Adult Undifferentiated Pleomorphic Sarcoma
Adult Xanthogranuloma
Adult Yolk Sac Tumor
Adult-Onset Citrullinemia Type 2
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation
Adult-Onset Dystonias
Adult-Onset Growth Hormone Deficiency
Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Torsion Dystonias
Adult-Onset Immunodeficiency
Adult-Onset Night Blindness Inability to see well at night or in poor light with onset in adulthood.
Adult-Onset Obesity
Adult-Onset Still Disease
Adult-Onset Vitelliform Macular Dystrophy
Advanced Bile Duct Carcinoma
Advanced Breast Cancer
Advanced Carcinoma
Advanced Cervical Carcinoma
Advanced Chronic Liver Disease
Advanced Cirrhosis
Advanced Cutaneous Melanoma Of The Extremity
Advanced Gastric Neuroendocrine Carcinoma
Advanced Head And Neck Carcinoma
Advanced Head And Neck Squamous Cell Carcinoma
Advanced Hypopharyngeal Squamous Cell Carcinoma
Advanced Laryngeal Squamous Cell Carcinoma
Advanced Lung Cancer
Advanced Lung Carcinoma
Advanced Lung Non-Squamous Non-Small Cell Carcinoma
Advanced Lymphoma
Advanced Malignant Solid Neoplasm
Advanced Melanoma
Advanced Oral Cavity Squamous Cell Carcinoma
Advanced Prostate Adenocarcinoma
Advanced Prostate Carcinoma
Advanced Renal Cell Carcinoma
Advanced Sarcoma
Advanced Sleep Phase Syndrome A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
Advanced Sleep-Phase Syndrome, Familial
Advanced Squamous Cell Carcinoma Of The Oropharynx
Advanced Synovial Sarcoma
Advanced Urothelial Carcinoma
Advanced Uveal Melanoma
Adverse Effects, Not Elsewhere Classified
Adynamic Bone Disease
Aeromonas Caviae Infection
Aeromonas Hydrophila Infection
Afebrile Seizure
Afibrinogenemia
African Burkitt'S Lymphoma
African Hemochromatosis
African Swine Fever
African Trypanosomiasis
After-Cataract
Agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins.
Agammaglobulinemia, Non-Bruton Type
Aganglionosis, Colonic
Aganglionosis, Rectosigmoid Colon
Age Related Macular Degeneration A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
Age-Associated Memory Impairment disease cluster belonging to disease group aging
Age-Related Amyloidosis
Age-Related Cataract
Age-Related Cognitive Decline
Age-Related Cortical Cataract
Age-Related Macular Degeneration Type 11
Age-Related Sarcopenia
Agenesis
Agep
Aggressive Adult Non-Hodgkin Lymphoma
Aggressive Angiomyxoma
Aggressive Natural Killer-Cell Leukemia
Aggressive Non-Hodgkin Lymphoma
Aggressive Outburst
Aggressive Papillary Tumor
Aggressive Periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
Aggressive Periodontitis, Generalized
Aggressive Systemic Mastocytosis
Agnosia A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
Agonadism
Agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
Agranulocytosis
Agraphesthesia
Agraphia
Agyria
Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome
Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Aicardi'S Syndrome
Aicardi-Goutieres Syndrome An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
Aicardi-Goutieres Syndrome 2
Aids (Disease)
Air Cyst
Airway Disease
Airway Disease Restrictive
Akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Akinetic Mutism A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
Akinetic Petit Mal
Akinetic Rigid Syndrome
Akinetic-Rigid Variant Of Huntington Disease
Al Awadi Syndrome
Al Kaissi Syndrome
Al-Gazali Syndrome
Al-Raqad Syndrome
Alacrima Absence of tear secretion.
Alacrima, Achalasia, And Mental Retardation Syndrome
Alacrima, Congenital, Autosomal Recessive
Alagille Syndrome A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Alazami-Yuan Syndrome
Albers-Schonberg Disease, Autosomal Recessive
Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Albinism, Ocular
Albinism, Oculocutaneous
Albinism, Tyrosinase-Negative
Albinism, Tyrosinase-Positive
Albinoidism, Oculocutaneous, Autosomal Dominant
Albright'S Hereditary Osteodystrophy An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
Alcohol Abuse A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
Alcohol Abuse Or Dependence
Alcohol Dependence With Withdrawal, Unspecified
Alcohol Myopathy
Alcohol Or Other Drugs Use
Alcohol Related Birth Defect
Alcohol Related Neurodevelopmental Disorder
Alcohol Toxicity
Alcohol Use Disorder
Alcohol Withdrawal Delirium
Alcohol Withdrawal Seizures
Alcohol Withdrawal Syndrome
Alcohol-Induced Chronic Pancreatitis
Alcohol-Induced Disorders, Nervous System
Alcohol-Related Liver Disease
Alcoholic Brain Damage
Alcoholic Gastritis
Alcoholic Intoxication
Alcoholic Intoxication, Chronic
Alcoholic Liver Damage
Alcoholic Neuropathy
Alcoholic Steatohepatitis
Aldosterone Synthase Deficiency
Aldosterone-Producing Adrenal Adenoma, Somatic
Aldosterone-Producing Adrenal Cortex Adenoma
Aleutian Mink Disease A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia.
Alexander Disease A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
Alexia
Algophobia
Alk Positive Large B-Cell Lymphoma
Alkalemia
Alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Alkuraya-Kucinskas Syndrome
Allan-Herndon-Dudley Syndrome (Ahds)
Allanson Pantzar Mcleod Syndrome
Allergic Asthma An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.
