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Rhizomelic chondrodysplasia punctata type 3
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Rhizomelic chondrodysplasia punctata type 2
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Adrenomyeloneuropathy
CADDS
Leukoencephalopathy - dystonia - motor neuropathy
X-linked cerebral adrenoleukodystrophy
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
AGPS O00116603051
No signs/symptoms info available.