All terms in DOID

Label Id Description
hypomyelinating leukodystrophy 8 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 the CC2D2A gene 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 disability 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 heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1.]
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.]