Acrocallosal Syndrome
Disease ID: disease_node_12106
Connections displayed (default: 10).
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| Dbxref | GARD:5721, MESH:D055673, MIM:200990, NCI:C84531, SNOMEDCT_US_2023_03_01:715951007, UMLS_CUI:C0796147 |
|---|---|
| Subclassof | DOID_225, DOID_0080578 |
| Data Source | DOID, MESH |
| Synonyms | ACLS, SCHINZEL ACROCALLOSAL SYNDROME, Schinzel syndrome 1 |
| Mesh Id | D055673 |
| Mesh Label | Acrocallosal Syndrome |
| Mesh Subclassof | D061085 |
| Doid Label | acrocallosal syndrome |
| Doid Description | A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. OMIM mapping confirmed by DO. [SN]. |
| Has Phenotype | HP_0001274 |
| Has Material Basis In | GENO_0000932, GENO_0000930 |
| Disease Node Id | disease_node_12106 |
| Doid Id | DOID_9250 |
| Label | Acrocallosal Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease)