Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Abnormality of nail color (HP:0100643)help
..Starting node
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Leukonychia (HP:0001820)help
Term ID: 1820
Name: Leukonychia
Synonym: White discoloration of nails
Definition: White discoloration of the nails.
Comments:
Reference: HP:0001820
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMelanonychia (HP:0100644) help
..expandYellow nails (HP:0011367) 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:0001820HP:0001820Leukonychia0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4AHP:0040283 - Occasional130
HP:0001820HP:0001820Leukonychia0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040282 - Frequent86
HP:0001820HP:0001820Leukonychia0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0001820HP:0001820Leukonychia0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0001820HP:0001820Leukonychia0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisHP:0040283 - Occasional747
HP:0001820HP:0001820Leukonychia0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0001820HP:0001820Leukonychia0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness.199
HP:0001820HP:0001820Leukonychia0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeHP:0040281 - Very frequent199
HP:0001820HP:0001820Leukonychia0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0001820HP:0001820Leukonychia0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040282 - Frequent46
HP:0001820HP:0001820Leukonychia0PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1.169
HP:0001820HP:0001820Leukonychia0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 2.98
HP:0001820HP:0001820Leukonychia0PLCD1 CL E G H53339060OMIM:151600Nail disorder, nonsyndromic congenital, 3.5
HP:0001820HP:0001820Leukonychia0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040282 - Frequent171
HP:0001820HP:0001820Leukonychia0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171


Genes (13) :ABCA12 ATP2A2 CAST DSC3 DSP GJA1 GJB2 KANK2 KIF11 PEX1 PEX6 PLCD1 TRPS1

Diseases (15) :OMIM:601277 ORPHA:79151 OMIM:616295 OMIM:613102 OMIM:615821 OMIM:104100 OMIM:149200 ORPHA:2698 OMIM:616099 ORPHA:2526 OMIM:234580 OMIM:616617 OMIM:151600 ORPHA:77258 OMIM:190350
 

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