ZFIN Human Disease: trichorhinophalangeal syndrome type I

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:	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:	MESH:C536820 NCI:C75109 OMIM:190350 ORDO:77258 SNOMEDCT_US_2023_03_01:239016009 UMLS_CUI:C0432233
Ontology:	Human Disease ( DOID:14743 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER trichorhinophalangeal syndrome type I PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRPS1	trps1	Trichorhinophalangeal syndrome, type I	190350

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None