Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
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Abnormality of the nail (HP:0001597)help
..Starting node
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Pyramidal skinfold extending from the base to the top of the nails (HP:0009758)help
Term ID: 9758
Name: Pyramidal skinfold extending from the base to the top of the nails
Synonym:
Definition: Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.
Comments:
Reference: HP:0009758
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal fingernail morphology (HP:0001231) help
..expandAbnormal nail growth (HP:0030807) help
..expandAbnormal toenail morphology (HP:0008388) help
..expandAbnormality of nail color (HP:0100643) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandAbnormality of the subungual region (HP:0009723) help
..expandAbsent lunula (HP:0030805) help
..expandAplasia/Hypoplasia of the nails (HP:0008386) help
..expandBeaked nails (HP:0030817) help
..expandChronic monilial nail infection (HP:0008396) help
..expandFragile nails (HP:0001808) help
..expandIngrown nail (HP:0012710) help
..expandNail bed hemorrhage (HP:0030254) help
..expandNail bed telangiectasia (HP:0001232) help
..expandNail dysplasia (HP:0002164) help
..expandNail dystrophy (HP:0008404) help
..expandNeoplasm of the nail (HP:0100826) help
..expandOnychogryposis (HP:0001805) help
..expandOnycholysis (HP:0001806) help
..expandPterygium of nails (HP:0002165) help
..expandRagged cuticle (HP:0030808) help
..expandRecurrent loss of toenails and fingernails (HP:0008390) help
..expandSki jump nail (HP:0030819) help
..expandThin nail (HP:0001816) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009758HP:0009758Pyramidal skinfold extending from the base to the top of the nails0IRF6 CL E G H3664119500Popliteal pterygium syndrome119500C0265259OMIM12666121607199
HP:0009758HP:0009758Pyramidal skinfold extending from the base to the top of the nails0IRF6 CL E G H3664119500Popliteal pterygium syndrome119500C0265259OMIM12496121607199
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :IRF6

Diseases (1) :119500
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.