All terms in DOID

Label Id Description
oculocerebrorenal syndrome DOID_1056 [A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.]
Abnormality of body height HP_0000002
obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes DOID_1055
obsolete glaucoma associated with chamber angle anomalies DOID_1054
obsolete developmental dislocation of joint DOID_1053
otosclerosis 1 DOID_0060920 [An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1.]
otosclerosis 2 DOID_0060921 [An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q.]
otosclerosis 3 DOID_0060922 [An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p.]
otosclerosis 4 DOID_0060923 [An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q.]
persistent vegetative state SYMP_0000481 [An alteration of consciousness that is characterized by an individual with severe brain damage being in a state of partial arousal rather than true awareness. After four weeks in a vegetative state, the patient is classified as being in a persistent vegetative state. After three months in the US and six months in the UK, the diagnosis is classified as a permanent vegetative state after a non-traumatic brain injury, or, one year after a traumatic injury.]
obsolete Vibrio cholerae O1 biovar El Tor cholera DOID_2381 [A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor.]
kernicterus DOID_2382 [A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.]
neonatal jaundice DOID_2383 [A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.]
Wernicke encephalopathy DOID_2384 [A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).]
obsolete thiamine deficiency DOID_2385
abnormal bowel sound SYMP_0000489
renal artery disease DOID_2388
obsolete fibromuscular dysplasia DOID_2389
dysuria SYMP_0000485 [A urinary system symptom that is characterized by the difficult, or painful, discharge of urine.]
Abnormality of the female genitalia HP_0010460