ZFIN Human Disease: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

OBO ID: DOID:0081322

Term Name:	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B		Search Ontology:
Synonyms:	Autosomal recessive multiple pterygium syndrome
Definition:	A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/29805041/
References:	GARD:7111 OMIM:618469 ORDO:2990
Ontology:	Human Disease ( DOID:0081322 )

Relationships

is a type of:	autosomal recessive disease contractures, pterygia, and spondylocarpotarsal fusion syndrome autosomal recessive disease contractures, pterygia, and spondylocarpotarsal fusion syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MYH3		Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None