Allergic Bronchitis
Allergic Bronchopulmonary Mycosis
Allergic Conjunctivitis A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
Allergic Diarrhea
Allergic Disorder
Allergic Disorder Of Respiratory System
Allergic Enteritis
Allergic Fungal Sinusitis
Allergic Keratoconjunctivitis
Allergic Rhinitis (Disorder)
Allergic Rhinitis With Asthma
Allergic Rhinoconjunctivitis
Allergic Sensitization
Allergic Sinusitis
Allergy To Chlorpromazine
Allergy To Grass Pollen
Allergy To Metal
Allergy To Sting
Allergy To Vaccine
Allogenic Disease
Allograft Thrombosis
Alloimmune Neonatal Neutropenia
Alloimmune Thrombocytopenia
Alloimmunisation
Alloxan Diabetes
Alobar Holoprosencephaly
Aloof
Alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
Alopecia Areata 2
Alopecia Congenita
Alpers Syndrome (Disorder)
Alpha 1-Antitrypsin Deficiency A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
Alpha Ketoadipic Aciduria
Alpha Thalassemia Intermedia
Alpha Thalassemia Minor
Alpha Trait Thalassemia
Alpha, Alpha-Trehalase Deficiency
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Alpha-2-Antiplasmin Deficiency
Alpha-2-Macroglobulin Deficiency
Alpha-2-Plasmin Inhibitor Deficiency
Alpha-Aminoadipic Semialdehyde Deficiency Disease
Alpha-B Crystallinopathy
Alpha-Dystroglycanopathies
Alpha-Fetoprotein Deficiency
Alpha-Ketoglutarate Dehydrogenase Deficiency
Alpha-L-Iduronidase Deficiency
Alpha-Mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
Alpha-Methylacyl-Coa Racemase Deficiency
Alpha-Sarcoglycanopathies
Alpha-Thalassemia
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia, Hmong Type
Alpha-Thalassemia-2, Nondeletional
Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity
Alphaviral Infection
Alpha^+^ Thalassemia
Alpha^+^ Thalassemia, Deletion Type
Alpha^0^ Thalassemia
Alport Syndrome A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Recessive
Alport Syndrome, Dominant Type
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis
Alport Syndrome, Recessive Type
Alport Syndrome, X-Linked
Alstrom Syndrome An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
Alternating Esotropia
Alternating Exotropia
Alternating Hemiplegia Of Childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
Alternating Hemiplegia Of Childhood 1
Alternating Hemiplegia Of Childhood 2
Altitude Hypoxia
Altman Type Iv Sacrococcygeal Teratoma
Aluminium Overload
Aluminum Intoxication
Alveolar Bone Loss
Alveolar Capillary Dysplasia
Alveolar Pyorrhea
Alveolar Rhabdomyosarcoma A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar
Alveolar Ridge Abnormality
Alveolar Soft Part Sarcoma A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
Alveolar Soft Part Sarcoma Metastatic
Alveolitis
Alveolitis, Fibrosing
Alzheimer Disease
Amaurosis
Ambiguous Genitalia A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Ambiguous Genitalia, Female Ambiguous genitalia in an individual with XX genetic gender.
Amebiasis A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
Amebic Colitis
Amegakaryocytic Thrombocytopenia Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
Amegakaryocytosis
Amelanotic Skin Melanoma
Amelia Congenital absence (aplasia) of one or more limbs.
Ameloblastic Carcinoma
Ameloblastic Fibroma
Ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
Amelogenesis Imperfecta A dental enamel hypoplasia characterized by abnormal enamel formation.
American Cutaneous Leishmaniasis
Ametropia
Amino Acid Metabolism, Inherited Disorders
Aminoacidemia
Aminoaciduria An increased concentration of an amino acid in the urine.
Aminoacylase 1 Deficiency
Aminoacylase 2 Deficiency
Amish Brittle Hair Brain Syndrome
Amish Infantile Epilepsy Syndrome
Aml M5B
Amnesia
Amniotic Bands
Amphetamine Abuse A substance abuse that involves the recurring use of amphetamines despite negative consequences.
Amphetamine Addiction
Amphetamine Or Related Acting Sympathomimetic Abuse
Amphetamine Withdrawal
Amputation Stumps
Amr Syndrome
Amygdalo-Hippocampal Epilepsy
Amylo-1,6-Glucosidase Deficiency
Amyloid Angiopathy
Amyloid Cardiomyopathy, Transthyretin-Related
Amyloid Neuropathy
Amyloid Of Cornea
Amyloid Of Vitreous
Amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
Amyopathic Dermatomyositis
Amyotrophic Lateral Sclerosis A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Amyotrophy, Hereditary Neuralgic
Amyotrophy, Monomelic
Anaemia, Postpartum
Anal Abscess
Anal And Rectal Conditions
Anal Canal Squamous Carcinoma
Anal Canal Squamous Cell Carcinoma An anal canal cancer that derives_from epithelial squamous cells.
Anal Cancer Metastatic
Anal Cancer Recurrent
Anal Carcinoma A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
Anal Fistula An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
Anal Infection
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed)
Anal Lsil
Anal Sphincter Hypertonia
Anal Squamous Cell Carcinoma An anal carcinoma that arises near the squamocolumnar junction.
Anal Warts
Analgesic Overuse Headache
Anaplasia
Anarthria Speech Disorder
Anastomosing Hemangioma
Anastomosis
Anatomic Breast Cancer
Anatomical Narrow Angle Glaucoma
Anauxetic Dysplasia OMIM mapping confirmed by DO. [SN].
Anauxetic Dysplasia 2
Ancylostomiasis A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
Andersen Syndrome
Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Androgen Independent Prostate Cancer
Androgen Insensitivity, Partial, With Breast Cancer
Androgen Receptor Deficiency
Androgen-Insensitivity Syndrome
Androgenetic Alopecia
Android Obesity
Anemia A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
Anemia Hemoglobin
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Anemia, Perinatal Hemolytic, Fatal Or Near-Fatal
Anemia, Sideroblastic
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anencephaly
Aneurysm Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Aneurysm, Intracranial Berry, 1 (Disorder)
Aneurysmal Disease
Angel Shaped Phalangoepiphyseal Dysplasia
Angelman Syndrome OMIM mapping confirmed by DO. [SN].
