Chondrodysplasia With Joint Dislocations Gpapp Type
Disease ID: disease_node_15641
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| Dbxref | GARD:11009, MIM:614078, ORDO:280586 |
|---|---|
| Subclassof | DOID_2256, DOID_0050737 |
| Data Source | DOID |
| Synonyms | gPAPP deficiency |
| Doid Label | chondrodysplasia with joint dislocations gPAPP type |
| Doid Description | An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15641 |
| Doid Id | DOID_0112224 |
| Label | Chondrodysplasia With Joint Dislocations Gpapp Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)