Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Miyoshi muscular dystrophy 1	DOID_0070199	[A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13.]
infantile-onset distal myopathy	DOID_0070196	[A distal muscular dystrophy characterized by autosomal dominant inheritance, infantile onset and progressive disease development.]
distal myopathy 1	DOID_0070197	[A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.]
autosomal recessive chronic granulomatous disease cytochrome b-positive type III	DOID_0070194	[A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.]
X-linked chronic granulomatous disease	DOID_0070195	[A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4.]
autosomal recessive chronic granulomatous disease cytochrome b-positive type I	DOID_0070192	[A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.]
autosomal recessive chronic granulomatous disease cytochrome b-negative	DOID_0070193	[A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.]
Paracoccidioides brasiliensis	NCBITaxon_121759
Paracoccidioides	NCBITaxon_38946
Lacazia loboi	NCBITaxon_121752
spermatogenic failure 18	DOID_0070165	[A male infertility characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.]
spermatogenic failure 20	DOID_0070166	[A male infertility characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13.]
spermatogenic failure 21	DOID_0070163	[A male infertility characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22.]
pseudouridine	SO_0001229	[A modified RNA base in which the 5- position of the uracil is bound to the ribose ring instead of the 4- position.]
modified_uridine	SO_0001277
spermatogenic failure 2	DOID_0070164	[A male infertility characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1.]
dihydrouridine	SO_0001228	[A modified RNA base in which the 5,6-dihydrouracil is bound to the ribose ring.]
Candida <clade Candida/Lodderomyces clade>	NCBITaxon_1535326
Candida/Lodderomyces clade	NCBITaxon_1535325
hereditary sensory and autonomic neuropathy type 2	DOID_0070161	[A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.]