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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Abnormality of nail color (HP:0100643)help
Term ID: 100643
Name: Abnormality of nail color
Synonym: Abnormality of nail color; Abnormality of nail colour; Nail dyschromia
Definition: An anomaly of the color of the nail.
Comments:
Reference: HP:0100643
Genes and Diseases:
 
       Child Nodes:
........expandLeukonychia (HP:0001820) help
........expandYellow nails (HP:0011367) help
........expandMelanonychia (HP:0100644) help

 Sister Nodes: 
..expandAbnormal fingernail morphology (HP:0001231) help
..expandAbnormal nail growth (HP:0030807) help
..expandAbnormal toenail morphology (HP:0008388) 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
..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:0100643HP:0100643Abnormality of nail color0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0100643HP:0100643Abnormality of nail color0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0100643HP:0100643Abnormality of nail color0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0100643HP:0100643Abnormality of nail color0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0100643HP:0100643Abnormality of nail color0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0100643HP:0100643Abnormality of nail color0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0100643HP:0100643Abnormality of nail color0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0100643HP:0100643Abnormality of nail color0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0100643HP:0100643Abnormality of nail color0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0100643HP:0100643Abnormality of nail color0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0100643HP:0100643Abnormality of nail color0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0100643HP:0100643Abnormality of nail color0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0100643HP:0100643Abnormality of nail color0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndrome46
HP:0100643HP:0100643Abnormality of nail color0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0100643HP:0100643Abnormality of nail color0PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1169
HP:0100643HP:0100643Abnormality of nail color0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0100643HP:0100643Abnormality of nail color0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 298
HP:0100643HP:0100643Abnormality of nail color0PLCD1 CL E G H53339060OMIM:151600Nail disorder, nonsyndromic congenital, 35
HP:0100643HP:0100643Abnormality of nail color0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040283 - Occasional15
HP:0100643HP:0100643Abnormality of nail color0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0100643HP:0100643Abnormality of nail color0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0100643HP:0100643Abnormality of nail color0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I171
HP:0100643HP:0001820Leukonychia1ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4AHP:0040283 - Occasional130
HP:0100643HP:0001820Leukonychia1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040282 - Frequent86
HP:0100643HP:0011367Yellow nails1ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0100643HP:0001820Leukonychia1CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0100643HP:0001820Leukonychia1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0100643HP:0011367Yellow nails1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0100643HP:0001820Leukonychia1DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisHP:0040283 - Occasional747
HP:0100643HP:0011367Yellow nails1FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndromeHP:0040284 - Very rare20
HP:0100643HP:0001820Leukonychia1GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0100643HP:0001820Leukonychia1GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness.199
HP:0100643HP:0001820Leukonychia1GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeHP:0040281 - Very frequent199
HP:0100643HP:0001820Leukonychia1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0100643HP:0100644Melanonychia1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040282 - Frequent46
HP:0100643HP:0001820Leukonychia1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040282 - Frequent46
HP:0100643HP:0001820Leukonychia1PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1.169
HP:0100643HP:0001820Leukonychia1PEX6 CL E G H51908859OMIM:616617Heimler syndrome 2.98
HP:0100643HP:0001820Leukonychia1PLCD1 CL E G H53339060OMIM:151600Nail disorder, nonsyndromic congenital, 3.5
HP:0100643HP:0100644Melanonychia1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0100643HP:0001820Leukonychia1TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040282 - Frequent171
HP:0100643HP:0001820Leukonychia1TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171


Genes (18) :ABCA12 ATP2A2 ATR CAST DSC3 DSG1 DSP FOXC2 GJA1 GJB2 KANK2 KIF11 PEX1 PEX6 PLCD1 RNU4ATAC STK11 TRPS1

Diseases (21) :OMIM:601277 ORPHA:79151 OMIM:614564 OMIM:616295 OMIM:613102 OMIM:148700 OMIM:615821 OMIM:153400 OMIM:104100 OMIM:149200 ORPHA:2698 OMIM:616099 ORPHA:2526 ORPHA:3220 OMIM:234580 OMIM:616617 OMIM:151600 ORPHA:1824 ORPHA:2869 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.