Human Phenotype Ontology 
Grandparent Node:
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Abnormal joint morphology (HP:0001367)help
Grandparent Node:
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Regional abnormality of skin (HP:0011356)help
Parent Node:
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Pterygium (HP:0001059)help
..Starting node
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Multiple pterygia (HP:0001040)help
Term ID: 1040
Name: Multiple pterygia
Synonym:
Definition:
Comments:
Reference: HP:0001040
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAntecubital pterygium (HP:0009760) help
..expandAxillary pterygium (HP:0001060) help
..expandIntercrural pterygium (HP:0009757) help
..expandNeck pterygia (HP:0009759) help
..expandPopliteal pterygium (HP:0009756) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001040HP:0001040Multiple pterygia0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0001040HP:0001040Multiple pterygia0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0001040HP:0001040Multiple pterygia0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent68
HP:0001040HP:0001040Multiple pterygia0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0001040HP:0001040Multiple pterygia0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent166
HP:0001040HP:0001040Multiple pterygia0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166


Genes (4) :CHRNA1 CHRND CHRNG MYH3

Diseases (3) :OMIM:253290 ORPHA:2990 OMIM:178110
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.