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46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
1 OMIM reference -
4 associated genes
9 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Autosomal thrombocytopenia with normal platelets
Autosomal dominant hypohidrotic ectodermal dysplasia
Familial isolated dilated cardiomyopathy
Isolated ATP synthase deficiency
Muscular dystrophy, Selcen type
Recessive hereditary methemoglobinemia type 1
Recessive hereditary methemoglobinemia type 2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare urogenital disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
AKR1C2 P52895600450
AKR1C4 P17516600451
CYB5A P00167613218
CYP17A1 P05093609300
No signs/symptoms info available.