ZFIN Human Disease: camptodactyly-tall stature-scoliosis-hearing loss syndrome

OBO ID: DOID:0111160

Term Name:	camptodactyly-tall stature-scoliosis-hearing loss syndrome		Search Ontology:
Synonyms:	CATSHL syndrome
Definition:	A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. (2)
References:	MESH:C537975 OMIM:610474 ORDO:85164 SNOMEDCT_US_2023_03_01:720601000 UMLS_CUI:C1864852
Ontology:	Human Disease ( DOID:0111160 )

Relationships

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

OTHER camptodactyly-tall stature-scoliosis-hearing loss syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FGFR3	fgfr3	CATSHL syndrome	610474

ZEBRAFISH MODELS

Fish	Conditions	Citations
fgfr3^{zf3388/zf3388} (AB)	standard conditions	Sun et al., 2020
fgfr3^{zf3389/zf3389} (AB)	standard conditions	Sun et al., 2020

PHENOTYPE No data available

CITATIONS (1)