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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100643HP:0100643Abnormality of nail color0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12234288604418
HP:0100643HP:0100643Abnormality of nail color0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12144288604418
HP:0100643HP:0100643Abnormality of nail color0KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1686423148067
HP:0100643HP:0100643Abnormality of nail color0KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1656423148067
HP:0100643HP:0100643Abnormality of nail color0KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1596427148069
HP:0100643HP:0100643Abnormality of nail color0KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1546427148069
HP:0100643HP:0100643Abnormality of nail color0KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1786443148041
HP:0100643HP:0100643Abnormality of nail color0KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1776443148041
HP:0100643HP:0100643Abnormality of nail color0KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1396444148042
HP:0100643HP:0100643Abnormality of nail color0KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1386444148042
HP:0100643HP:0100643Abnormality of nail color0PEX1 CL E G H51893220ORPHA19518850602136
HP:0100643HP:0100643Abnormality of nail color0PEX1 CL E G H51893220ORPHA17938850602136
HP:0100643HP:0100643Abnormality of nail color0PEX6 CL E G H51903220ORPHA18558859601498
HP:0100643HP:0100643Abnormality of nail color0PEX6 CL E G H51903220ORPHA16458859601498
HP:0100643HP:0011367Yellow nails1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12144288604418
HP:0100643HP:0001820Leukonychia1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12144288604418
HP:0100643HP:0100644Melanonychia1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12234288604418
HP:0100643HP:0100644Melanonychia1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12144288604418
HP:0100643HP:0001820Leukonychia1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12234288604418
HP:0100643HP:0011367Yellow nails1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12234288604418
HP:0100643HP:0011367Yellow nails1KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1656423148067
HP:0100643HP:0001820Leukonychia1KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1656423148067
HP:0100643HP:0100644Melanonychia1KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1686423148067
HP:0100643HP:0100644Melanonychia1KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1656423148067
HP:0100643HP:0011367Yellow nails1KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1686423148067
HP:0100643HP:0001820Leukonychia1KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1686423148067
HP:0100643HP:0001820Leukonychia1KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1546427148069
HP:0100643HP:0011367Yellow nails1KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1546427148069
HP:0100643HP:0100644Melanonychia1KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1596427148069
HP:0100643HP:0100644Melanonychia1KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1546427148069
HP:0100643HP:0001820Leukonychia1KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1596427148069
HP:0100643HP:0011367Yellow nails1KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1596427148069
HP:0100643HP:0001820Leukonychia1KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1776443148041
HP:0100643HP:0011367Yellow nails1KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1776443148041
HP:0100643HP:0100644Melanonychia1KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1786443148041
HP:0100643HP:0100644Melanonychia1KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1776443148041
HP:0100643HP:0001820Leukonychia1KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1786443148041
HP:0100643HP:0011367Yellow nails1KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1786443148041
HP:0100643HP:0001820Leukonychia1KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1386444148042
HP:0100643HP:0011367Yellow nails1KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1386444148042
HP:0100643HP:0100644Melanonychia1KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1396444148042
HP:0100643HP:0100644Melanonychia1KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1386444148042
HP:0100643HP:0001820Leukonychia1KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1396444148042
HP:0100643HP:0011367Yellow nails1KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1396444148042
HP:0100643HP:0001820Leukonychia1PEX1 CL E G H51893220ORPHA17938850602136
HP:0100643HP:0011367Yellow nails1PEX1 CL E G H51893220ORPHA17938850602136
HP:0100643HP:0100644Melanonychia1PEX1 CL E G H51893220ORPHA19518850602136
HP:0100643HP:0100644Melanonychia1PEX1 CL E G H51893220ORPHA17938850602136
HP:0100643HP:0001820Leukonychia1PEX1 CL E G H51893220ORPHA19518850602136
HP:0100643HP:0011367Yellow nails1PEX1 CL E G H51893220ORPHA19518850602136
HP:0100643HP:0011367Yellow nails1PEX6 CL E G H51903220ORPHA16458859601498
HP:0100643HP:0001820Leukonychia1PEX6 CL E G H51903220ORPHA16458859601498
HP:0100643HP:0100644Melanonychia1PEX6 CL E G H51903220ORPHA18558859601498
HP:0100643HP:0100644Melanonychia1PEX6 CL E G H51903220ORPHA16458859601498
HP:0100643HP:0001820Leukonychia1PEX6 CL E G H51903220ORPHA18558859601498
HP:0100643HP:0011367Yellow nails1PEX6 CL E G H51903220ORPHA18558859601498
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100643HP:0100643Abnormality of nail color0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA020134016601428
HP:0100643HP:0100643Abnormality of nail color0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA07634016601428
HP:0100643HP:0001820Leukonychia1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA07634016601428
HP:0100643HP:0011367Yellow nails1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA07634016601428
HP:0100643HP:0100644Melanonychia1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA020134016601428
HP:0100643HP:0100644Melanonychia1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA07634016601428
HP:0100643HP:0001820Leukonychia1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA020134016601428
HP:0100643HP:0011367Yellow nails1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA020134016601428


Genes (17) :ABCA12 CAST DSP GJA1 GJB2 GJB6 KIF11 KRT16 KRT17 KRT6A KRT6B PEX1 PEX6 PLCD1 RNU4ATAC STK11 TRPS1

Diseases (17) :189 2309 3220 1824 601277 616295 615821 104100 2698 149200 2526 234580 616617 151600 2869 77258 190350
 

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