Autosomal Recessive Craniometaphyseal Dysplasia
Disease ID: disease_node_19043
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| Dbxref | MIM:218400 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080033 |
| Data Source | DOID |
| Doid Label | autosomal recessive craniometaphyseal dysplasia |
| Doid Description | A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19043 |
| Doid Id | DOID_0080802 |
| Label | Autosomal Recessive Craniometaphyseal Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Craniometaphyseal Dysplasia(ID:disease_node_19042) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)