All terms in DOID

Label Id Description
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 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.]
Spinareoviridae NCBITaxon_2946187
Orthoherpesviridae NCBITaxon_3044472
Herpesvirales NCBITaxon_548681
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.]
typical adult-onset autosomal dominant demyelinating leukodystrophy DOID_0060785 [An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.]
adult onset demyelinating leukodystrophy DOID_0051015 [A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.]
autosomal dominant cutis laxa 1 DOID_0070130 [An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.]
leukodystrophy DOID_10579 [A cerebral degeneration characterized by dysfunction of the white matter of the brain.]
autosomal dominant cutis laxa 3 DOID_0070131 [An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.]
hypomyelinating leukodystrophy 2 DOID_0060787 [A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.]
hypomyelinating leukodystrophy 10 DOID_0060788 [A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.]
hypomyelinating leukodystrophy 4 DOID_0060789 [A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.]
Lentivirus humimdef2 NCBITaxon_3418651
Lentivirus humimdef1 NCBITaxon_3418650
autosomal recessive cutis laxa type IIIB DOID_0070138 [An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.]