ZFIN Human Disease: trichorhinophalangeal syndrome type III

OBO ID: DOID:0080376

Term Name:	trichorhinophalangeal syndrome type III		Search Ontology:
Synonyms:	trichorhinophalangeal syndrome type 3
Definition:	A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. https://rarediseases.info.nih.gov/diseases/7802/disease
References:	OMIM:190351 ORDO:77258
Ontology:	Human Disease ( DOID:0080376 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRPS1	trps1	Trichorhinophalangeal syndrome, type III	190351

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None