Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Abnormality of skin pigmentation (HP:0001000)help
..Starting node
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Hypopigmentation of the skin (HP:0001010)help
Term ID: 1010
Name: Hypopigmentation of the skin
Synonym: Hypopigmentation; Hypopigmented skin; Patchy lightened skin; Skin hypopigmentation
Definition: A reduction of skin color related to a decrease in melanin production and deposition.
Comments:
Reference: HP:0001010
Genes and Diseases:
 
       Child Nodes:
........expandHypopigmented skin patches (HP:0001053) help
................... HP:0005590 Spotty hypopigmentation
................... HP:0005593 Macular hypopigmented whorls, streaks, and patches
................... HP:0007526 Hypopigmented skin patches on arms
........expandPartial albinism (HP:0007443) help
........expandGeneralized hypopigmentation (HP:0007513) help
................... HP:0001022 Albinism
........expandHypopigmented streaks (HP:0007535) help
................... HP:0007581 Mediosternal, longitudinal streak of hypopigmentation
........expandPiebaldism (HP:0007544) help
........expandConfetti hypopigmentation pattern of lower leg skin (HP:0007554) help
........expandMixed hypo- and hyperpigmentation of the skin (HP:0009123) help
................... HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
................... HP:0007441 Hyperpigmented/hypopigmented macules
................... HP:0007450 Increased groin pigmentation with raindrop depigmentation
................... HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation
................... HP:0007509 Patchy hypo- and hyperpigmentation
........expandHypomelanotic macule (HP:0009719) help
................... HP:0007449 Confetti-like hypopigmented macules
................... HP:0030679 Ash-leaf spot
........expandAbsent skin pigmentation (HP:0200098) help
................... HP:0012319 Absent pigmentation of the abdomen
................... HP:0012320 Absent pigmentation of the limbs
................... HP:0040007 Absent pigmentation of chest

 Sister Nodes: 
..expandAbnormality of dermal melanosomes (HP:0011125) help
..expandBlotching pigmentation of the skin (HP:0007610) help
..expandDepigmentation/hyperpigmentation of skin (HP:0007483) help
..expandFine, reticulate skin pigmentation (HP:0007617) help
..expandFreckling (HP:0001480) help
..expandHyperpigmentation of the skin (HP:0000953) help
..expandMelanocytic nevus (HP:0000995) help
..expandMottled pigmentation (HP:0001070) help
..expandNumerous pigmented freckles (HP:0007587) help
..expandPerioral hyperpigmentation (HP:0010802) help
..expandPeriorbital hyperpigmentation (HP:0001106) help
..expandPigmentation anomalies of sun-exposed skin (HP:0007623) help
..expandProfuse pigmented skin lesions (HP:0005587) help
..expandReticulated skin pigmentation (HP:0007427) help
..expandSymmetric great toe depigmentation (HP:0200015) help
..expandVitiligo (HP:0001045) 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:0001010HP:0001010Hypopigmentation of the skin0ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditaria20
HP:0001010HP:0001010Hypopigmentation of the skin0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001010HP:0001010Hypopigmentation of the skin0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001010HP:0001010Hypopigmentation of the skin0ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1116
HP:0001010HP:0001010Hypopigmentation of the skin0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 192
HP:0001010HP:0001010Hypopigmentation of the skin0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0001010HP:0001010Hypopigmentation of the skin0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0001010HP:0001010Hypopigmentation of the skin0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0001010HP:0001010Hypopigmentation of the skin0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0001010HP:0001010Hypopigmentation of the skin0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001010HP:0001010Hypopigmentation of the skin0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001010HP:0001010Hypopigmentation of the skin0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0001010HP:0001010Hypopigmentation of the skin0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040283 - Occasional39
HP:0001010HP:0001010Hypopigmentation of the skin0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0001010HP:0001010Hypopigmentation of the skin0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0001010HP:0001010Hypopigmentation of the skin0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0001010HP:0001010Hypopigmentation of the skin0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0001010HP:0001010Hypopigmentation of the skin0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0001010HP:0001010Hypopigmentation of the skin0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0001010HP:0001010Hypopigmentation of the skin0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0001010HP:0001010Hypopigmentation of the skin0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 9.35
HP:0001010HP:0001010Hypopigmentation of the skin0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0001010HP:0001010Hypopigmentation of the skin0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0001010HP:0001010Hypopigmentation of the skin0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0001010HP:0001010Hypopigmentation of the skin0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0001010HP:0001010Hypopigmentation of the skin0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0001010HP:0001010Hypopigmentation of the skin0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0001010HP:0001010Hypopigmentation of the skin0CAV1 CL E G H8571527ORPHA:220402Limited cutaneous systemic sclerosis11
HP:0001010HP:0001010Hypopigmentation of the skin0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0001010HP:0001010Hypopigmentation of the skin0CCN2 CL E G H14902500ORPHA:220402Limited cutaneous systemic sclerosis
HP:0001010HP:0001010Hypopigmentation of the skin0CCR6 CL E G H12351607ORPHA:220402Limited cutaneous systemic sclerosis
HP:0001010HP:0001010Hypopigmentation of the skin0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoides
HP:0001010HP:0001010Hypopigmentation of the skin0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0001010HP:0001010Hypopigmentation of the skin0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0001010HP:0001010Hypopigmentation of the skin0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0001010HP:0001010Hypopigmentation of the skin0CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0001010HP:0001010Hypopigmentation of the skin0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001010HP:0001010Hypopigmentation of the skin0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0001010HP:0001010Hypopigmentation of the skin0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0001010HP:0001010Hypopigmentation of the skin0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0001010HP:0001010Hypopigmentation of the skin0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0001010HP:0001010Hypopigmentation of the skin0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoides10
HP:0001010HP:0001010Hypopigmentation of the skin0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0001010HP:0001010Hypopigmentation of the skin0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0001010HP:0001010Hypopigmentation of the skin0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0001010HP:0001010Hypopigmentation of the skin0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0001010HP:0001010Hypopigmentation of the skin0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0001010HP:0001010Hypopigmentation of the skin0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0001010HP:0001010Hypopigmentation of the skin0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0001010HP:0001010Hypopigmentation of the skin0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0001010HP:0001010Hypopigmentation of the skin0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B67
