Cytoscape Web
Click node...

Rhizomelic chondrodysplasia punctata type 2
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Rhizomelic chondrodysplasia punctata type 3
Fanconi anemia
Hereditary breast and ovarian cancer syndrome
Hypocalcemic vitamin D-resistant rickets
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic 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
GNPAT O15228602744
No signs/symptoms info available.