Cytoscape Web
Click node...

Brachytelephalangic chondrodysplasia punctata
2 OMIM references -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
1 MeSH reference: C535941
Gene symbol UniProt reference OMIM reference
ARSE P51690300180
No signs/symptoms info available.