HP:0001010HP:0001010Hypopigmentation of the skin0EDNRB CL E G H19103180OMIM:600501Abcd syndrome55
HP:0001010HP:0001010Hypopigmentation of the skin0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 255
HP:0001010HP:0001010Hypopigmentation of the skin0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0001010HP:0001010Hypopigmentation of the skin0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001010HP:0001010Hypopigmentation of the skin0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040281 - Very frequent40
HP:0001010HP:0001010Hypopigmentation of the skin0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0001010HP:0001010Hypopigmentation of the skin0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0001010HP:0001010Hypopigmentation of the skin0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0001010HP:0001010Hypopigmentation of the skin0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0001010HP:0001010Hypopigmentation of the skin0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0001010HP:0001010Hypopigmentation of the skin0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0001010HP:0001010Hypopigmentation of the skin0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0001010HP:0001010Hypopigmentation of the skin0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0001010HP:0001010Hypopigmentation of the skin0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0001010HP:0001010Hypopigmentation of the skin0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0001010HP:0001010Hypopigmentation of the skin0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0001010HP:0001010Hypopigmentation of the skin0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0001010HP:0001010Hypopigmentation of the skin0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0001010HP:0001010Hypopigmentation of the skin0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0001010HP:0001010Hypopigmentation of the skin0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0001010HP:0001010Hypopigmentation of the skin0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0001010HP:0001010Hypopigmentation of the skin0FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada disease59
HP:0001010HP:0001010Hypopigmentation of the skin0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0001010HP:0001010Hypopigmentation of the skin0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0001010HP:0001010Hypopigmentation of the skin0FGFR3 CL E G H22613690ORPHA:53271Muenke syndrome145
HP:0001010HP:0001010Hypopigmentation of the skin0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0001010HP:0001010Hypopigmentation of the skin0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent29
HP:0001010HP:0001010Hypopigmentation of the skin0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0001010HP:0001010Hypopigmentation of the skin0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0001010HP:0001010Hypopigmentation of the skin0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0001010HP:0001010Hypopigmentation of the skin0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001010HP:0001010Hypopigmentation of the skin0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0001010HP:0001010Hypopigmentation of the skin0HLA-DRB1 CL E G H31234948ORPHA:220402Limited cutaneous systemic sclerosis2
HP:0001010HP:0001010Hypopigmentation of the skin0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0001010HP:0001010Hypopigmentation of the skin0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0001010HP:0001010Hypopigmentation of the skin0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0001010HP:0001010Hypopigmentation of the skin0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0001010HP:0001010Hypopigmentation of the skin0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0001010HP:0001010Hypopigmentation of the skin0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0001010HP:0001010Hypopigmentation of the skin0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0001010HP:0001010Hypopigmentation of the skin0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0001010HP:0001010Hypopigmentation of the skin0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0001010HP:0001010Hypopigmentation of the skin0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0001010HP:0001010Hypopigmentation of the skin0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0001010HP:0001010Hypopigmentation of the skin0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0IRF5 CL E G H36636120ORPHA:220402Limited cutaneous systemic sclerosis4
HP:0001010HP:0001010Hypopigmentation of the skin0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0001010HP:0001010Hypopigmentation of the skin0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0001010HP:0001010Hypopigmentation of the skin0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0001010HP:0001010Hypopigmentation of the skin0KIAA0319L CL E G H7993230071ORPHA:220402Limited cutaneous systemic sclerosis
HP:0001010HP:0001010Hypopigmentation of the skin0KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0001010HP:0001010Hypopigmentation of the skin0KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0001010HP:0001010Hypopigmentation of the skin0KITLG CL E G H42546343OMIM:6199479
HP:0001010HP:0001010Hypopigmentation of the skin0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0001010HP:0001010Hypopigmentation of the skin0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 29
HP:0001010HP:0001010Hypopigmentation of the skin0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0001010HP:0001010Hypopigmentation of the skin0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0001010HP:0001010Hypopigmentation of the skin0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0001010HP:0001010Hypopigmentation of the skin0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0001010HP:0001010Hypopigmentation of the skin0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0001010HP:0001010Hypopigmentation of the skin0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0001010HP:0001010Hypopigmentation of the skin0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0001010HP:0001010Hypopigmentation of the skin0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0001010HP:0001010Hypopigmentation of the skin0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0001010HP:0001010Hypopigmentation of the skin0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0001010HP:0001010Hypopigmentation of the skin0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos disease173
HP:0001010HP:0001010Hypopigmentation of the skin0KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythema173
HP:0001010HP:0001010Hypopigmentation of the skin0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001010HP:0001010Hypopigmentation of the skin0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001010HP:0001010Hypopigmentation of the skin0LAMTOR2 CL E G H2895629796OMIM:610798Immunodeficiency due to defect in mapbp-interacting protein.1
HP:0001010HP:0001010Hypopigmentation of the skin0LAMTOR2 CL E G H2895629796ORPHA:90023Primary immunodeficiency syndrome due to LAMTOR2 deficiency1
HP:0001010HP:0001010Hypopigmentation of the skin0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0001010HP:0001010Hypopigmentation of the skin0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0001010HP:0001010Hypopigmentation of the skin0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0001010HP:0001010Hypopigmentation of the skin0LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V13
HP:0001010HP:0001010Hypopigmentation of the skin0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndrome239