Angiectasis
Angina
Angioblastic Meningioma
Angiocentric Glioma
Angiodysplasia A vascular disease that is characterized as a small vascular malformation of the gut.
Angiodysplasia Of Colon
Angioectasia
Angioedema condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis
Angioendotheliomatosis
Angiofibroma
Angiofibroma, Somatic
Angiogenic Switch
Angioid Streaks OMIM mapping confirmed by DO. [SN].
Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic T-Cell Lymphoma Refractory
Angiokeratoma
Angiolipoma A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
Angiolymphoid Hyperplasia
Angioma
Angiomatosis
Angiomatosis, Bacillary
Angiomatous Meningioma
Angiomyofibroblastoma
Angiomyolipoma A cell type benign neoplasm that from perivascular epithelioid cells.
Angiomyolipoma Of Kidney
Angiomyoma
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiosarcoma Non-Metastatic
Angiosarcoma Of Liver
Angiosarcoma Of The Breast
Angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
Angiostrongylus Infections
Angle Closure Glaucoma
Angular Cheilitis
Anhaptoglobinemia
Anhedonia Inability to experience pleasure activities usually found enjoyable.
Anhidrosis OMIM mapping confirmed by DO. [SN].
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Anhidrosis, Isolated, With Normal Sweat Glands
Anhydramnios
Anhydrotic Ectodermal Dysplasias
Aniridia 3
Aniridia, Atypical
Anisakiasis A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.
Anisomastia
Anisometropia
Ankle Arthritis
Ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
Ankyloblepharon Filiforme Adnatum
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloglossia Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
Ankylosing Spondylitis A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
Ankylosing Spondylitis And Other Inflammatory Spondylopathies
Ankylosis Of Feet Small Joints
Ankylosis Of The Elbow Joint
Annular Erythema
Annular Pancreas A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Anodontia Of Permanent Dentition
Anomalous Pulmonary Artery
Anomalous Pulmonary Vein
Anomalous Splenoportal Venous System
Anomalous Vascular Distribution
Anomia
Anonychia Aplasia of the nail.
Anophthalmia And Pulmonary Hypoplasia
Anophthalmos
Anorectal Atresia
Anorexia A lack or loss of appetite for food (as a medical condition).
Anorgasmia
Anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
Anovulatory (Finding)
Anoxia absence or almost complete absence of oxygen from inspired gases, in blood or tissues
Anridia
Anterior Basal Encephalocele
Anterior Beaking Of Lower Thoracic Vertebrae Anterior tongue-like protrusions of the lower thoracic vertebral bodies.
Anterior Beaking Of Lumbar Vertebrae Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
Anterior Beaking Of Thoracic Vertebrae Anterior tongue-like protrusions of thoracic vertebral bodies.
Anterior Chamber Synechiae
Anterior Encephalocele
Anterior Horn Cell Disease
Anterior Hypopituitarism A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Anterior Ischemic Optic Neuropathy
Anterior Lenticonus A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.
Anterior Myocardial Infarction
Anterior Open Bite
Anterior Pituitary Dysgenesis Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.
Anterior Pituitary Hormone Deficiency
Anterior Polar Cataract 2
Anterior Segment Anomalies And Cataract
Anterior Segment Anomalies With Or Without Cataract
Anterior Segment Dysgenesis Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
Anterior Segment Mesenchymal Dysgenesis
Anterior Spinal Artery Syndrome
Anterior Subcapsular Cataract
Anterior Synechiae
Anterior Uveitis
Anterior Uveitis Idiopathic
Anterior Wedging Of L1 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).
Anterior Wedging Of T11
Anterior Wedging Of T12
Anteroseptal Infarction
Anteroseptal Myocardial Infarction
Anthracosilicosis
Anthracosis
Anthrax Disease A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
Anti-Basement Membrane Glomerulonephritis
Anti-D Isoimmunization Affecting Pregnancy
Anti-Glomerular Basement Membrane Disease
Anti-Mag Neuropathy
Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Anti-Neutrophil Cytoplasmic Antibody Positive Vasculitis
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Anti-Pit-1 Antibody Syndrome
Anti-Plasmin Deficiency, Congenital
Anti-Polysaccharide Antibody Deficiency
Antibiotic-Associated Diarrhea
Antibody Deficiency Due To Defect In Cd19
Antibody Deficiency Syndrome
Antiphospholipid Syndrome A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
Antisocial Personality Disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
Antisynthetase Syndrome
Antithrombin Iii Deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins.
Antley-Bixler Syndrome Phenotype
Antley-Bixler Syndrome With Disordered Steroidogenesis
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
Antral Carcinoma
Antral Gastritis
Antral Ulcer
Anus Prolapse
Anus, Imperforate
Anxiety Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
Anxiety Acute
Anxiety Generalized
Aorta To Right Ventricle Tunnel
Aortic Aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
Aortic Angiosarcoma
Aortic Coarctation
Aortic Dissection Rupture
Aortic Intramural Haematoma
Aortic Root Dilatation
Aortic Root Dilation
Aortic Rupture
Aortic Sclerosis
Aortic Stenosis Symptomatic
Aortic Tortuosity Abnormal tortuous (i.e., twisted) form of the aorta.
Aortic Valve Calcification Deposition of calcium salts in the aortic valve.
Aortic Valve Disease 1
Aortic Valve Disease 2
Aortic Valve Disorder
Aortic Valve Insufficiency An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
Aortic Valve Sclerosis disease cluster belonging to disease group cardiovascular
Aortic Valve Stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
Aortic Wall Hypertrophy
Aortitis
Aortocaval Fistula
Aortoiliac Occlusive Disease
Aortopulmonary Septal Defect
Apena
Apert Syndrome
Apert-Crouzon Disease
Aphakia absence of the crystalline lens of the eye
Aphalangy Of The Hands Absence of a digit or of one or more phalanges of a finger.
Aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
Aphthous Stomatitis A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
Apical Hypertrophic Cardiomyopathy
Apical Myocardial Infarction
Aplasia Cutis Congenita A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
Aplasia Cutis Congenita Of Scalp A developmental defect resulting in the congenital absence of skin on the scalp.
Aplasia Cutis Congenita Over Posterior Parietal Area
Aplasia Cutis Congenita Over The Scalp Vertex A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.
Aplasia Cutis Congenita With Epibulbar Dermoids
Aplasia Of Lacrimal And Salivary Glands Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
Aplasia Of Muscle
Aplasia Of The Bone
Aplasia Of The Epiglottis Absence of the epiglottis.
Aplasia Of The Parotid Gland Absence of the parotid gland.
Aplasia Of The Pectoralis Major Muscle Absence of the pectoralis major muscle.
Aplasia Of The Semicircular Canal Absence of the semicircular canal.
Aplasia/Hypoplasia Of The 5Th Finger A small/hypoplastic or absent/aplastic 5th finger.
Aplasia/Hypoplasia Of The Capital Femoral Epiphysis Absence or underdevelopment of the proximal epiphysis of the femur.
Aplasia/Hypoplasia Of The Earlobes Absence or underdevelopment of the ear lobes.
Aplasia/Hypoplasia Of The Extremities Absence (due to failure to form) or underdevelopment of the extremities.
Aplasia/Hypoplasia Of The Iris Absence or underdevelopment of the iris.
Aplasia/Hypoplasia Of The Thymus Absence or underdevelopment of the thymus.
Aplasia/Hypoplastia Of The Eccrine Sweat Glands Absence or developmental hypoplasia of the eccrine sweat glands.
Aplastic Anemia An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
Aplastic Anemia, Susceptibility To (Finding)
Aplastic Bone Marrow
Apocrine Adenoma
Apocrine Carcinoma
Apocrine Cystadenoma
Apocrine Metaplasia
Apolipoprotein C-Ii Deficiency (Disorder)
Apolipoprotein C-Iii Deficiency
Apoptotic Dna Damage
Apparent Mineralocorticoid Excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Appendicitis A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
Appendicolith
Apraxia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
Aprosencephaly
Aprt Deficiency, Japanese Type
Apudoma
Aqueductal Stenosis Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.
Aqueous Humor Disorders
Arachnodactyly Abnormally long and slender fingers (spider fingers).
Arachnoid Cysts
Arachnoid Web
Arachnoiditis
Arachnophobia
Arakawa Syndrome 2
Arcus Senilis OMIM mapping confirmed by DO. [SN].
Arcus Senilis, Bilateral
Arginine:Glycine Amidinotransferase Deficiency
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Aciduria An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Argyrophilic Grain Disease
Arhinencephaly
Arhinia, Choanal Atresia, And Microphthalmia
Aria-H
Arima Syndrome
Aristolochic Acid Nephropathy
Arnold Chiari Malformation
Aromatase Deficiency Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
Aromatase Excess Syndrome
Aromatic Amino Acid Decarboxylase Deficiency
Arrested Hydrocephalus
Arrhinia
Arrhythmogenic Right Ventricular Dysplasia
Arsenic Encephalopathy
Arsenic Induced Polyneuropathy
Arsenic Poisoning
Arsenic Poisoning, Inorganic
Arterial Aneurysm
Arterial Calcification Pathological deposition of calcium salts in one or more arteries.
Arterial Calcification Of Infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
Arterial Diseases, Common Carotid
Arterial Fibrosis
Arterial Insufficiency
Arterial Intimal Fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.
Arterial Leg Ulcer
Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly
Arterial Tortuosity Syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
Arteriolar Hyalinosis
Arteriolar Nephrosclerosis
Arteriolosclerosis
Arterionephrosclerosis
Arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
Arteriovascular Degeneration
Arteriovenous Fistula
Arteriovenous Graft
Arteriovenous Hemangioma
Arteriovenous Malformation Of Liver
Arteritic Anterior Ischemic Optic Neuropathy
Arthralgia Joint pain.
Arthritis Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints.
Arthritis Symptoms
Arthrofibrosis disease cluster belonging to disease group other
Arthrogryposis Persistent flexure or contracture of a joint. (Dorland, 27th ed)
Arthropathy A bone inflammation disease that is located_in joint.
Arthus Reaction
Articulation Disorders
Aryl Hydrocarbon Hydroxylase Inducibility
Arylsulfatase A Deficiency
Arylsulfatase A Pseudodeficiency
As If Personality
Asa Intolerant Asthma
Asbestos Pleurisy
Asbestos-Related Lung Carcinoma
Asbestos-Related Malignant Mesothelioma
Asbestosis A pneumoconiosis caused by inhalation and retention of asbestos fibers.
Ascariasis A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.
Ascending Aorta Dilatation
Ascending Aortic Rupture
Ascites Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen.
Ascorbic Acid Deficiency
Asd I
Asd Ii
Aseptic Meningitis
Aseptic Peritonitis
Asherman Syndrome
Asiderotic Anemia
Askin'S Tumor
Asparagine Synthetase Deficiency
Aspartylglucosamidase (Aga) Deficiency
Asperger Syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
Asperger Syndrome, X-Linked, Susceptibility To, 1 (Disorder)
Asperger Syndrome, X-Linked, Susceptibility To, 2 (Finding)
Aspergilloma
Aspergillosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
Aspergillosis, Susceptibility To
Asphyxia
Aspiration Pneumonia A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
Aspiration Pneumonitis A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
Aspirin Exacerbated Respiratory Disease
Asplenia Syndrome
Associated Pulmonary Arterial Hypertension
Asteroid Hyalosis
Asthenozoospermia loss or reduction of the mobility of the spermatozoa, frequently associated with infertility
Asthma A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
Asthma With Copd
Astigmatism Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed).
