Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Mycobacteriaceae	NCBITaxon_1762
autoimmune lymphoproliferative syndrome type 3	DOID_0110119	[An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.]
Bartter disease type 1	DOID_0110142	[A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.]
Bartter disease	DOID_445
combined oxidative phosphorylation deficiency 5	DOID_0111473	[A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23.]
Bartter disease type 2	DOID_0110143	[A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.]
combined oxidative phosphorylation deficiency 1	DOID_0111474	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32.]
Bardet-Biedl syndrome 18	DOID_0110140	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25.]
combined oxidative phosphorylation deficiency 30	DOID_0111471	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3.]
Bardet-Biedl syndrome 19	DOID_0110141	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.]
combined oxidative phosphorylation deficiency 9	DOID_0111472	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1.]
combined oxidative phosphorylation deficiency 28	DOID_0111470	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1.]
African tick-bite fever	DOID_0050035	[A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.]
pharyngeal pouch	UBERON_0004117
endoderm of foregut	UBERON_0003258
combined oxidative phosphorylation deficiency 8	DOID_0111479	[A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1.]
Charcot-Marie-Tooth disease type 1A	DOID_0110148	[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).]
Charcot-Marie-Tooth disease type 1F	DOID_0110149	[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.]
combined oxidative phosphorylation deficiency 14	DOID_0111477	[A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1.]
Bartter disease type 4b	DOID_0110146	[A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.]