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

OBO ID: DOID:0080110

Term Name:	contractures, pterygia, and spondylocarpotarsal fusion syndrome		Search Ontology:
Synonyms:	multiple pterygium syndrome
Definition:	A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (4)
References:	MESH:C537377 OMIM:253290 OMIM:265000 OMIM:312150 OMIM:PS178110
Ontology:	Human Disease ( DOID:0080110 )

Relationships

is a type of:	monogenic disease syndrome monogenic disease syndrome Show first 5 Terms
has subtype:	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRNA1	chrna1	Multiple pterygium syndrome, lethal type	253290
CHRND	chrnd	Multiple pterygium syndrome, lethal type	253290
CHRNG	chrng	Multiple pterygium syndrome, lethal type	253290
		Escobar syndrome	265000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None