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X-linked chondrodysplasia punctata 1
Summary
- Synonym
-
- chondrodystrophia calcificans congenita
- Definition
- A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.
- Super Class
- X-linked recessive disease chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0060292
- Mondo Disease Ontology
- MeSH
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51690 | Arylsulfatase L |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P70245 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001631 | Atrial septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001742 | Nasal congestion |
| HP:0001857 | Short distal phalanx of toe |
| HP:0002000 | Short columella |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002099 | Asthma |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002341 | Cervical cord compression |
| HP:0002643 | Neonatal respiratory distress |
