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Goldmann-Favre syndrome
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
Retinitis pigmentosa
Acute promyelocytic leukemia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Cone rod dystrophy
Leber congenital amaurosis
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Glucocorticoid resistance
Pure hair and nail ectodermal dysplasia
Hypocalcemic vitamin D-resistant rickets
Synonym(s):
- Enhanced S-cone syndrome
- Retinoschisis with early nyctalopia
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NR2E3 Q9Y5X4604485
No signs/symptoms info available.