All terms in DOID

Label Id Description
congenital secretory chloride diarrhea 1 DOID_0060296 [A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31.]
complement component 2 deficiency DOID_0060295 [A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.]
autosomal dominant chondrodysplasia punctata DOID_0060293 [A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.]
conversion disorder DOID_1768 [A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.]
X-linked chondrodysplasia punctata 1 DOID_0060292 [A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.]
unilateral hyperactive labyrinth DOID_1777
labyrinthine unilateral reactive loss DOID_1776
toxic megacolon DOID_1770
early myoclonic encephalopathy DOID_308
obsolete dyskinetic syndrome DOID_306
squamous cell of epidermis CL_0002190
susceptibility to epidermodysplasia verruciformis 3 MIM_618267
cornea plana DOID_0060287 [A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D.]
parietal foramina DOID_0060285 [An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.]
paroxysmal nocturnal hemoglobinuria DOID_0060284 [An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.]
persistent hyperplastic primary vitreous DOID_0060282 [A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.]
photosensitive epilepsy DOID_0060281 [An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.]
obsolete malignant lymphatic vessel tumor DOID_1744
Van der Woude syndrome DOID_0060239 [A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.]
drug psychosis DOID_1742