HP:0001010HP:0001010Hypopigmentation of the skin0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0001010HP:0001010Hypopigmentation of the skin0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0001010HP:0001010Hypopigmentation of the skin0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0001010HP:0001010Hypopigmentation of the skin0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0001010HP:0001010Hypopigmentation of the skin0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0001010HP:0001010Hypopigmentation of the skin0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001010HP:0001010Hypopigmentation of the skin0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare63
HP:0001010HP:0001010Hypopigmentation of the skin0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare63
HP:0001010HP:0001010Hypopigmentation of the skin0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0001010HP:0001010Hypopigmentation of the skin0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0001010HP:0001010Hypopigmentation of the skin0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0001010HP:0001010Hypopigmentation of the skin0MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevus124
HP:0001010HP:0001010Hypopigmentation of the skin0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0001010HP:0001010Hypopigmentation of the skin0MITF CL E G H42867105ORPHA:42665Tietz syndromeHP:0040281 - Very frequent91
HP:0001010HP:0001010Hypopigmentation of the skin0MITF CL E G H42867105OMIM:103500Tietz syndrome91
HP:0001010HP:0001010Hypopigmentation of the skin0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 291
HP:0001010HP:0001010Hypopigmentation of the skin0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0001010HP:0001010Hypopigmentation of the skin0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001010HP:0001010Hypopigmentation of the skin0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0001010HP:0001010Hypopigmentation of the skin0MLPH CL E G H7908329643ORPHA:79478Griscelli syndrome type 37
HP:0001010HP:0001010Hypopigmentation of the skin0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0001010HP:0001010Hypopigmentation of the skin0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 135
HP:0001010HP:0001010Hypopigmentation of the skin0MYO5A CL E G H46447602ORPHA:79478Griscelli syndrome type 335
HP:0001010HP:0001010Hypopigmentation of the skin0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 1.35
HP:0001010HP:0001010Hypopigmentation of the skin0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040281 - Very frequent35
HP:0001010HP:0001010Hypopigmentation of the skin0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare
HP:0001010HP:0001010Hypopigmentation of the skin0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare
HP:0001010HP:0001010Hypopigmentation of the skin0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0001010HP:0001010Hypopigmentation of the skin0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0001010HP:0001010Hypopigmentation of the skin0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0001010HP:0001010Hypopigmentation of the skin0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0001010HP:0001010Hypopigmentation of the skin0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0001010HP:0001010Hypopigmentation of the skin0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001010HP:0001010Hypopigmentation of the skin0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0001010HP:0001010Hypopigmentation of the skin0NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevus102
HP:0001010HP:0001010Hypopigmentation of the skin0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0001010HP:0001010Hypopigmentation of the skin0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0001010HP:0001010Hypopigmentation of the skin0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0001010HP:0001010Hypopigmentation of the skin0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0001010HP:0001010Hypopigmentation of the skin0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0001010HP:0001010Hypopigmentation of the skin0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare121
HP:0001010HP:0001010Hypopigmentation of the skin0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0001010HP:0001010Hypopigmentation of the skin0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0001010HP:0001010Hypopigmentation of the skin0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0001010HP:0001010Hypopigmentation of the skin0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040281 - Very frequent641
HP:0001010HP:0001010Hypopigmentation of the skin0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0001010HP:0001010Hypopigmentation of the skin0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0001010HP:0001010Hypopigmentation of the skin0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0001010HP:0001010Hypopigmentation of the skin0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0001010HP:0001010Hypopigmentation of the skin0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0001010HP:0001010Hypopigmentation of the skin0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0001010HP:0001010Hypopigmentation of the skin0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0001010HP:0001010Hypopigmentation of the skin0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040282 - Frequent65
HP:0001010HP:0001010Hypopigmentation of the skin0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0001010HP:0001010Hypopigmentation of the skin0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0001010HP:0001010Hypopigmentation of the skin0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos disease2
HP:0001010HP:0001010Hypopigmentation of the skin0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0001010HP:0001010Hypopigmentation of the skin0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos disease6
HP:0001010HP:0001010Hypopigmentation of the skin0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040281 - Very frequent155
HP:0001010HP:0001010Hypopigmentation of the skin0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040282 - Frequent27
HP:0001010HP:0001010Hypopigmentation of the skin0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0001010HP:0001010Hypopigmentation of the skin0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0001010HP:0001010Hypopigmentation of the skin0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0001010HP:0001010Hypopigmentation of the skin0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos disease2
HP:0001010HP:0001010Hypopigmentation of the skin0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0001010HP:0001010Hypopigmentation of the skin0PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada disease3
HP:0001010HP:0001010Hypopigmentation of the skin0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0001010HP:0001010Hypopigmentation of the skin0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0001010HP:0001010Hypopigmentation of the skin0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0001010HP:0001010Hypopigmentation of the skin0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0001010HP:0001010Hypopigmentation of the skin0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040281 - Very frequent445
HP:0001010HP:0001010Hypopigmentation of the skin0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0001010HP:0001010Hypopigmentation of the skin0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0001010HP:0001010Hypopigmentation of the skin0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0001010HP:0001010Hypopigmentation of the skin0SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria1
