Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
congenital hypothyroidism	DOID_0050328	[A hypothyroidism that is present at birth.]
congenital nongoitrous hypothyroidism 6	DOID_0070128	[A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1.]
hypomyelinating leukodystrophy 3	DOID_0060790	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.]
upper respiratory tract	UBERON_0001557
congenital nongoitrous hypothyroidism 5	DOID_0070125	[A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.]
hypomyelinating leukodystrophy 9	DOID_0060791	[A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.]
lower respiratory tract	UBERON_0001558
congenital nongoitrous hypothyroidism 1	DOID_0070126	[A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31.]
hypomyelinating leukodystrophy 11	DOID_0060792	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.]
congenital nongoitrous hypothyroidism 4	DOID_0070123	[A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.]
hypomyelinating leukodystrophy 5	DOID_0060793	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.]
congenital nongoitrous hypothyroidism 2	DOID_0070124	[A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.]
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism	DOID_0060794	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.]
Coltivirus	NCBITaxon_10911
Spinareovirinae	NCBITaxon_689831
autosomal recessive cutis laxa type IIIA	DOID_0070132	[A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.]
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	DOID_0060784	[An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3.]
EEC syndrome	DOID_0060782	[A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).]
autosomal recessive cutis laxa type IB	DOID_0070133	[An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.]
adult-onset autosomal dominant demyelinating leukodystrophy	DOID_0060785	[A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q.]