OBO ID: DOID:0060292
Term Name: X-linked chondrodysplasia punctata 1 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060292 )
Relationships
is a type of:
OTHER X-linked chondrodysplasia punctata 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARSD Chondrodysplasia punctata, X-linked recessive 302950
ARSE Chondrodysplasia punctata, X-linked recessive 302950
ARSF Chondrodysplasia punctata, X-linked recessive 302950
ARSH Chondrodysplasia punctata, X-linked recessive 302950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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