acrocallosal syndrome
Information
- Disease name
- acrocallosal syndrome
- Disease ID
- DOID:9250
- Description
- "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation." [url:http\://en.wikipedia.org/wiki/Acrocallosal_syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:5721
- Cross Reference ID (Disease Ontology)
- MESH:D055673
- Cross Reference ID (Disease Ontology)
- MIM:200990
- Cross Reference ID (Disease Ontology)
- NCI:C84531
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715951007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0796147
- Exact Synonym (Disease Ontology)
- ACLS
- Exact Synonym (Disease Ontology)
- SCHINZEL ACROCALLOSAL SYNDROME
- Exact Synonym (Disease Ontology)
- Schinzel syndrome 1
- OrphaNumber from OrphaNet (Orphanet)
- 36
- MeSH unique ID (MeSH (Medical Subject Headings))
- D055673