HP:0001010HP:0001010Hypopigmentation of the skin0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0001010HP:0001010Hypopigmentation of the skin0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0001010HP:0001010Hypopigmentation of the skin0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0001010HP:0001010Hypopigmentation of the skin0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0001010HP:0001010Hypopigmentation of the skin0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0001010HP:0001010Hypopigmentation of the skin0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0001010HP:0001010Hypopigmentation of the skin0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0001010HP:0001010Hypopigmentation of the skin0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0001010HP:0001010Hypopigmentation of the skin0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0001010HP:0001010Hypopigmentation of the skin0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001010HP:0001010Hypopigmentation of the skin0SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI12
HP:0001010HP:0001010Hypopigmentation of the skin0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0001010HP:0001010Hypopigmentation of the skin0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0001010HP:0001010Hypopigmentation of the skin0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0001010HP:0001010Hypopigmentation of the skin0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup disease12
HP:0001010HP:0001010Hypopigmentation of the skin0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0001010HP:0001010Hypopigmentation of the skin0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0001010HP:0001010Hypopigmentation of the skin0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0001010HP:0001010Hypopigmentation of the skin0SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0001010HP:0001010Hypopigmentation of the skin0SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0001010HP:0001010Hypopigmentation of the skin0SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 219
HP:0001010HP:0001010Hypopigmentation of the skin0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0001010HP:0001010Hypopigmentation of the skin0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0001010HP:0001010Hypopigmentation of the skin0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare37
HP:0001010HP:0001010Hypopigmentation of the skin0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare37
HP:0001010HP:0001010Hypopigmentation of the skin0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0001010HP:0001010Hypopigmentation of the skin0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0001010HP:0001010Hypopigmentation of the skin0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001010HP:0001010Hypopigmentation of the skin0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001010HP:0001010Hypopigmentation of the skin0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0001010HP:0001010Hypopigmentation of the skin0SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 261
HP:0001010HP:0001010Hypopigmentation of the skin0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0001010HP:0001010Hypopigmentation of the skin0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C61
HP:0001010HP:0001010Hypopigmentation of the skin0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001010HP:0001010Hypopigmentation of the skin0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0001010HP:0001010Hypopigmentation of the skin0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0001010HP:0001010Hypopigmentation of the skin0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0001010HP:0001010Hypopigmentation of the skin0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0001010HP:0001010Hypopigmentation of the skin0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001010HP:0001010Hypopigmentation of the skin0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0001010HP:0001010Hypopigmentation of the skin0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0001010HP:0001010Hypopigmentation of the skin0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0001010HP:0001010Hypopigmentation of the skin0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoides
HP:0001010HP:0001010Hypopigmentation of the skin0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0001010HP:0001010Hypopigmentation of the skin0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0001010HP:0001010Hypopigmentation of the skin0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0001010HP:0001010Hypopigmentation of the skin0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0001010HP:0001010Hypopigmentation of the skin0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0001010HP:0001010Hypopigmentation of the skin0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0001010HP:0001010Hypopigmentation of the skin0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0001010HP:0001010Hypopigmentation of the skin0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0001010HP:0001010Hypopigmentation of the skin0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0001010HP:0001010Hypopigmentation of the skin0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0001010HP:0001010Hypopigmentation of the skin0TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0001010HP:0001010Hypopigmentation of the skin0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0001010HP:0001010Hypopigmentation of the skin0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0001010HP:0001010Hypopigmentation of the skin0TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2146
HP:0001010HP:0001010Hypopigmentation of the skin0TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III62
HP:0001010HP:0001010Hypopigmentation of the skin0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040282 - Frequent62
HP:0001010HP:0001010Hypopigmentation of the skin0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0001010HP:0001010Hypopigmentation of the skin0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001010HP:0001010Hypopigmentation of the skin0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0001010HP:0001010Hypopigmentation of the skin0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0001010HP:0001010Hypopigmentation of the skin0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0001010HP:0001010Hypopigmentation of the skin0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0001010HP:0001010Hypopigmentation of the skin0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0001010HP:0001010Hypopigmentation of the skin0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0001010HP:0001010Hypopigmentation of the skin0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0001010HP:0001010Hypopigmentation of the skin0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040282 - Frequent31
HP:0001010HP:0001010Hypopigmentation of the skin0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent41
HP:0001010HP:0001010Hypopigmentation of the skin0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0001010HP:0001010Hypopigmentation of the skin0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0001010HP:0001010Hypopigmentation of the skin0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0001010HP:0001010Hypopigmentation of the skin0WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V51
HP:0001010HP:0001010Hypopigmentation of the skin0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0001010HP:0001010Hypopigmentation of the skin0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0001010HP:0001010Hypopigmentation of the skin0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0001010HP:0001010Hypopigmentation of the skin0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0001010HP:0001010Hypopigmentation of the skin0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0001010HP:0001010Hypopigmentation of the skin0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0001010HP:0001010Hypopigmentation of the skin0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0001010HP:0001010Hypopigmentation of the skin0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001010HP:0001010Hypopigmentation of the skin0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001010HP:0007535Hypopigmented streaks1 CL E G H
HP:0001010HP:0007554Confetti hypopigmentation pattern of lower leg skin1 CL E G H
HP:0001010HP:0001053Hypopigmented skin patches1ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditariaHP:0040281 - Very frequent20
