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Human Disease

trichorhinophalangeal syndrome type I

Term ID
DOID:14743
Synonyms
  • Trichorhinophalangeal dysplasia type I
  • trichorhinophalangeal syndrome type 1
  • type I trichorhinophalangeal syndrome
Definition
A syndrome 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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models