Rhizomelic Chondrodysplasia Punctata Type 5
Disease ID: disease_node_19142
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| Dbxref | MIM:616716, ORDO:468717 |
|---|---|
| Subclassof | DOID_2580 |
| Data Source | DOID |
| Synonyms | RCDP5 |
| Doid Label | rhizomelic chondrodysplasia punctata type 5 |
| Doid Description | A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. |
| Disease Node Id | disease_node_19142 |
| Doid Id | DOID_0110854 |
| Label | Rhizomelic Chondrodysplasia Punctata Type 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Chondrodysplasia Punctata, Rhizomelic(ID:disease_node_9832) (Disease)