X-linked chondrodysplasia punctata 1
Information
- Disease name
- X-linked chondrodysplasia punctata 1
- Disease ID
- DOID:0060292
- Description
- "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." [url:https\://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2581
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q77.3
- Cross Reference ID (Disease Ontology)
- MESH:C580533
- Cross Reference ID (Disease Ontology)
- MIM:302950
- Cross Reference ID (Disease Ontology)
- ORDO:35173
- Exact Synonym (Disease Ontology)
- chondrodystrophia calcificans congenita