Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hereditary sensory neuropathy type 1D	DOID_0070156	[A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.]
hereditary sensory and autonomic neuropathy type 1C	DOID_0070157	[A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.]
canis group	NCBITaxon_106178
Ehrlichia	NCBITaxon_943
phagocytophilum group	NCBITaxon_106179
Anaplasma	NCBITaxon_768
Meckel syndrome 7	DOID_0070121	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1.]
Meckel syndrome	DOID_0050778	[A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.]
hypomyelinating leukodystrophy 13	DOID_0060795	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.]
Meckel syndrome 8	DOID_0070122	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31.]
hypomyelinating leukodystrophy 12	DOID_0060796	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.]
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	DOID_0060797	[A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.]
Meckel syndrome 6	DOID_0070120	[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32.]
hypomyelinating leukodystrophy 6	DOID_0060798	[A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.]
neck of organ	UBERON_0001560
zone of organ	UBERON_0034944
syndromic X-linked intellectual disability Lubs type	DOID_0060799	[A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.]
syndromic X-linked intellectual disability	DOID_0060309	[A syndromic intellectual characterized by an X-linked inheritance pattern.]
autosomal recessive cutis laxa type IID	DOID_0070129	[An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.]
congenital nongoitrous hypothyroidism 3	DOID_0070127	[A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1.]