All terms in DOID

Label Id Description
autosomal recessive nonsyndromic deafness 45 DOID_0110502 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44.]
X-linked spinocerebellar ataxia 5 DOID_0111833 [An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1.]
X-linked cerebellar ataxia DOID_0111828 [A hereditary ataxia characterized by X-linked inheritance.]
congenital amegakaryocytic thrombocytopenia 1 DOID_0061005 [A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34.]
autosomal recessive nonsyndromic deafness 46 DOID_0110503 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31.]
X-linked reticulate pigmentary disorder DOID_0111834 [A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3.]
advanced sleep phase syndrome 4 DOID_0061006 [An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13.]
X-linked spinocerebellar ataxia 3 DOID_0111831 [An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.]
autosomal recessive nonsyndromic deafness 42 DOID_0110500 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13.]
sideroblastic anemia 5 DOID_0061007 [A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12.]
X-linked spinocerebellar ataxia 4 DOID_0111832 [An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.]
autosomal recessive nonsyndromic deafness 44 DOID_0110501 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12.]
craniosynostosis 6 DOID_0061008 [A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24.]
craniosynostosis 2 DOID_0061009 [A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35.]
X-linked spinocerebellar ataxia 2 DOID_0111830 [An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.]
congenital disorder of glycosylation Icc DOID_0111839 [A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1.]
autosomal recessive nonsyndromic deafness 51 DOID_0110508 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12.]
autosomal recessive nonsyndromic deafness 53 DOID_0110509 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.]
congenital nongoitrous hypothyroidism 8 DOID_0111837 [A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2.]
autosomal recessive nonsyndromic deafness 49 DOID_0110506 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13.]