Orofaciodigital Syndrome Xix
Disease ID: disease_node_19252
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| Dbxref | MIM:620107 |
|---|---|
| Subclassof | DOID_0050737, DOID_4501 |
| Data Source | DOID |
| Synonyms | Oral-facial-digital syndrome type XIX |
| Doid Label | orofaciodigital syndrome XIX |
| Doid Description | An orofaciodigital syndrome that is characterized by tongue nodules, dental anomalies including congenital absence or abnormal shape of incisors, narrow, high-arched or cleft palate, retrognathia, and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19252 |
| Doid Id | DOID_0060960 |
| Label | Orofaciodigital Syndrome Xix |
- Outgoing r'ship
SUBCLASS_OFto/from Orofaciodigital Syndromes(ID:disease_node_5739) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)