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ZIRC
OBO ID: DOID:14743
Term Name: trichorhinophalangeal syndrome type I Search Ontology:
Synonyms:
  • Trichorhinophalangeal dysplasia type I
  • trichorhinophalangeal syndrome type 1
  • type I trichorhinophalangeal syndrome
Definition: An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). (3)
References:
Ontology: Human Disease   (DOID:14743)
OTHER trichorhinophalangeal syndrome type I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRPS1 Trichorhinophalangeal syndrome, type I 190350
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None