HP:0001010HP:0001053Hypopigmented skin patches1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001010HP:0001053Hypopigmented skin patches1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1116
HP:0001010HP:0001053Hypopigmented skin patches1AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040283 - Occasional92
HP:0001010HP:0001053Hypopigmented skin patches1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0001010HP:0001053Hypopigmented skin patches1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040283 - Occasional8
HP:0001010HP:0007513Generalized hypopigmentation1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001010HP:0007513Generalized hypopigmentation1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001010HP:0001053Hypopigmented skin patches1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001010HP:0001053Hypopigmented skin patches1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0001010HP:0007513Generalized hypopigmentation1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0001010HP:0007513Generalized hypopigmentation1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0001010HP:0001053Hypopigmented skin patches1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040281 - Very frequent5769
HP:0001010HP:0001053Hypopigmented skin patches1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040281 - Very frequent7642
HP:0001010HP:0001053Hypopigmented skin patches1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1086
HP:0001010HP:0001053Hypopigmented skin patches1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040283 - Occasional109
HP:0001010HP:0007513Generalized hypopigmentation1CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0001010HP:0001053Hypopigmented skin patches1CAV1 CL E G H8571527ORPHA:220402Limited cutaneous systemic sclerosisHP:0040281 - Very frequent11
HP:0001010HP:0001053Hypopigmented skin patches1CCN2 CL E G H14902500ORPHA:220402Limited cutaneous systemic sclerosisHP:0040281 - Very frequent
HP:0001010HP:0001053Hypopigmented skin patches1CCR6 CL E G H12351607ORPHA:220402Limited cutaneous systemic sclerosisHP:0040281 - Very frequent
HP:0001010HP:0001053Hypopigmented skin patches1CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0001010HP:0001053Hypopigmented skin patches1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001010HP:0001053Hypopigmented skin patches1CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent
HP:0001010HP:0001053Hypopigmented skin patches1CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040283 - Occasional
HP:0001010HP:0007544Piebaldism1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001010HP:0001053Hypopigmented skin patches1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001010HP:0001053Hypopigmented skin patches1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent6
HP:0001010HP:0001053Hypopigmented skin patches1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0001010HP:0001053Hypopigmented skin patches1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0001010HP:0001053Hypopigmented skin patches1CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent10
HP:0001010HP:0001053Hypopigmented skin patches1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0001010HP:0001053Hypopigmented skin patches1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0001010HP:0001053Hypopigmented skin patches1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0001010HP:0007513Generalized hypopigmentation1DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0001010HP:0001053Hypopigmented skin patches1EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0001010HP:0001053Hypopigmented skin patches1EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0001010HP:0007513Generalized hypopigmentation1EDNRB CL E G H19103180OMIM:600501Abcd syndrome55
HP:0001010HP:0001053Hypopigmented skin patches1EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent55
HP:0001010HP:0001053Hypopigmented skin patches1EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0001010HP:0007513Generalized hypopigmentation1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0001010HP:0001053Hypopigmented skin patches1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0001010HP:0001053Hypopigmented skin patches1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0001010HP:0001053Hypopigmented skin patches1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040281 - Very frequent158
HP:0001010HP:0001053Hypopigmented skin patches1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0001010HP:0001053Hypopigmented skin patches1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0001010HP:0001053Hypopigmented skin patches1ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0001010HP:0001053Hypopigmented skin patches1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040281 - Very frequent340
HP:0001010HP:0001053Hypopigmented skin patches1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040281 - Very frequent58
HP:0001010HP:0001053Hypopigmented skin patches1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040281 - Very frequent410
HP:0001010HP:0001053Hypopigmented skin patches1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040281 - Very frequent147
HP:0001010HP:0001053Hypopigmented skin patches1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0001010HP:0001053Hypopigmented skin patches1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040281 - Very frequent87
HP:0001010HP:0001053Hypopigmented skin patches1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0001010HP:0001053Hypopigmented skin patches1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040281 - Very frequent157
HP:0001010HP:0001053Hypopigmented skin patches1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040281 - Very frequent53
HP:0001010HP:0001053Hypopigmented skin patches1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040281 - Very frequent107
HP:0001010HP:0001053Hypopigmented skin patches1FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040281 - Very frequent59
HP:0001010HP:0001053Hypopigmented skin patches1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0001010HP:0001053Hypopigmented skin patches1FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0001010HP:0001053Hypopigmented skin patches1FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040283 - Occasional145
HP:0001010HP:0001053Hypopigmented skin patches1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040284 - Very rare160
HP:0001010HP:0001053Hypopigmented skin patches1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001010HP:0001053Hypopigmented skin patches1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent11
HP:0001010HP:0007513Generalized hypopigmentation1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome.38
HP:0001010HP:0001053Hypopigmented skin patches1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001010HP:0001053Hypopigmented skin patches1HLA-DRB1 CL E G H31234948ORPHA:220402Limited cutaneous systemic sclerosisHP:0040281 - Very frequent2
HP:0001010HP:0007513Generalized hypopigmentation1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0001010HP:0007513Generalized hypopigmentation1HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0001010HP:0007513Generalized hypopigmentation1HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0001010HP:0007513Generalized hypopigmentation1HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0001010HP:0007513Generalized hypopigmentation1HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0001010HP:0009719Hypomelanotic macule1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent23
HP:0001010HP:0009719Hypomelanotic macule1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0001010HP:0001053Hypopigmented skin patches1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0001010HP:0001053Hypopigmented skin patches1IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent
HP:0001010HP:0007513Generalized hypopigmentation1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome.