Astler-Coller B1 Rectal Carcinoma
Astroblastoma
Astrocytic Hamartoma
Astrocytoma A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
Astrocytoma, Low-Grade, Somatic
Asymmetric Crying Face Association
Asymmetric Diabetic Proximal Motor Neuropathy
Asymmetric Septal Hypertrophy Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
Asymmetrical Conjoined Twins
Asymptomatic Bacteriuria
Asymptomatic Carotid Artery Stenosis
Asymptomatic Human Immunodeficiency Virus Infection
Asymptomatic Hyperuricemia
Asymptomatic Hypoglycaemia
Asymptomatic Inflammatory Prostatitis
Asymptomatic Multiple Myeloma
Asymptomatic Periapical Periodontitis
Ataxia
Atelosteogenesis OMIM mapping confirmed by DO. [SN].
Athabaskan Brainstem Dysgenesis
Athabaskan Severe Combined Immunodeficiency
Atheroeruptive Xanthoma
Atherogenic Dyslipidaemia
Atherosclerosis A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
Atherothrombosis
Athetoid Cerebral Palsy
Athlete'S Heart
Atkin Syndrome
Atlantoaxial Instability Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
Atopic Cataract
Atopic Eczema/Dermatitis (Non-Specific)
Atopic Ige-Mediated Allergic Disorder
Atopic Keratoconjunctivitis
Atopic Rhinitis
Atp Synthase Deficiency
Atresia
Atrial Cardiomyopathy
Atrial Dilatation
Atrial Enlargement
Atrial Fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Atrial Fibrillation New Onset
Atrial Hypertrophy
Atrial Myxoma
Atrial Myxoma, Familial
Atrial Premature Complexes
Atrial Septal Aneurysm A bulging of the interatrial septum towards one side. IN adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.
Atrial Septal Defect
Atrial Standstill
Atrial Thrombosis formation or presence of a thrombus in the atria of the heart
Atrichia
Atrichia With Papular Lesions Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
Atrioventricular Block A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
Atrioventricular Canal Defect
Atrioventricular Reciprocating Tachycardia
Atrioventricular Septal Defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome
Atrophia Maculosa Varioliformis Cutis, Familial
Atrophic Acne Scar
Atrophic Iris
Atrophic Retina
Atrophic Vaginitis
Atrophic, Patchy Alopecia
Atrophoderma Maculatum
Atrophoderma Vermiculatum
Atrophy Of Corpus Callosum
Atrophy Of Kidney
Atrophy Of Liver
Atrophy Of Optic Disc
Atrophy Of Pancreas
Atrophy Of Prostate
Atrophy Of Seminal Vesicle
Atrophy Of Testis
Atrophy Of The Spinal Cord
Atrophy Of Tongue
Atrophy Of Tongue Papillae
Atrophy Of Vagina
Atrophy, Disuse
Atrophy, Muscular, Spinobulbar
Atrophy/Degeneration Affecting The Brainstem
Attention Deficit Disorder
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attenuated Chédiak-Higashi Syndrome
Atypical Absence Seizure
Atypical Adenoma
Atypical Adenomatous Lung Hyperplasia
Atypical Angina
Atypical Autism An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
Atypical Benign Partial Epilepsy
Atypical Burkitt'S Lymphoma
Atypical Carcinoid Tumor
Atypical Choroid Plexus Papilloma
Atypical Cystic Fibrosis
Atypical Depressive Disorder A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (comfort eating), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.
Atypical Ductal Breast Hyperplasia
Atypical Endometrial Hyperplasia
Atypical Endometriosis
Atypical Fibroxanthoma Of Skin
Atypical Follicular Adenoma
Atypical Hemolytic Uremic Syndrome
Atypical Hypotonia Cystinuria Syndrome
Atypical Inclusion-Body Disease
Atypical Juvenile Parkinsonism
Atypical Lipoma
Atypical Lobular Breast Hyperplasia
Atypical Lymphoproliferative Disorder
Atypical Medullary Carcinoma
Atypical Meningioma
Atypical Mycobacteriosis, Familial
Atypical Mycobacteriosis, Familial, X-Linked 1 (Disorder)
Atypical Mycobacteriosis, Familial, X-Linked 2
Atypical Neurofibroma
Atypical Or Prolonged Hepatitis
Atypical Parkinson Disease
Atypical Parkinsonism
Atypical Pneumonia
Atypical Polypoid Adenomyoma
Atypical Psychosis
Atypical Pulmonary Carcinoid Tumor
Atypical Scrapie
Atypical Small Acinar Proliferation Of The Prostate Gland
Atypical Spitz Nevus
Atypical Subacute Thyroiditis
Atypical Teratoid Rhabdoid Tumor A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
Atypical Werner Syndrome
Au-Kline Syndrome
Auditory And Visual Hallucinations
Auditory Neuropathy
Auditory Neuropathy And Optic Atrophy
Auditory Neuropathy Spectrum Disorder
Auditory Neuropathy, Autosomal Dominant, 1
Auditory Processing Disorder, Central
Aural Atresia, Congenital
Auriculo-Condylar Syndrome
Auriculocondylar Syndrome
Autism A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.
Autism, Severe
Autism, Susceptibility To
Autoimmune Adrenal Insufficiency
Autoimmune Anaemia
Autoimmune Arthritis
Autoimmune Cholangitis
Autoimmune Colitis
Autoimmune Connective Tissue Disorder
Autoimmune Crescentic Glomerulonephritis
Autoimmune Demyelinating Disease
Autoimmune Disease (Systemic) Nos
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmune Disease, Susceptibility To, 1
Autoimmune Disease, Susceptibility To, 6
Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea
Autoimmune Endocrine Disease
Autoimmune Enteropathy
Autoimmune Gastritis
Autoimmune Hemophilia
Autoimmune Hepatitis An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
Autoimmune Hypoparathyroidism
Autoimmune Hypophysitis
Autoimmune Inflammation Of Skeletal Muscle
Autoimmune Inner Ear Disease
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Autoimmune Limbic Encephalitis
Autoimmune Liver Disease
Autoimmune Lung Disease
Autoimmune Lymphoproliferative Syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune Myocarditis
Autoimmune Myopathy
Autoimmune Nephritis disease cluster belonging to disease group immune
Autoimmune Neuropathy
Autoimmune Neutropenia Autoimmune-induced neutropenia.
