ZFIN Human Disease: temtamy preaxial brachydactyly syndrome

OBO ID: DOID:0050814

Term Name:	temtamy preaxial brachydactyly syndrome		Search Ontology:
Synonyms:	PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Definition:	A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (3)
References:	GARD:9679 MESH:C536958 OMIM:605282 ORDO:363417 SNOMEDCT_US_2023_03_01:777998000 UMLS_CUI:C1854466
Ontology:	Human Disease ( DOID:0050814 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHSY1	chsy1	Temtamy preaxial brachydactyly syndrome	605282

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)