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Cytomegalic congenital adrenal hypoplasia
2 OMIM references -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
46,XX gonadal dysgenesis
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Estrogen resistance syndrome
Glucocorticoid resistance
Synonym(s):
- X-linked congenital adrenal hypoplasia
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
NR0B1 P51843300473
No signs/symptoms info available.