Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormality of hair pigmentation (HP:0009887)help
..Starting node
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Hypopigmentation of hair (HP:0005599)help
Term ID: 5599
Name: Hypopigmentation of hair
Synonym: Hair hypopigmentation; Loss of hair color; Loss of hair colour
Definition:
Comments:
Reference: HP:0005599
Genes and Diseases:
 
       Child Nodes:
........expandAlbinism (HP:0001022) help
........expandGeneralized hypopigmentation of hair (HP:0011358) help
................... HP:0002218 Silver-gray hair
................... HP:0002286 Fair hair
................... HP:0011364 White hair
........expandPatchy hypopigmentation of hair (HP:0011365) help
................... HP:0002211 White forelock
................... HP:0002290 Poliosis

 Sister Nodes: 
..expandMelanin pigment aggregation in hair shafts (HP:0002220) help
..expandPremature graying of hair (HP:0002216) help
..expandRed hair (HP:0002297) help
..expandWhite eyebrow (HP:0002226) help
..expandWhite eyelashes (HP:0002227) 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:0005599HP:0005599Hypopigmentation of hair0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0005599HP:0005599Hypopigmentation of hair0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0005599HP:0005599Hypopigmentation of hair0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0005599HP:0005599Hypopigmentation of hair0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0005599HP:0005599Hypopigmentation of hair0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040282 - Frequent3267
HP:0005599HP:0005599Hypopigmentation of hair0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0005599HP:0005599Hypopigmentation of hair0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0005599HP:0005599Hypopigmentation of hair0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0005599HP:0005599Hypopigmentation of hair0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0005599HP:0005599Hypopigmentation of hair0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0005599HP:0005599Hypopigmentation of hair0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0005599HP:0005599Hypopigmentation of hair0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0005599HP:0005599Hypopigmentation of hair0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0005599HP:0005599Hypopigmentation of hair0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0005599HP:0005599Hypopigmentation of hair0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0005599HP:0005599Hypopigmentation of hair0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0005599HP:0005599Hypopigmentation of hair0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0005599HP:0005599Hypopigmentation of hair0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0005599HP:0005599Hypopigmentation of hair0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0005599HP:0005599Hypopigmentation of hair0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0005599HP:0005599Hypopigmentation of hair0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B67
HP:0005599HP:0005599Hypopigmentation of hair0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent67
HP:0005599HP:0005599Hypopigmentation of hair0EDNRB CL E G H19103180OMIM:600501Abcd syndrome55
HP:0005599HP:0005599Hypopigmentation of hair0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040281 - Very frequent55
HP:0005599HP:0005599Hypopigmentation of hair0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent55
HP:0005599HP:0005599Hypopigmentation of hair0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0005599HP:0005599Hypopigmentation of hair0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0005599HP:0005599Hypopigmentation of hair0FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada disease59
HP:0005599HP:0005599Hypopigmentation of hair0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040283 - Occasional145
HP:0005599HP:0005599Hypopigmentation of hair0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0005599HP:0005599Hypopigmentation of hair0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0005599HP:0005599Hypopigmentation of hair0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0005599HP:0005599Hypopigmentation of hair0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0005599HP:0005599Hypopigmentation of hair0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0005599HP:0005599Hypopigmentation of hair0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0005599HP:0005599Hypopigmentation of hair0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0005599HP:0005599Hypopigmentation of hair0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0005599HP:0005599Hypopigmentation of hair0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0005599HP:0005599Hypopigmentation of hair0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005599HP:0005599Hypopigmentation of hair0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0005599HP:0005599Hypopigmentation of hair0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0005599HP:0005599Hypopigmentation of hair0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0005599HP:0005599Hypopigmentation of hair0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0005599HP:0005599Hypopigmentation of hair0KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0005599HP:0005599Hypopigmentation of hair0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040281 - Very frequent327
HP:0005599HP:0005599Hypopigmentation of hair0KITLG CL E G H42546343OMIM:6199479
HP:0005599HP:0005599Hypopigmentation of hair0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040281 - Very frequent9
