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Rhizomelic chondrodysplasia punctata type 1
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Refsum disease
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Ketoacidosis due to beta-ketothiolase deficiency
Synonym(s):
(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
PEX7 O00628601757
No signs/symptoms info available.