X-Linked Chondrodysplasia Punctata 2
Disease ID: disease_node_19139
Connections displayed (default: 10).
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| Dbxref | MIM:302960 |
|---|---|
| Subclassof | DOID_0080009, DOID_2581 |
| Data Source | DOID |
| Synonyms | Conradi-Hunermann Syndrome, Happle syndrome |
| Doid Label | X-linked chondrodysplasia punctata 2 |
| Doid Description | A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_19139 |
| Doid Id | DOID_0080352 |
| Label | X-Linked Chondrodysplasia Punctata 2 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chondrodysplasia Punctata(ID:disease_node_2065) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia(ID:disease_node_19140) (Disease)