Autoimmune Pancreatitis
Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia
Autoimmune Polyglandular Syndrome disease cluster belonging to disease group immune
Autoimmune Primary Adrenal Insufficiency
Autoimmune Retinopathy
Autoimmune Sensorineural Hearing Loss
Autoimmune Skin Disease
Autoimmune Thrombocytopenia
Autoimmune Thrombotic Thrombocytopenic Purpura
Autoimmune Thyroid Disease disease cluster belonging to disease group immune
Autoimmune Thyroid Disease (Aitd)
Autoimmune Thyroid Disease, Susceptibility To, 3 (Finding)
Autoimmune Thyroid Disorder
Autoimmune Thyroiditis An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
Autoimmune Urticaria
Autoimmune Uveitis
Autoimmune Vasculitis
Autoinflammation
Autoinflammatory Disease
Autoinflammatory Disorder
Autoinflammatory Syndrome
Autoinflammatory Syndrome, Familial, Behcet-Like
Autologous Graft Versus Host Disease
Automimmune Polyendocrinopathy Syndrome
Autonomic Bladder Dysfunction Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.
Autonomic Dysreflexia
Autonomic Hyperreflexia Of Bladder
Autonomic Nervous System Imbalance
Autonomic Neuropathy
Autonomous Thyroid Function
Autosomal Agammaglobulinemia With Absent B-Cells
Autosomal Aneuploidy
Autosomal Dominant Beta2-Microglobulinic Amyloidosis
Autosomal Dominant Cerebellar Ataxia
Autosomal Dominant Charcot-Marie-Tooth Disease
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
Autosomal Dominant Contiguous Gene Syndrome
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder)
Autosomal Dominant Epidermolysis Bullosa Simplex
Autosomal Dominant Familial Dystonia
Autosomal Dominant Focal Segmental Glomerulosclerosis
Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hyperinsulinism
Autosomal Dominant Hypocalcemia
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder)
Autosomal Dominant Hypophosphatemic Rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
Autosomal Dominant Ichthyosis
Autosomal Dominant Ichthyosis Vulgaris
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease With Neuropathic Pain
Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Keratitis
Autosomal Dominant Late Onset Parkinson Disease
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1A
Autosomal Dominant Macrothrombocytopenia
Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
Autosomal Dominant Oculocutaneous Albinism
Autosomal Dominant Optic Atrophy Plus Syndrome
Autosomal Dominant Osteopetrosis
Autosomal Dominant Parkinsonism
Autosomal Dominant Retinitis Pigmentosa
Autosomal Dominant Spondylocostal Dysostosis
Autosomal Dominant Tubulointerstitial Kidney Disease
Autosomal Dominant Vitreoretinochoroidopathy
Autosomal Hemophilia A
Autosomal Recessie Cerebellar Ataxia
Autosomal Recessive Agammaglobulinemia
Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Cerebellar Ataxia Type 1
Autosomal Recessive Cerebral Atrophy
Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Congenital Methemoglobinemia Type I
Autosomal Recessive Cutis Laxa Type 2B
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Facio-Digito-Genital Syndrome
Autosomal Recessive Familial Dystonia
Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hyperimmunoglobulin M Syndrome
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
Autosomal Recessive Ichthyosis
Autosomal Recessive Limb Girdle Muscular Dystrophy
Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Autosomal Recessive Ocular Albinism
Autosomal Recessive Osteopetrosis
Autosomal Recessive Parkinsonism
Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Primary Microcephaly
Autosomal Recessive Retinitis Pigmentosa
Autosomal Recessive Scid
Autosomal Recessive Sideroblastic Anemia
Autosomal Recessive Spastic Paraplegia
Autosomal Systemic Lupus Erythematosus
Autotomy
Avascular Necrosis
Avascular Necrosis Of Femoral Head
Avascular Retina
Avellino Corneal Dystrophy
Avitaminosis
Awakening Epilepsy
Axenfeld Anomaly (Disorder)
Axenfeld Syndrome
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Axenfeld-Rieger Syndrome An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.
Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 3
Axial Hypermetropia
Axial Malrotation Of The Kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.
Axial Myopathy
Axial Myopia
Axial Spondyloarthritis
Axillary Vein Thrombosis
Axillary Web Syndrome
Axonal Neuropathy
Axonal Sensorimotor Neuropathy
Azoospermia A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
Azoospermia, Nonobstructive
Azotemia An increased concentration of nitrogen compounds in the blood.
B Acute Lymphoblastic Leukemia
B Lymphoblastic Leukemia Lymphoma
B Lymphoblastic Lymphoma
B Virus Infection
B-Cell Aplasia
B-Cell Expansion With Nfkb And T-Cell Anergy
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
B-Cell Lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells.
B-Cell Malignancy, Low-Grade
B-Cell Small Lymphocytic Lymphoma Recurrent
B-Immunoblastic Lymphoma (Kiel Classification)
Babesiosis A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
Bacillus Infection
Bacterascites
Bacteremia An infection that has as part bacteria located in the blood.
Bacterial Cholangitis
Bacterial Diarrhoea
Bacterial Endocarditis A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.
Bacterial Keratitis
Bacterial Otitis Media
Bacterial Peritonitis disease cluster belonging to disease group infection
Bacterial Prostatitis
Bacterial Sepsis
Bacterial Sepsis Of Newborn
Bacterial Sinusitis
Bacterial Vaginosis A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
Bacterial Ventriculitis
Bacteroides Fragilis Infection In Conditions Classified Elsewhere And Of Unspecified Site
Baff Polymorphism
Bagassosis An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
Bainbridge-Ropers Syndrome
Baker-Gordon Syndrome
Bakers' Asthma
Balkan Nephropathy An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.
