Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete AIDS-related Human papillomavirus infectious disease	DOID_7498	[A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS.]
Charcot-Marie-Tooth disease dominant intermediate G	DOID_0080294
Charcot-Marie-Tooth disease intermediate type	DOID_0050543	[A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.]
short-rib thoracic dysplasia 19 with or without polydactyly	DOID_0080295
asphyxiating thoracic dystrophy	DOID_0050592	[A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.]
hypomyelinating leukodystrophy 14	DOID_0080296
Coffin-Siris syndrome 6	DOID_0080297
familial erythrocytosis 5	DOID_0080290	[A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.]
early infantile epileptic encephalopathy 59	DOID_0080291	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.]
retinitis pigmentosa 81	DOID_0080292
short-rib thoracic dysplasia 18 with polydactyly	DOID_0080293
hypotrichosis of eyelid	DOID_11671
swelling symptom	SYMP_0000716
autosomal dominant nonsyndromic deafness 73	DOID_0080269
obsolete residual subchronic schizophrenia	DOID_10340
leg swelling	SYMP_0000717
intraretinal hemorrhage	SYMP_0000714
skin desquamation	SYMP_0000715	[A skin and integumentary tissue symptom characterized by the peeling off of skin in the form of scales.]
infertility	SYMP_0000712	[Infertility is a reproductive system symptom characterized as the biological inability of a man or a woman to contribute to conception or the state of a woman who is unable to carry a pregnancy to full term.]
nephrotic syndrome type 14	DOID_0080265	[A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.]