Human Phenotype Ontology 
Grandparent Node:
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Abnormal toenail morphology (HP:0008388)help
Grandparent Node:
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Aplasia/Hypoplasia of the nails (HP:0008386)help
Parent Node:
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Anonychia (HP:0001798)help
Parent Node:
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Aplastic/hypoplastic toenail (HP:0010624)help
..Starting node
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Absent toenail (HP:0001802)help
Term ID: 1802
Name: Absent toenail
Synonym: Absent toenail; Absent toenails; Absent toenails (anonychia); Anonychia of toenails
Definition: Congenital absence of the toenail.
Comments:
Reference: HP:0001802
Genes and Diseases:
 
       Child Nodes:
........expandAbsent nail of hallux (HP:0012555) help
........expandAbsent fifth toenail (HP:0200105) help

 Sister Nodes: 
..expandHypoplastic toenails (HP:0001800) 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:0001802HP:0001802Absent toenail0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0001802HP:0001802Absent toenail0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0001802HP:0001802Absent toenail0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040282 - Frequent5
HP:0001802HP:0001802Absent toenail0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0001802HP:0001802Absent toenail0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0001802HP:0001802Absent toenail0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0001802HP:0001802Absent toenail0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0001802HP:0001802Absent toenail0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040283 - Occasional263
HP:0001802HP:0001802Absent toenail0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0001802HP:0001802Absent toenail0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0001802HP:0001802Absent toenail0GPC4 CL E G H22394452OMIM:301026Keipert syndromeHP:0040284 - Very rare
HP:0001802HP:0001802Absent toenail0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0001802HP:0001802Absent toenail0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0001802HP:0001802Absent toenail0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0001802HP:0001802Absent toenail0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0001802HP:0001802Absent toenail0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0001802HP:0001802Absent toenail0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0001802HP:0001802Absent toenail0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0001802HP:0001802Absent toenail0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0001802HP:0001802Absent toenail0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001802HP:0001802Absent toenail0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001802HP:0001802Absent toenail0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly.13
HP:0001802HP:0200105Absent fifth toenail1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0001802HP:0012555Absent nail of hallux1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0001802HP:0012555Absent nail of hallux1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0001802HP:0200105Absent fifth toenail1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS


Genes (18) :APC ARID1A ATP6V1B2 BCR COL7A1 CRKL DSP GPC4 JUP KCNH1 KCNN3 KRT14 LRP4 MAPK1 NOTCH1 PIGF PORCN WNT7A

Diseases (18) :ORPHA:3258 OMIM:614607 ORPHA:79499 OMIM:124480 ORPHA:261330 ORPHA:231568 ORPHA:89842 ORPHA:158676 ORPHA:158687 OMIM:301026 OMIM:611816 ORPHA:420561 OMIM:618658 ORPHA:89838 OMIM:616028 OMIM:619356 OMIM:305600 OMIM:228930
 

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