Baller-Gerold Syndrome OMIM mapping confirmed by DO. [SN].
Ballismus
Balo'S Concentric Sclerosis
Bamforth Syndrome
Band Heterotopia
Band Heterotopia Of Brain
Bandemia
Bannayan-Riley-Ruvalcaba Syndrome OMIM mapping confirmed by DO. [SN].
Banti'S Syndrome
Bap1 Tumor Predisposition Syndrome
Bar-Biting
Baraitser Brett Piesowicz Syndrome
Baraitser-Winter Syndrome 2
Barakat Syndrome
Baratela-Scott Syndrome
Barber Say Syndrome
Barbiturate Withdrawal
Bardet-Biedl Syndrome An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Bare Lymphocyte Syndrome
Barrett Epithelium
Barrett Esophagus
Barrett Esophagus/Esophageal Adenocarcinoma
Barrett'S Adenocarcinoma
Bart'S Hemoglobinopathy
Bartter Disease
Bartter Syndrome Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Basal Cell Adenocarcinoma Of Salivary Gland
Basal Cell Cancer
Basal Cell Carcinoma A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471).
Basal Cell Neoplasm
Basal Cell Nevus
Basal Cell Nevus Syndrome
Basal Encephalocele
Basal Epidermolysis Bullosa Simplex
Basal Ganglia Calcification A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
Basal Ganglia Cysts
Basal Ganglia Disease, Biotin-Responsive
Basal Ganglion Degeneration
Basal Laminar Drusen (Disorder)
Basal-Like Breast Carcinoma
Basaloid Carcinoma
Basaloid Carcinoma Of The Anus
Basaloid Squamous Cell Carcinoma A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.
Basan Syndrome
Basaran Yilmaz Syndrome
Basel-Vanagaite-Smirin-Yosef Syndrome
Basilar Artery Occlusion
Basilar Artery Stenosis
Basilar Artery Thrombosis
Basilar Invagination
Basilar-Type Migraine
Basophilia
Basophilic Leukemia
Bat Ear
Bathing Suit Ichthyosis
Bb Leprosy
Bcg Infection
Bclc Stage A Hepatocellular Carcinoma
Beading Of Ribs
Becker Generalized Myotonia
Becker Muscular Dystrophy OMIM mapping confirmed by DO. [SN].
Becker Nevus Syndrome
Beckwith-Wiedemann Syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
Bedwetting
Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors
Behavioral Tic
Behavioral Variant Of Frontotemporal Dementia
Behavioural And Psychiatric Symptoms Of Dementia
Behcet Syndrome
Behcet'S Uveitis
Behr Syndrome
Bejel
Bell Palsy
Belpharocheilodontic Syndrome
Benign Adult Familial Myoclonic Epilepsy
Benign Chondrogenic Neoplasm
Benign Concentric Annular Macular Dystrophy
Benign Congenital Hypotonia
Benign Congenital Myopathy
Benign Cyst Of Ovary
Benign Cystic Nephroma
Benign Dermal Neoplasm
Benign Endometrial Hyperplasia
Benign Endometrial Stromal Neoplasm
Benign Epithelial Tumor Of Ovary
Benign Essential Blepharospasm Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will.
Benign Familial Convulsion
Benign Familial Mesial Temporal Lobe Epilepsy
Benign Focal Epilepsy, Childhood
Benign Genitourinary Tract Neoplasm A non-malignant neoplasm of the genitourinary system.
Benign Hematuria
Benign Hereditary Chorea
Benign Infantile Myoclonic Epilepsy
Benign Lymphocytic Infiltration Of Jessner
Benign Lymphoepithelial Lesion Of Lacrimal Gland
Benign Lymphoproliferative Disorder
Benign Mastocytoma
Benign Melanocytic Nevus
Benign Meningioma
Benign Mesenchymoma
Benign Mixed Epithelial And Stromal Tumor Of Kidney
Benign Multiple Sclerosis
Benign Neonatal Epilepsy
Benign Neonatal Epilepsy, Nonfamilial
Benign Neoplasm Of Adrenal Gland
Benign Neoplasm Of Bladder
Benign Neoplasm Of Brain, Unspecified
Benign Neoplasm Of Breast
Benign Neoplasm Of Colon
Benign Neoplasm Of Esophagus
Benign Neoplasm Of Kidney
Benign Neoplasm Of Large Intestine
Benign Neoplasm Of Liver
Benign Neoplasm Of Lung
Benign Neoplasm Of Meninges
Benign Neoplasm Of Pituitary Gland
Benign Neoplasm Of Prostate
Benign Neoplasm Of Stomach
Benign Neoplasm Of Sweat Gland
Benign Neoplasm Of Testis
Benign Neoplasm Of Thyroid Gland
Benign Neoplasm Of Uterus
Benign Neuroendocrine Tumor
Benign Occipital Epilepsy
Benign Ovarian Neoplasm
Benign Paroxysmal Positional Vertigo
Benign Pheochromocytoma
Benign Prostatic Hyperplasia A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.|A disease caused by hyperplastic process of non-transformed prostatic cells.|Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.
Benign Recurrent Intrahepatic Cholestasis
Benign Rolandic Epilepsy
Benign Samaritan Congenital Myopathy
Benign Schwannoma
Benign Struma Ovarii
Benign Supratentorial Neoplasms
Benign Teratoma
Benign Teratoma Of Ovary
Benign Thyroid Nodule
Benign Tumor Of Pancreas
Benign Tumor Of Salivary Gland
Benign Vascular Neoplasm
Bent Bone Dysplasia
Bent Bone Dysplasia Group
Bent Bone Dysplasia Syndrome
Beriberi
Bernard-Soulier Syndrome OMIM mapping confirmed by DO. [SN].