HP:0005599HP:0005599Hypopigmentation of hair0KRT25 CL E G H14718330839ORPHA:170Woolly hairHP:0040282 - Frequent2
HP:0005599HP:0005599Hypopigmentation of hair0KRT71 CL E G H11280228927ORPHA:170Woolly hairHP:0040282 - Frequent1
HP:0005599HP:0005599Hypopigmentation of hair0KRT74 CL E G H12139128929ORPHA:170Woolly hairHP:0040282 - Frequent5
HP:0005599HP:0005599Hypopigmentation of hair0LAMTOR2 CL E G H2895629796ORPHA:90023Primary immunodeficiency syndrome due to LAMTOR2 deficiencyHP:0040281 - Very frequent1
HP:0005599HP:0005599Hypopigmentation of hair0LIPH CL E G H20087918483ORPHA:170Woolly hairHP:0040282 - Frequent12
HP:0005599HP:0005599Hypopigmentation of hair0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0005599HP:0005599Hypopigmentation of hair0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 88
HP:0005599HP:0005599Hypopigmentation of hair0LPAR6 CL E G H1016115520ORPHA:170Woolly hairHP:0040282 - Frequent8
HP:0005599HP:0005599Hypopigmentation of hair0LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V13
HP:0005599HP:0005599Hypopigmentation of hair0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0005599HP:0005599Hypopigmentation of hair0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0005599HP:0005599Hypopigmentation of hair0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0005599HP:0005599Hypopigmentation of hair0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0005599HP:0005599Hypopigmentation of hair0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0005599HP:0005599Hypopigmentation of hair0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0005599HP:0005599Hypopigmentation of hair0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare63
HP:0005599HP:0005599Hypopigmentation of hair0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare63
HP:0005599HP:0005599Hypopigmentation of hair0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0005599HP:0005599Hypopigmentation of hair0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0005599HP:0005599Hypopigmentation of hair0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0005599HP:0005599Hypopigmentation of hair0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0005599HP:0005599Hypopigmentation of hair0MITF CL E G H42867105ORPHA:42665Tietz syndromeHP:0040281 - Very frequent91
HP:0005599HP:0005599Hypopigmentation of hair0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040281 - Very frequent91
HP:0005599HP:0005599Hypopigmentation of hair0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0005599HP:0005599Hypopigmentation of hair0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent91
HP:0005599HP:0005599Hypopigmentation of hair0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0005599HP:0005599Hypopigmentation of hair0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0005599HP:0005599Hypopigmentation of hair0MLPH CL E G H7908329643ORPHA:79478Griscelli syndrome type 3HP:0040281 - Very frequent7
HP:0005599HP:0005599Hypopigmentation of hair0MLPH CL E G H7908329643OMIM:609227Griscelli syndrome, type 37
HP:0005599HP:0005599Hypopigmentation of hair0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0005599HP:0005599Hypopigmentation of hair0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 135
HP:0005599HP:0005599Hypopigmentation of hair0MYO5A CL E G H46447602ORPHA:79478Griscelli syndrome type 3HP:0040281 - Very frequent35
HP:0005599HP:0005599Hypopigmentation of hair0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 135
HP:0005599HP:0005599Hypopigmentation of hair0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040281 - Very frequent35
HP:0005599HP:0005599Hypopigmentation of hair0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare
HP:0005599HP:0005599Hypopigmentation of hair0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare
HP:0005599HP:0005599Hypopigmentation of hair0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0005599HP:0005599Hypopigmentation of hair0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0005599HP:0005599Hypopigmentation of hair0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0005599HP:0005599Hypopigmentation of hair0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0005599HP:0005599Hypopigmentation of hair0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0005599HP:0005599Hypopigmentation of hair0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0005599HP:0005599Hypopigmentation of hair0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0005599HP:0005599Hypopigmentation of hair0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0005599HP:0005599Hypopigmentation of hair0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0005599HP:0005599Hypopigmentation of hair0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare121
HP:0005599HP:0005599Hypopigmentation of hair0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0005599HP:0005599Hypopigmentation of hair0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0005599HP:0005599Hypopigmentation of hair0PADI3 CL E G H5170218337ORPHA:1410Uncombable hair syndrome3
HP:0005599HP:0005599Hypopigmentation of hair0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040281 - Very frequent641
HP:0005599HP:0005599Hypopigmentation of hair0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0005599HP:0005599Hypopigmentation of hair0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0005599HP:0005599Hypopigmentation of hair0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0005599HP:0005599Hypopigmentation of hair0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 359
