All terms in DOID

Label Id Description
Barber-Say syndrome DOID_0060549 [A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.]
Hermansky-Pudlak syndrome 2 DOID_0060540 [A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.]
Hermansky-Pudlak syndrome 3 DOID_0060541 [A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.]
3MC syndrome 1 DOID_0060575 [A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.]
3MC syndrome DOID_0060225 [A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.]
imidazolidinone CHEBI_55370
imidazolidines CHEBI_38261
3MC syndrome 2 DOID_0060576 [A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.]
3MC syndrome 3 DOID_0060577 [A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.]
Noonan syndrome 1 DOID_0060578 [A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.]
isoxazoles CHEBI_55373
oxazole CHEBI_35790
cardiac tuberculosis DOID_0060570 [A tuberculosis located in the heart.]
heart disease DOID_114 [A cardiovascular system disease that involves the heart.]
tuberculosis DOID_399 [A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.]
Ritscher-Schinzel syndrome 1 DOID_0060571 [A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.]
Ritscher-Schinzel syndrome DOID_0060565 [A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.]
Ritscher-Schinzel syndrome 2 DOID_0060572 [A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.]
X-linked recessive disease DOID_0080012 [A X-linked monogenic disease that has_material_basis_in recessive inheritance.]
von Willebrand's disease 1 DOID_0060573 [A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.]