All terms in DOID

Label Id Description
congenital generalized lipodystrophy DOID_0050585 [A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.]
susceptibility to autosomal dominant parkinson disease 18 MIM_614251
cleft lip DOID_9296 [An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.]
lip disease DOID_9297 [A mouth disease located_in the lip.]
congenital generalized lipodystrophy type 2 DOID_0111136 [A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.]
congenital generalized lipodystrophy type 3 DOID_0111137 [A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.]
focal segmental glomerulosclerosis 9 DOID_0111134 [A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3.]
mesonephric epithelium UBERON_0005103
congenital generalized lipodystrophy type 1 DOID_0111135 [A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.]
obsolete penile vascular disorder DOID_9287
priapism DOID_9286 [A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.]
mitochondrial DNA depletion syndrome-21 DOID_0051029 [A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42.]
visceral heterotaxy 13 DOID_0051027 [A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13.]
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis DOID_0051028 [A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.]
Charcot-Marie-Tooth disease type 4 DOID_0050541 [A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.]
Bryant-Li-Bhoj neurodevelopmental syndrome DOID_0051010 [An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities.]
nephronophthisis 13 DOID_0111121 [A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.]
Bryant-Li-Bhoj neurodevelopmental syndrome 1 DOID_0051011 [A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.]
nephronophthisis 14 DOID_0111122 [A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.]
nephronophthisis 9 DOID_0111120 [A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.]