Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: Sox10 (Mmu)
Disease
Source: DOID:0110956
Definition: A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.
Genes: Sox10 (Mmu)
Disease
Source: DOID:0090111
Definition: A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.
Genes: Sox10 (Mmu)
Disease
Source: DOID:10487
Definition: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Genes: Sox10 (Mmu)
Disease
Source: DOID:9258
Definition: A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Genes: Sox10 (Mmu)
Disease
Source: DOID:0110955
Definition: A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.
Genes: Sox10 (Mmu)
Disease
Source: DOID:3614
Definition: A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
Genes: Sox10 (Mmu)