HP:0005599HP:0005599Hypopigmentation of hair0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0005599HP:0005599Hypopigmentation of hair0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0005599HP:0005599Hypopigmentation of hair0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance113
HP:0005599HP:0005599Hypopigmentation of hair0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0005599HP:0005599Hypopigmentation of hair0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0005599HP:0005599Hypopigmentation of hair0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0005599HP:0005599Hypopigmentation of hair0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0005599HP:0005599Hypopigmentation of hair0PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada disease3
HP:0005599HP:0005599Hypopigmentation of hair0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0005599HP:0005599Hypopigmentation of hair0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0005599HP:0005599Hypopigmentation of hair0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040281 - Very frequent67
HP:0005599HP:0005599Hypopigmentation of hair0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0005599HP:0005599Hypopigmentation of hair0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0005599HP:0005599Hypopigmentation of hair0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0005599HP:0005599Hypopigmentation of hair0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0005599HP:0005599Hypopigmentation of hair0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0005599HP:0005599Hypopigmentation of hair0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0005599HP:0005599Hypopigmentation of hair0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0005599HP:0005599Hypopigmentation of hair0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0005599HP:0005599Hypopigmentation of hair0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease78
HP:0005599HP:0005599Hypopigmentation of hair0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0005599HP:0005599Hypopigmentation of hair0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0005599HP:0005599Hypopigmentation of hair0SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0005599HP:0005599Hypopigmentation of hair0SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040281 - Very frequent19
HP:0005599HP:0005599Hypopigmentation of hair0SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 2HP:0040281 - Very frequent19
HP:0005599HP:0005599Hypopigmentation of hair0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0005599HP:0005599Hypopigmentation of hair0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0005599HP:0005599Hypopigmentation of hair0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0005599HP:0005599Hypopigmentation of hair0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0005599HP:0005599Hypopigmentation of hair0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare37
HP:0005599HP:0005599Hypopigmentation of hair0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare37
HP:0005599HP:0005599Hypopigmentation of hair0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0005599HP:0005599Hypopigmentation of hair0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0005599HP:0005599Hypopigmentation of hair0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0005599HP:0005599Hypopigmentation of hair0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0005599HP:0005599Hypopigmentation of hair0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040282 - Frequent61
HP:0005599HP:0005599Hypopigmentation of hair0SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 2HP:0040281 - Very frequent61
HP:0005599HP:0005599Hypopigmentation of hair0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0005599HP:0005599Hypopigmentation of hair0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C61
HP:0005599HP:0005599Hypopigmentation of hair0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent61
HP:0005599HP:0005599Hypopigmentation of hair0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0005599HP:0005599Hypopigmentation of hair0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0005599HP:0005599Hypopigmentation of hair0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0005599HP:0005599Hypopigmentation of hair0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0005599HP:0005599Hypopigmentation of hair0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0005599HP:0005599Hypopigmentation of hair0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0005599HP:0005599Hypopigmentation of hair0TGM3 CL E G H705311779ORPHA:1410Uncombable hair syndrome1
HP:0005599HP:0005599Hypopigmentation of hair0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0005599HP:0005599Hypopigmentation of hair0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0005599HP:0005599Hypopigmentation of hair0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0005599HP:0005599Hypopigmentation of hair0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0005599HP:0005599Hypopigmentation of hair0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0005599HP:0005599Hypopigmentation of hair0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0005599HP:0005599Hypopigmentation of hair0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0005599HP:0005599Hypopigmentation of hair0TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0005599HP:0005599Hypopigmentation of hair0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0005599HP:0005599Hypopigmentation of hair0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0005599HP:0005599Hypopigmentation of hair0TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2HP:0040281 - Very frequent146
