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chondrodysplasia punctata
Summary
- Synonym
-
- Chondrodysplasia punctata congenita
- Definition
- A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
- Super Class
- monogenic disease syndrome
External Links
- Disease Ontology
- DOID:2581
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51690 | Arylsulfatase L | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
