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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Pterygium of nails (HP:0002165)help
Term ID: 2165
Name: Pterygium of nails
Synonym: Nail pterygium
Definition: Inward advance of skin over the nail plate.
Comments:
Reference: HP:0002165
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
..expandPyramidal skinfold extending from the base to the top of the nails (HP:0009758) 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:0002165HP:0002165Pterygium of nails0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0002165HP:0002165Pterygium of nails0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0002165HP:0002165Pterygium of nails0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0002165HP:0002165Pterygium of nails0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0002165HP:0002165Pterygium of nails0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0002165HP:0002165Pterygium of nails0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :DKC1 NHP2 NOP10

Diseases (2) :305000 224230
 

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