Chondrodysplasia Punctata, Rhizomelic
Disease ID: disease_node_9832
Connections displayed (default: 10).
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| Dbxref | GARD:13160, ICD10CM:E71.540, MESH:D018902, MIM:PS215100, NCI:C85047, ORDO:177, SNOMEDCT_US_2023_03_01:56692003, UMLS_CUI:C0282529 |
|---|---|
| Subclassof | DOID_0050737, DOID_2581 |
| Data Source | DOID, MESH |
| Synonyms | Chondrodysplasia Punctata, Rhizomelic Form |
| Mesh Id | D018902 |
| Mesh Label | Chondrodysplasia Punctata, Rhizomelic |
| Mesh Subclassof | D002806, D018901 |
| Doid Label | rhizomelic chondrodysplasia punctata |
| Doid Description | A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_9832 |
| Doid Id | DOID_2580 |
| Label | Chondrodysplasia Punctata, Rhizomelic |
- Incoming r'ship
SUBCLASS_OFto/from Rhizomelic Chondrodysplasia Punctata Type 5(ID:disease_node_19142) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Rhizomelic Chondrodysplasia Punctata Type 1(ID:disease_node_19143) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Rhizomelic Chondrodysplasia Punctate Type 4(ID:disease_node_19144) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chondrodysplasia Punctata(ID:disease_node_2065) (Disease)