HP:0001010HP:0001053Hypopigmented skin patches1IRF5 CL E G H36636120ORPHA:220402Limited cutaneous systemic sclerosisHP:0040281 - Very frequent4
HP:0001010HP:0001053Hypopigmented skin patches1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001010HP:0001053Hypopigmented skin patches1KIAA0319L CL E G H7993230071ORPHA:220402Limited cutaneous systemic sclerosisHP:0040281 - Very frequent
HP:0001010HP:0007544Piebaldism1KIT CL E G H38156342OMIM:172800Piebald trait.327
HP:0001010HP:0200098Absent skin pigmentation1KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0001010HP:0007443Partial albinism1KIT CL E G H38156342OMIM:172800Piebald trait.327
HP:0001010HP:0007544Piebaldism1KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040281 - Very frequent327
HP:0001010HP:0001053Hypopigmented skin patches1KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040282 - Frequent327
HP:0001010HP:0001053Hypopigmented skin patches1KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0001010HP:0001053Hypopigmented skin patches1KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent9
HP:0001010HP:0001053Hypopigmented skin patches1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001010HP:0009719Hypomelanotic macule1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0001010HP:0001053Hypopigmented skin patches1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0001010HP:0001053Hypopigmented skin patches1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent110
HP:0001010HP:0009719Hypomelanotic macule1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0001010HP:0009719Hypomelanotic macule1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0001010HP:0001053Hypopigmented skin patches1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare173
HP:0001010HP:0007513Generalized hypopigmentation1KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythemaHP:0040282 - Frequent173
HP:0001010HP:0001053Hypopigmented skin patches1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040281 - Very frequent173
HP:0001010HP:0009719Hypomelanotic macule1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0001010HP:0007443Partial albinism1LAMTOR2 CL E G H2895629796ORPHA:90023Primary immunodeficiency syndrome due to LAMTOR2 deficiencyHP:0040281 - Very frequent1
HP:0001010HP:0007513Generalized hypopigmentation1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040281 - Very frequent68
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0001010HP:0007513Generalized hypopigmentation1LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V13
HP:0001010HP:0007513Generalized hypopigmentation1LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0001010HP:0001053Hypopigmented skin patches1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1
HP:0001010HP:0001053Hypopigmented skin patches1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001010HP:0007513Generalized hypopigmentation1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome.63
HP:0001010HP:0007513Generalized hypopigmentation1MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0001010HP:0001053Hypopigmented skin patches1MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional124
HP:0001010HP:0200098Absent skin pigmentation1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional124
HP:0001010HP:0007513Generalized hypopigmentation1MITF CL E G H42867105OMIM:103500Tietz syndrome.91
HP:0001010HP:0001053Hypopigmented skin patches1MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent91
HP:0001010HP:0007513Generalized hypopigmentation1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0001010HP:0007443Partial albinism1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0001010HP:0007513Generalized hypopigmentation1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome.5
HP:0001010HP:0007513Generalized hypopigmentation1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome.
HP:0001010HP:0007443Partial albinism1MLPH CL E G H7908329643ORPHA:79478Griscelli syndrome type 3HP:0040283 - Occasional7
HP:0001010HP:0001053Hypopigmented skin patches1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0001010HP:0007443Partial albinism1MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040281 - Very frequent35
HP:0001010HP:0007443Partial albinism1MYO5A CL E G H46447602ORPHA:79478Griscelli syndrome type 3HP:0040283 - Occasional35
HP:0001010HP:0001053Hypopigmented skin patches1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent3
HP:0001010HP:0001053Hypopigmented skin patches1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0001010HP:0001053Hypopigmented skin patches1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0001010HP:0007513Generalized hypopigmentation1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome.1
HP:0001010HP:0001053Hypopigmented skin patches1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0001010HP:0001053Hypopigmented skin patches1NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional102
HP:0001010HP:0007513Generalized hypopigmentation1OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0001010HP:0200098Absent skin pigmentation1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional121
HP:0001010HP:0007513Generalized hypopigmentation1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0001010HP:0001053Hypopigmented skin patches1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1349
HP:0001010HP:0001053Hypopigmented skin patches1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0001010HP:0001053Hypopigmented skin patches1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0001010HP:0007443Partial albinism1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0001010HP:0007443Partial albinism1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0001010HP:0001053Hypopigmented skin patches1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0001010HP:0001053Hypopigmented skin patches1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040282 - Frequent531
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0001010HP:0001053Hypopigmented skin patches1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0001010HP:0009719Hypomelanotic macule1POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 2.2
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare6
HP:0001010HP:0001053Hypopigmented skin patches1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040284 - Very rare81
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0001010HP:0001053Hypopigmented skin patches1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0001010HP:0001053Hypopigmented skin patches1PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040281 - Very frequent3
HP:0001010HP:0007513Generalized hypopigmentation1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome.
