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X-linked congenital generalized hypertrichosis
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
46,XX testicular disorder of sex development
Panhypopituitarism
Septo-optic dysplasia
X-linked intellectual deficit with isolated growth hormone deficiency
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Synonym(s):
- Congenital generalized hypertrichosis, Macias-Flores type
- Macias Flores-Garcia Cruz-Rivera syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SOX3 P41225313430
No signs/symptoms info available.