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General Information
ZIRC
OBO ID: DOID:0080110
Term Name: multiple pterygium syndrome Search Ontology:
Synonyms:
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:
Ontology: Human Disease   (DOID:0080110)
OTHER multiple pterygium syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNA1 Multiple pterygium syndrome, lethal type 253290
CHRND Multiple pterygium syndrome, lethal type 253290
CHRNG Multiple pterygium syndrome, lethal type 253290
Escobar syndrome 265000
MYH3 Contractures, pterygia, and variable skeletal fusions syndrome 1A 178110
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None