Version: 8.0.0Date: Tue Jan 28 2025
Disease
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.S (Xla)...sox10 (Dre)...sox10 (Xtr)...Sox10 (Rno)...Sox10 (Mmu)
Alleles: Sox10
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 (Xtr)...Sox10 (Rno)...sox10 (Dre)...Sox10 (Mmu)...SOX10 (Hsa)
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 (Xtr)...Sox10 (Rno)...sox10 (Dre)...Sox10 (Mmu)...SOX10 (Hsa)
Alleles: Sox10
Disease
Source: DOID:3614
Definition: A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
Genes: sox10.S (Xla)...sox10 (Dre)...sox10 (Xtr)...Sox10 (Rno)...Sox10 (Mmu)
Alleles: Sox10
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 (Rno)...Sox100B (Dme)...Sox10 (Mmu)...SOX10 (Hsa)...sox10 (Dre)
Disease
Source: DOID:0050463
Definition: An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
Genes: Sox100B (Dme)
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: Sox100B (Dme)...Sox10 (Mmu)...SOX10 (Hsa)...sox10 (Xtr)...sox10 (Dre)
Disease
Source: DOID:114
Definition: A cardiovascular system disease that involves the heart.
Genes: Sox102F (Dme)
Alleles: Sox102F
Disease
Source: DOID:3905
Definition: A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
Genes: Sox100B (Dme)
Disease
Source: DOID:10652
Definition: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
Genes: Sox102F (Dme)
Alleles: Sox102F
Disease
Source: DOID:1324
Definition: A respiratory system cancer that is located_in the lung.
Genes: Sox100B (Dme)
Disease
Source: DOID:3070
Definition: A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
Genes: Sox102F (Dme)