Acromesomelic Dysplasia, Grebe Type
Disease ID: disease_node_15659
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| Dbxref | GARD:1300, MIM:200700, ORDO:2098 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080049 |
| Data Source | DOID |
| Synonyms | acromesomelic dysplasia-2A, grebe chondrodysplasia |
| Doid Label | acromesomelic dysplasia, Grebe type |
| Doid Description | An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15659 |
| Doid Id | DOID_0080052 |
| Label | Acromesomelic Dysplasia, Grebe Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)