HP:0001010HP:0007513Generalized hypopigmentation1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome.
HP:0001010HP:0007443Partial albinism1RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040281 - Very frequent67
HP:0001010HP:0001053Hypopigmented skin patches1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040281 - Very frequent9
HP:0001010HP:0001053Hypopigmented skin patches1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040281 - Very frequent391
HP:0001010HP:0001053Hypopigmented skin patches1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040281 - Very frequent
HP:0001010HP:0001053Hypopigmented skin patches1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001010HP:0001053Hypopigmented skin patches1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0001010HP:0001053Hypopigmented skin patches1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria1
HP:0001010HP:0001053Hypopigmented skin patches1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0001010HP:0001053Hypopigmented skin patches1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0001010HP:0001053Hypopigmented skin patches1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0001010HP:0001053Hypopigmented skin patches1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0001010HP:0001053Hypopigmented skin patches1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001010HP:0007513Generalized hypopigmentation1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0001010HP:0007513Generalized hypopigmentation1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0001010HP:0007513Generalized hypopigmentation1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0001010HP:0007513Generalized hypopigmentation1SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI.12
HP:0001010HP:0007513Generalized hypopigmentation1SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0001010HP:0007513Generalized hypopigmentation1SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0001010HP:0001053Hypopigmented skin patches1SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040283 - Occasional12
HP:0001010HP:0001053Hypopigmented skin patches1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040281 - Very frequent274
HP:0001010HP:0001053Hypopigmented skin patches1SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040281 - Very frequent22
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0001010HP:0007544Piebaldism1SNAI2 CL E G H659111094OMIM:172800Piebald trait.19
HP:0001010HP:0200098Absent skin pigmentation1SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0001010HP:0007443Partial albinism1SNAI2 CL E G H659111094OMIM:172800Piebald trait.19
HP:0001010HP:0001053Hypopigmented skin patches1SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040282 - Frequent19
HP:0001010HP:0007544Piebaldism1SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040281 - Very frequent19
HP:0001010HP:0001053Hypopigmented skin patches1SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent19
HP:0001010HP:0007513Generalized hypopigmentation1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome.
HP:0001010HP:0007513Generalized hypopigmentation1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome.
HP:0001010HP:0001053Hypopigmented skin patches1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0001010HP:0001053Hypopigmented skin patches1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0001010HP:0001053Hypopigmented skin patches1SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent61
HP:0001010HP:0001053Hypopigmented skin patches1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0001010HP:0001053Hypopigmented skin patches1SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0001010HP:0001053Hypopigmented skin patches1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001010HP:0001053Hypopigmented skin patches1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0001010HP:0001053Hypopigmented skin patches1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0001010HP:0001053Hypopigmented skin patches1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0001010HP:0001053Hypopigmented skin patches1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0001010HP:0001053Hypopigmented skin patches1TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent10
HP:0001010HP:0001053Hypopigmented skin patches1TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent4
HP:0001010HP:0001053Hypopigmented skin patches1TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0001010HP:0007513Generalized hypopigmentation1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0001010HP:0007513Generalized hypopigmentation1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0001010HP:0009719Hypomelanotic macule1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent1090
HP:0001010HP:0009719Hypomelanotic macule1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0001010HP:0009719Hypomelanotic macule1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent2738
HP:0001010HP:0009719Hypomelanotic macule1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0001010HP:0001053Hypopigmented skin patches1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040283 - Occasional7
HP:0001010HP:0001053Hypopigmented skin patches1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0001010HP:0007513Generalized hypopigmentation1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0001010HP:0200098Absent skin pigmentation1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0001010HP:0007513Generalized hypopigmentation1TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB146
HP:0001010HP:0007513Generalized hypopigmentation1TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0001010HP:0007513Generalized hypopigmentation1TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0001010HP:0001053Hypopigmented skin patches1TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent146
HP:0001010HP:0007513Generalized hypopigmentation1TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III62
HP:0001010HP:0007443Partial albinism1TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III.62
HP:0001010HP:0200098Absent skin pigmentation1TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040283 - Occasional62
HP:0001010HP:0001053Hypopigmented skin patches1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0001010HP:0009123Mixed hypo- and hyperpigmentation of the skin1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001010HP:0001053Hypopigmented skin patches1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040281 - Very frequent2