HP:0005599HP:0005599Hypopigmentation of hair0TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III62
HP:0005599HP:0005599Hypopigmentation of hair0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 362
HP:0005599HP:0005599Hypopigmentation of hair0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0005599HP:0005599Hypopigmentation of hair0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0005599HP:0005599Hypopigmentation of hair0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0005599HP:0005599Hypopigmentation of hair0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0005599HP:0005599Hypopigmentation of hair0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0005599HP:0005599Hypopigmentation of hair0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0005599HP:0005599Hypopigmentation of hair0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0005599HP:0005599Hypopigmentation of hair0WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V51
HP:0005599HP:0005599Hypopigmentation of hair0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0005599HP:0005599Hypopigmentation of hair0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0005599HP:0005599Hypopigmentation of hair0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0005599HP:0011358Generalized hypopigmentation of hair1ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0005599HP:0011358Generalized hypopigmentation of hair1ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent11
HP:0005599HP:0001022Albinism1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0005599HP:0011358Generalized hypopigmentation of hair1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0005599HP:0001022Albinism1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0005599HP:0001022Albinism1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0005599HP:0011358Generalized hypopigmentation of hair1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0005599HP:0001022Albinism1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0005599HP:0001022Albinism1CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0005599HP:0011365Patchy hypopigmentation of hair1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0005599HP:0011358Generalized hypopigmentation of hair1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0005599HP:0011358Generalized hypopigmentation of hair1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0005599HP:0011358Generalized hypopigmentation of hair1DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent65
HP:0005599HP:0011358Generalized hypopigmentation of hair1DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0005599HP:0001022Albinism1DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 7.46
HP:0005599HP:0011365Patchy hypopigmentation of hair1EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B67
HP:0005599HP:0011365Patchy hypopigmentation of hair1EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndrome67
HP:0005599HP:0001022Albinism1EDNRB CL E G H19103180OMIM:600501Abcd syndrome.55
HP:0005599HP:0011365Patchy hypopigmentation of hair1EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 255
HP:0005599HP:0011365Patchy hypopigmentation of hair1EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0005599HP:0011365Patchy hypopigmentation of hair1EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndrome55
HP:0005599HP:0001022Albinism1EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0005599HP:0011365Patchy hypopigmentation of hair1FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada disease59
HP:0005599HP:0011358Generalized hypopigmentation of hair1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0005599HP:0001022Albinism1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0005599HP:0001022Albinism1HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0005599HP:0001022Albinism1HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0005599HP:0001022Albinism1HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0005599HP:0001022Albinism1HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0005599HP:0011365Patchy hypopigmentation of hair1HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0005599HP:0011358Generalized hypopigmentation of hair1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005599HP:0011358Generalized hypopigmentation of hair1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0005599HP:0011358Generalized hypopigmentation of hair1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0005599HP:0011358Generalized hypopigmentation of hair1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0005599HP:0011365Patchy hypopigmentation of hair1KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0005599HP:0011365Patchy hypopigmentation of hair1KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0005599HP:0011365Patchy hypopigmentation of hair1KITLG CL E G H42546343OMIM:6199479
HP:0005599HP:0011358Generalized hypopigmentation of hair1KITLG CL E G H42546343OMIM:6199479
HP:0005599HP:0011365Patchy hypopigmentation of hair1KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 29
HP:0005599HP:0011365Patchy hypopigmentation of hair1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0005599HP:0011358Generalized hypopigmentation of hair1LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 88
HP:0005599HP:0001022Albinism1LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V.13
