Search Ontology:
Human Disease
X-linked chondrodysplasia punctata 1
- Term ID
- DOID:0060292
- Synonyms
-
- chondrodystrophia calcificans congenita
- Definition
- A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity. https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata
- References
-
- ICD10CM:Q77.3
- MESH:C580533
- OMIM:302950
- ORDO:35173
- Ontology
- Human Disease ( DOID:0060292 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models
Citations