Chondrodysplasia Punctata
Disease ID: disease_node_2065
Connections displayed (default: 10).
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| Dbxref | GARD:8542, ICD10CM:Q77.3, MESH:D002806, MIM:215105, NCI:C84632, ORDO:93442, SNOMEDCT_US_2023_03_01:205486004, UMLS_CUI:C0008445 |
|---|---|
| Subclassof | DOID_225, DOID_0050177 |
| Data Source | DOID, MESH |
| Synonyms | Chondrodysplasia punctata congenita |
| Mesh Id | D002806 |
| Mesh Label | Chondrodysplasia Punctata |
| Mesh Subclassof | D010009 |
| Doid Label | chondrodysplasia punctata |
| Doid Description | A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. DeObs MGI. |
| Disease Node Id | disease_node_2065 |
| Doid Id | DOID_2581 |
| Disease Has Basis In | SO_0000704 |
| Label | Chondrodysplasia Punctata |
- Incoming r'ship
SUBCLASS_OFto/from X-Linked Chondrodysplasia Punctata 2(ID:disease_node_19139) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Chondrodysplasia Punctata, Rhizomelic(ID:disease_node_9832) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Monogenic Disease(ID:disease_node_13650) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Autosomal Domit Chondrodysplasia Punctata(ID:disease_node_19141) (Disease)