HP:0005599HP:0011358Generalized hypopigmentation of hair1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0005599HP:0011365Patchy hypopigmentation of hair1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0005599HP:0001022Albinism1MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0005599HP:0011358Generalized hypopigmentation of hair1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0005599HP:0011365Patchy hypopigmentation of hair1MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 291
HP:0005599HP:0011365Patchy hypopigmentation of hair1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0005599HP:0001022Albinism1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.HP:0003577 - Congenital onset91
HP:0005599HP:0011365Patchy hypopigmentation of hair1MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndrome91
HP:0005599HP:0011358Generalized hypopigmentation of hair1MLPH CL E G H7908329643OMIM:609227Griscelli syndrome, type 37
HP:0005599HP:0011358Generalized hypopigmentation of hair1MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0005599HP:0011358Generalized hypopigmentation of hair1MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 135
HP:0005599HP:0011358Generalized hypopigmentation of hair1MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 135
HP:0005599HP:0011358Generalized hypopigmentation of hair1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0005599HP:0011358Generalized hypopigmentation of hair1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0005599HP:0011358Generalized hypopigmentation of hair1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0005599HP:0001022Albinism1OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0005599HP:0011358Generalized hypopigmentation of hair1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0005599HP:0011358Generalized hypopigmentation of hair1PADI3 CL E G H5170218337ORPHA:1410Uncombable hair syndrome3
HP:0005599HP:0011358Generalized hypopigmentation of hair1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0005599HP:0011358Generalized hypopigmentation of hair1PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent26
HP:0005599HP:0011358Generalized hypopigmentation of hair1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0005599HP:0011365Patchy hypopigmentation of hair1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0005599HP:0011358Generalized hypopigmentation of hair1PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 359
HP:0005599HP:0011365Patchy hypopigmentation of hair1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0005599HP:0011365Patchy hypopigmentation of hair1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0005599HP:0011358Generalized hypopigmentation of hair1PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance113
HP:0005599HP:0011358Generalized hypopigmentation of hair1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0005599HP:0011365Patchy hypopigmentation of hair1PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0005599HP:0011358Generalized hypopigmentation of hair1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0005599HP:0011358Generalized hypopigmentation of hair1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0005599HP:0011365Patchy hypopigmentation of hair1PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada disease3
HP:0005599HP:0011358Generalized hypopigmentation of hair1RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0005599HP:0011358Generalized hypopigmentation of hair1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0005599HP:0011358Generalized hypopigmentation of hair1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0005599HP:0011358Generalized hypopigmentation of hair1RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent77
HP:0005599HP:0011365Patchy hypopigmentation of hair1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0005599HP:0011358Generalized hypopigmentation of hair1SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease78
HP:0005599HP:0001022Albinism1SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0005599HP:0011358Generalized hypopigmentation of hair1SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0005599HP:0001022Albinism1SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0005599HP:0011365Patchy hypopigmentation of hair1SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0005599HP:0011365Patchy hypopigmentation of hair1SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0005599HP:0011365Patchy hypopigmentation of hair1SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 219
HP:0005599HP:0011358Generalized hypopigmentation of hair1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0005599HP:0011365Patchy hypopigmentation of hair1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0005599HP:0011365Patchy hypopigmentation of hair1SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 261
HP:0005599HP:0011365Patchy hypopigmentation of hair1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0005599HP:0011365Patchy hypopigmentation of hair1SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C61
HP:0005599HP:0011365Patchy hypopigmentation of hair1SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndrome61
HP:0005599HP:0011358Generalized hypopigmentation of hair1TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0005599HP:0011358Generalized hypopigmentation of hair1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0005599HP:0011358Generalized hypopigmentation of hair1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0005599HP:0011365Patchy hypopigmentation of hair1TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0005599HP:0011358Generalized hypopigmentation of hair1TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent238
HP:0005599HP:0011365Patchy hypopigmentation of hair1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0005599HP:0011358Generalized hypopigmentation of hair1TGM3 CL E G H705311779ORPHA:1410Uncombable hair syndrome1
