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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Onychogryposis (HP:0001805)help
Term ID: 1805
Name: Onychogryposis
Synonym: Dystrophic thickened nails; Thick nail; Thickened nails
Definition: Nail that appears thick when viewed on end.
Comments:
Reference: HP:0001805
Genes and Diseases:
 
       Child Nodes:
........expandOnychogryposis of toenails (HP:0008401) help
........expandOnychauxis (HP:0012542) help
........expandOnychogryposis of fingernail (HP:0040036) help

 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
..expandOnycholysis (HP:0001806) help
..expandPterygium of nails (HP:0002165) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001805HP:0001805Onychogryposis0ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0001805HP:0001805Onychogryposis0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent2
HP:0001805HP:0001805Onychogryposis0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040281 - Very frequent263
HP:0001805HP:0001805Onychogryposis0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0001805HP:0001805Onychogryposis0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0001805HP:0001805Onychogryposis0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0001805HP:0001805Onychogryposis0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent257
HP:0001805HP:0001805Onychogryposis0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0001805HP:0001805Onychogryposis0FZD6 CL E G H83234044OMIM:161050Nail disorder, nonsyndromic congenital, 1HP:0040283 - Occasional3
HP:0001805HP:0001805Onychogryposis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001805HP:0001805Onychogryposis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001805HP:0001805Onychogryposis0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0001805HP:0001805Onychogryposis0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0001805HP:0001805Onychogryposis0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities229
HP:0001805HP:0001805Onychogryposis0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0001805HP:0001805Onychogryposis0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0001805HP:0001805Onychogryposis0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0001805HP:0001805Onychogryposis0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0001805HP:0001805Onychogryposis0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0001805HP:0001805Onychogryposis0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 1.27
HP:0001805HP:0001805Onychogryposis0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0001805HP:0001805Onychogryposis0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0001805HP:0001805Onychogryposis0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173
HP:0001805HP:0001805Onychogryposis0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0001805HP:0001805Onychogryposis0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0001805HP:0001805Onychogryposis0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0001805HP:0001805Onychogryposis0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0001805HP:0001805Onychogryposis0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosisHP:0040283 - Occasional
HP:0001805HP:0001805Onychogryposis0PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type759
HP:0001805HP:0001805Onychogryposis0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0001805HP:0001805Onychogryposis0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0001805HP:0001805Onychogryposis0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0001805HP:0001805Onychogryposis0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0001805HP:0008401Onychogryposis of toenails1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0001805HP:0040036Onychogryposis of fingernail1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0001805HP:0040036Onychogryposis of fingernail1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0001805HP:0040036Onychogryposis of fingernail1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0001805HP:0040036Onychogryposis of fingernail1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0001805HP:0012542Onychauxis1INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0001805HP:0012542Onychauxis1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0001805HP:0008401Onychogryposis of toenails1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0001805HP:0008401Onychogryposis of toenails1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent27
HP:0001805HP:0040036Onychogryposis of fingernail1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent27
HP:0001805HP:0040036Onychogryposis of fingernail1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent23
HP:0001805HP:0008401Onychogryposis of toenails1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent23
HP:0001805HP:0008401Onychogryposis of toenails1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent41
HP:0001805HP:0040036Onychogryposis of fingernail1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent41
HP:0001805HP:0008401Onychogryposis of toenails1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0001805HP:0040036Onychogryposis of fingernail1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent4
HP:0001805HP:0008401Onychogryposis of toenails1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent4
HP:0001805HP:0008401Onychogryposis of toenails1PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type.759
HP:0001805HP:0040036Onychogryposis of fingernail1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98


Genes (28) :ADAM17 COL7A1 CTSC DVL1 DVL3 EGFR FZD2 FZD6 GJB2 GJB6 HPGD IKBKG INSR ITGB4 KLHL24 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LMNA LORICRIN PLEC TP63 WDR19 WNT5A ZSWIM6

Diseases (24) :OMIM:614328 ORPHA:294023 ORPHA:158676 OMIM:245010 ORPHA:3107 OMIM:161050 ORPHA:477 ORPHA:217059 OMIM:308300 OMIM:262190 ORPHA:769 OMIM:619816 OMIM:617294 ORPHA:79396 ORPHA:2309 OMIM:167200 OMIM:131960 OMIM:615726 OMIM:248370 ORPHA:79395 OMIM:131950 OMIM:129400 OMIM:614378 OMIM:603671
 

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