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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:0000327 | Hypoplasia of the maxilla |
| HP:0000410 | Mixed hearing impairment |
| HP:0000455 | Broad nasal tip |
| HP:0000457 | Depressed nasal ridge |
| HP:0000518 | Cataract |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0000919 | Abnormality of the costochondral junction |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0001263 | Global developmental delay |
| HP:0001629 | Ventricular septal defect |