HP:0005599HP:0011358Generalized hypopigmentation of hair1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0005599HP:0011358Generalized hypopigmentation of hair1TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent60
HP:0005599HP:0011365Patchy hypopigmentation of hair1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0005599HP:0011358Generalized hypopigmentation of hair1TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0005599HP:0011358Generalized hypopigmentation of hair1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0005599HP:0011358Generalized hypopigmentation of hair1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0005599HP:0011358Generalized hypopigmentation of hair1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0005599HP:0001022Albinism1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0005599HP:0001022Albinism1TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0005599HP:0001022Albinism1TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0005599HP:0001022Albinism1TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0005599HP:0011365Patchy hypopigmentation of hair1TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2146
HP:0005599HP:0001022Albinism1TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III.62
HP:0005599HP:0011358Generalized hypopigmentation of hair1TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040282 - Frequent62
HP:0005599HP:0011358Generalized hypopigmentation of hair1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0005599HP:0011358Generalized hypopigmentation of hair1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0005599HP:0011358Generalized hypopigmentation of hair1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0005599HP:0001022Albinism1WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V.51
HP:0005599HP:0011358Generalized hypopigmentation of hair1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0005599HP:0011365Patchy hypopigmentation of hair1WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0005599HP:0002286Fair hair2ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0005599HP:0002286Fair hair2AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0005599HP:0002286Fair hair2BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0005599HP:0011364White hair2CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0005599HP:0011364White hair2DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0005599HP:0002218Silver-gray hair2DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 23HP:0040283 - Occasional13
HP:0005599HP:0002211White forelock2EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0005599HP:0002211White forelock2EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent67
HP:0005599HP:0002211White forelock2EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent55
HP:0005599HP:0002211White forelock2EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0005599HP:0002211White forelock2EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent55
HP:0005599HP:0002290Poliosis2FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040281 - Very frequent59
HP:0005599HP:0011364White hair2GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0005599HP:0002286Fair hair2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005599HP:0002286Fair hair2KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0005599HP:0002286Fair hair2KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0005599HP:0002286Fair hair2KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0005599HP:0002211White forelock2KIT CL E G H38156342OMIM:172800Piebald trait.327
HP:0005599HP:0002211White forelock2KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040281 - Very frequent327
HP:0005599HP:0011364White hair2KITLG CL E G H42546343OMIM:6199479
HP:0005599HP:0002211White forelock2KITLG CL E G H42546343OMIM:6199479
HP:0005599HP:0002211White forelock2KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent9
HP:0005599HP:0002211White forelock2LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0005599HP:0002286Fair hair2LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8.8
HP:0005599HP:0002218Silver-gray hair2LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0005599HP:0011364White hair2MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0005599HP:0002211White forelock2MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent91
HP:0005599HP:0002211White forelock2MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0005599HP:0002211White forelock2MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent91
HP:0005599HP:0002218Silver-gray hair2MLPH CL E G H7908329643OMIM:609227Griscelli syndrome, type 3.7
HP:0005599HP:0002286Fair hair2MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0005599HP:0011364White hair2MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040281 - Very frequent35
HP:0005599HP:0002218Silver-gray hair2MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 1.35
HP:0005599HP:0011364White hair2NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0005599HP:0011364White hair2NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0005599HP:0011364White hair2NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0005599HP:0011364White hair2OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0005599HP:0011364White hair2PADI3 CL E G H5170218337ORPHA:1410Uncombable hair syndromeHP:0040281 - Very frequent3