Berry Aneurysm
Berylliosis A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
Beryllium Disease disease cluster belonging to disease group other
Besnoitiasis
Best Vitelliform Macular Dystrophy, Multifocal (Disorder)
Bestrophinopathy OMIM mapping confirmed by DO. [SN].
Beta Haemolytic Streptococcal Infection
Beta Thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
Beta Thalassemia Intermedia
Beta Thalassemia Minor
Beta Thalassemia Trait
Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Heterozygous
Beta-Aminoisobutyric Acid, Urinary Excretion Of
Beta-Catenin-Activated Hepatocellular Adenoma
Beta-Galactosidase Deficiency
Beta-Hexosaminidase A, Pseudodeficiency Of
Beta-Hydroxyisobutyryl Coa Deacylase Deficiency
Beta-Knossos-Thalassemia
Beta-Malay-Thalassemia
Beta-Mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
Beta-Plus-Thalassemia, Dominant
Beta-Sarcoglycanopathy
Beta-Showa-Yakushiji Thalassemia
Beta-Thalassemia
Beta-Ureidopropionase Deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
Beta^+^ Thalassemia
Beta^0^ Thalassemia
Bethlem Myopathy OMIM mapping confirmed by DO. [SN].
Biallelic Rpe65 Mutation Associated Retinal Dystrophy
Bicornuate Uterus The presence of a bicornuate uterus.
Bicoronal Craniosynostosis
Bicoronal Synostosis
Bicuspid Aortic Valve The presence of an aortic valve with two instead of the normal three cusps (flaps).
Bicuspid Pulmonary Valve The presence of a bicuspid pulmonary valve.
Bidirectional Tachycardia
Bietti Crystalline Corneoretinal Dystrophy OMIM mapping confirmed by DO. [SN].
Bifid Distal Phalanx Of Toe
Bifid Epiglottis A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.
Bifid Femur A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.
Bifid Nose Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
Bifid Scrotum Midline indentation or cleft of the scrotum.
Bifid Tongue Tongue with a median apical indentation or fork.
Bifid Ureter Incomplete duplication of the ureter.
Bifid Uvula Uvula separated into two parts most easily seen at the tip.
Bilateral Agenesis
Bilateral Arterial Duct
Bilateral Breast Cancer A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.
Bilateral Breast Hypoplasia
Bilateral Camptodactyly
Bilateral Carpal Tunnel Syndrome
Bilateral Cataracts (Disorder)
Bilateral Cerebral Palsy
Bilateral Choanal Atresia
Bilateral Choanal Atresia/Stenosis
Bilateral Cleft Lip A non-midline cleft of the upper lip on the left and right sides.
Bilateral Congenital Dislocation Of Hip
Bilateral Cryptorchidism Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Bilateral Facial Muscle Weakness
Bilateral Fetal Pyelectasis
Bilateral Foot Drop
Bilateral Glaucoma
Bilateral Hydronephrosis
Bilateral Inguinal Hernia
Bilateral Lung Agenesis Bilateral lack of development of the lungs.
Bilateral Malignant Neoplasm
Bilateral Microphthalmos A developmental anomaly characterized by abnormal smallness of both eyes.
Bilateral Multicystic Dysplastic Kidneys
Bilateral Nanophthalmos
Bilateral Nasal Obstruction
Bilateral Optic Neuritis
Bilateral Periventricular Nodular Heterotopia
Bilateral Pheochromocytoma And Islet Cell Adenoma Of The Pancreas
Bilateral Polymicrogyria
Bilateral Postaxial Polydactyly
Bilateral Renal Artery Stenosis
Bilateral Renal Dysplasia
Bilateral Renal Hypoplasia
Bilateral Sensory Hearing Loss
Bilateral Superior Oblique Palsy
Bilateral Triphalangeal Thumbs A bilateral form of triphalangeal thumb.
Bilateral Vestibulopathy
Bilateral Vocal Cord Paralysis
Bilateral Wilms Tumor
Bile Acid Coa Ligase Deficiency And Defective Amidation
Bile Acid Diarrhea
Bile Acid Malabsorption
Bile Acid Malabsorption, Primary
Bile Acid Synthesis Defect
Bile Duct Adenocarcinoma A bile duct carcinoma that derives_from epithelial cells of glandular origin.
Bile Duct Adenoma An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
Bile Duct Cancer Resectable
Bile Duct Carcinoma A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Bile Duct Cystadenocarcinoma
Bile Duct Hyperplasia
Bile Duct Proliferation Proliferative changes of the bile ducts.
Bile Duct Stenosis
Bile Reflux
Biliary Acute Pancreatitis
Biliary Adenoma
Biliary Atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Biliary Atresia With Splenic Malformation Syndrome
Biliary Carcinoma
Biliary Cirrhosis liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts
Biliary Cirrhosis, Primary, 1
Biliary Hamartoma
Biliary Hyperplasia Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.
Biliary Intraepithelial Neoplasia
Biliary Papillomatosis A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
Biliary Sludge
Biliary Stricture
Biliary System Disorder
Biliary Tract Cancer A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
Biliary Tract Carcinoma
Biliary Tract Neoplasm A hepatobiliary benign neoplasm located_in the biliary tract.
Bilobate Gallbladder The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.
Biloma
Bing-Neel Syndrome
Binswanger Disease
Biotin Deficiency
Biotin Deficiency Disease
Biotin-Dependent Carboxylase Deficiency, Unspecified
Biotin-Responsive Encephalopathy
Biotinidase Deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase.
Biphasic Pulmonary Blastoma
Bipolar Disorder A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).
Bipolar Type I Disorder
Birbeck Granule Deficiency
Birch Pollen Allergy
Birdshot Chorioretinitis
Birdshot Chorioretinopathy Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.
Birk-Barel Mental Retardation Dysmorphism Syndrome