All terms in DOID

Label Id Description
transient neonatal diabetes mellitus 2 DOID_0061174 [A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15.]
Gollop-Wolfgang complex DOID_0061175 [A physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities.]
developmental and epileptic encephalopathy 118 DOID_0061176 [A developmental and epileptic encephalopathy characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21.]
X-linked spermatogenic failure 9 DOID_0061177 [A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22.]
autosomal recessive congenital nystagmus 8 DOID_0061178 [A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2.]
Adams-Oliver syndrome 3 DOID_0061179 [An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15.]
Adams-Oliver syndrome DOID_0060227 [A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.]
childhood central nervous system embryonal tumor DOID_3870 [A central nervous system embryonal tumor that occurs in childhood.]
obsolete medulloblastoma with leptomeningeal spread DOID_3871
obsolete leptomeningeal metastases DOID_3872
desmoplastic/nodular medulloblastoma DOID_3873 [A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.]
extratemporal epilepsy DOID_2544 [An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.]
colonic pseudo-obstruction DOID_3876
functional colonic disease DOID_3877
obsolete congenital epilepsy DOID_2545
dicrocoeliasis DOID_1219 [A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain.]
obsolete atonic epilepsy DOID_2546
echinostomiasis DOID_1218 [A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.]
immunodeficiency 130 with HPV-related verrucosis DOID_0061171 [A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21.]
fascioloidiasis DOID_1217 [A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna.]