HP:0005599HP:0011364White hair2PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0005599HP:0011364White hair2PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0005599HP:0002211White forelock2PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0005599HP:0011364White hair2PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040282 - Frequent59
HP:0005599HP:0002211White forelock2PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0005599HP:0002211White forelock2PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0005599HP:0002286Fair hair2PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0005599HP:0002286Fair hair2PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040283 - Occasional113
HP:0005599HP:0002211White forelock2PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0005599HP:0002286Fair hair2PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0005599HP:0002286Fair hair2PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040283 - Occasional134
HP:0005599HP:0002290Poliosis2PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040281 - Very frequent3
HP:0005599HP:0002218Silver-gray hair2RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0005599HP:0002286Fair hair2RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0005599HP:0011364White hair2RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0005599HP:0002286Fair hair2SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0005599HP:0011364White hair2SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0005599HP:0002211White forelock2SNAI2 CL E G H659111094OMIM:172800Piebald trait.19
HP:0005599HP:0002211White forelock2SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040281 - Very frequent19
HP:0005599HP:0002211White forelock2SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent19
HP:0005599HP:0002286Fair hair2SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0005599HP:0002211White forelock2SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0005599HP:0002211White forelock2SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent61
HP:0005599HP:0002211White forelock2SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0005599HP:0002211White forelock2SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0005599HP:0002211White forelock2SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent61
HP:0005599HP:0002286Fair hair2TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0005599HP:0011364White hair2TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0005599HP:0011364White hair2TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0005599HP:0002211White forelock2TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0005599HP:0002211White forelock2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0005599HP:0011364White hair2TGM3 CL E G H705311779ORPHA:1410Uncombable hair syndromeHP:0040281 - Very frequent1
HP:0005599HP:0011364White hair2TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0005599HP:0002290Poliosis2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0005599HP:0002286Fair hair2TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0005599HP:0002286Fair hair2TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0005599HP:0011364White hair2TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0005599HP:0011364White hair2TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0005599HP:0002211White forelock2TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent146
HP:0005599HP:0002286Fair hair2UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0005599HP:0002286Fair hair2UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0005599HP:0011364White hair2USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0005599HP:0011364White hair2WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0005599HP:0002211White forelock2WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310


Genes (106) :ABCA2 ACD AP3B1 AP3D1 ATM ATP10A ATP7A BLOC1S3 BLOC1S5 CACNA1F CHN1 CLCN7 CTC1 CTNS DCT DHCR7 DKC1 DSTYK DTNBP1 EDN3 EDNRB EPG5 FAS FGFR3 GJB6 GNPTAB HERC2 HPS1 HPS3 HPS4 HPS5 HPS6 HRAS IFT140 IPW KANSL1 KIT KITLG KRT25 KRT71 KRT74 LAMTOR2 LIPH LMNA LPAR6 LRMDA LRPPRC LYST MAFB MAGEL2 MC1R MITF MKRN3 MKRN3-AS1 MLPH MOGS MYO5A NDN NHP2 NOP10 NPAP1 NPM1 OCA2 PADI3 PAH PARN PAX3 PDE4D PEPD PIGN PRKAR1A PTPN22 PWAR1 PWRN1 RAB27A RMRP RTEL1 SALL4 SIM1 SKIC2 SKIC3 SLC17A5 SLC45A2 SNAI2 SNORD115-1 SNORD116-1 SNRPN SOX10 TAFAZZIN TERC TERT TFAP2A TGM3 TINF2 TMCO1 TP63 TYMS TYR TYRP1 UBE3A UBR1 USB1 WDR45 WRAP53 WRN ZNF699

Diseases (107) :OMIM:618808 ORPHA:3322 OMIM:608233 OMIM:617050 ORPHA:100 ORPHA:411515 ORPHA:565 OMIM:614077 OMIM:619172 OMIM:300600 ORPHA:233 OMIM:618541 ORPHA:1775 OMIM:219800 OMIM:619165 ORPHA:818 ORPHA:101003 OMIM:614076 OMIM:613265 ORPHA:897 OMIM:600501 ORPHA:895 OMIM:277580 OMIM:242840 ORPHA:3437 ORPHA:53271 ORPHA:189 ORPHA:576 OMIM:176270 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 ORPHA:79414 OMIM:266920 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:172800 ORPHA:2884 OMIM:619947 ORPHA:170 ORPHA:90023 ORPHA:79474 OMIM:278150 OMIM:615179 ORPHA:70472 ORPHA:167 OMIM:214500 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:203200 ORPHA:79432 ORPHA:42665 OMIM:193510 ORPHA:79478 OMIM:609227 ORPHA:79330 ORPHA:79476 OMIM:214450 ORPHA:33445 ORPHA:98794 ORPHA:1410 ORPHA:79254 ORPHA:894 ORPHA:896 OMIM:193500 OMIM:148820 OMIM:614613 ORPHA:280651 ORPHA:742 ORPHA:280633 ORPHA:79477 OMIM:607624 OMIM:250250 ORPHA:398079 ORPHA:84064 OMIM:269920 OMIM:606574 ORPHA:79435 OMIM:105830 ORPHA:177907 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:613266 OMIM:302060 OMIM:613989 OMIM:113620 OMIM:213980 OMIM:103285 OMIM:604292 OMIM:203100 OMIM:606952 ORPHA:79431 ORPHA:79434 OMIM:203290 ORPHA:79433 ORPHA:411511 ORPHA:98795 OMIM:243800 ORPHA:902 OMIM:619488
 

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