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, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata
References
Ontology
Human Disease   ( DOID:0060292 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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