HP:0001010HP:0001053Hypopigmented skin patches1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001010HP:0001053Hypopigmented skin patches1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0001010HP:0001053Hypopigmented skin patches1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001010HP:0007513Generalized hypopigmentation1WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V51
HP:0001010HP:0001053Hypopigmented skin patches1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0001010HP:0001053Hypopigmented skin patches1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0001010HP:0001053Hypopigmented skin patches1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0001010HP:0001053Hypopigmented skin patches1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040281 - Very frequent125
HP:0001010HP:0007544Piebaldism1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0001010HP:0007513Generalized hypopigmentation1ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001010HP:0007471Axillary and groin hyperpigmentation and hypopigmentation2 CL E G H
HP:0001010HP:0030679Ash-leaf spot2 CL E G H
HP:0001010HP:0007450Increased groin pigmentation with raindrop depigmentation2 CL E G H
HP:0001010HP:0012320Absent pigmentation of the limbs2 CL E G H
HP:0001010HP:0005593Macular hypopigmented whorls, streaks, and patches2 CL E G H
HP:0001010HP:0012319Absent pigmentation of the abdomen2 CL E G H
HP:0001010HP:0007581Mediosternal, longitudinal streak of hypopigmentation2 CL E G H
HP:0001010HP:0005590Spotty hypopigmentation2ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditariaHP:0040281 - Very frequent20
HP:0001010HP:0005590Spotty hypopigmentation2ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001010HP:0007526Hypopigmented skin patches on arms2ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0001010HP:0007441Hyperpigmented/hypopigmented macules2ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1.116
HP:0001010HP:0001022Albinism2AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001010HP:0001022Albinism2AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001010HP:0005590Spotty hypopigmentation2BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0001010HP:0001022Albinism2BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0001010HP:0001022Albinism2BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0001010HP:0001022Albinism2CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0001010HP:0005590Spotty hypopigmentation2CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0001010HP:0001022Albinism2DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 7.46
HP:0001010HP:0005590Spotty hypopigmentation2EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0001010HP:0001022Albinism2EDNRB CL E G H19103180OMIM:600501Abcd syndrome.55
HP:0001010HP:0001022Albinism2EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001010HP:0005590Spotty hypopigmentation2FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome.136
HP:0001010HP:0001022Albinism2HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0001010HP:0001022Albinism2HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0001010HP:0001022Albinism2HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0001010HP:0001022Albinism2HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0001010HP:0001022Albinism2HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0001010HP:0040007Absent pigmentation of chest2KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0001010HP:0005590Spotty hypopigmentation2KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040282 - Frequent110
HP:0001010HP:0005590Spotty hypopigmentation2KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0001010HP:0005590Spotty hypopigmentation2KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040282 - Frequent173
HP:0001010HP:0005590Spotty hypopigmentation2KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0001010HP:0007441Hyperpigmented/hypopigmented macules2KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001010HP:0007509Patchy hypo- and hyperpigmentation2LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0001010HP:0001022Albinism2LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V.13
HP:0001010HP:0001022Albinism2MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0001010HP:0001022Albinism2MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.HP:0003577 - Congenital onset91
HP:0001010HP:0001022Albinism2OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0001010HP:0007402Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines2PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0001010HP:0007441Hyperpigmented/hypopigmented macules2PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0001010HP:0007441Hyperpigmented/hypopigmented macules2SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria.1
HP:0001010HP:0001022Albinism2SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0001010HP:0001022Albinism2SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0001010HP:0007509Patchy hypo- and hyperpigmentation2SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0001010HP:0040007Absent pigmentation of chest2SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0001010HP:0001022Albinism2TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0001010HP:0001022Albinism2TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0001010HP:0001022Albinism2TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0001010HP:0001022Albinism2TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0001010HP:0001022Albinism2TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III.62
HP:0001010HP:0005590Spotty hypopigmentation2UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0001010HP:0007509Patchy hypo- and hyperpigmentation2UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0001010HP:0001022Albinism2WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V.51
HP:0001010HP:0007542Absent pigmentation of the ventral chest3KIT CL E G H38156342OMIM:172800Piebald trait.327
HP:0001010HP:0007494Discrete 2 to 5-mm hyper- and hypopigmented macules3KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173
HP:0001010HP:0007542Absent pigmentation of the ventral chest3SNAI2 CL E G H659111094OMIM:172800Piebald trait.19


Genes (213) :ABCB6 ABCC9 ACP5 ADAR AIRE AKT1 ALG3 ANAPC1 ANTXR1 AP3B1 AP3D1 APC2 APOE ARVCF ATP10A ATP7A BLM BLOC1S3 BLOC1S5 BLOC1S6 BRCA1 BRCA2 BRIP1 BTK BTNL2 CACNA1F CAV1 CBS CCN2 CCR6 CD28 CHN1 CIB1 CLCN7 CLTRN COL25A1 COMT COX7B CRIPT CTC1 CTLA4 CTNS CTSC DCPS DCT DDB2 DKC1 DTNBP1 EBP EDN3 EDNRB EPG5 ERCC2 ERCC3 ERCC4 ERCC5 ERF FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FERMT1 FGFR2 FGFR3 GALC GATA1 GNPTAB GP1BB HCCS HERC2 HIRA HLA-DRB1 HPS1 HPS3 HPS4 HPS5 HPS6 HRAS IFNG IKBKG IL7 IPW IRF5 JMJD1C KANSL1 KIAA0319L KIT KITLG KLHL24 KLLN KRAS KRT14 KRT5 LAMTOR2 LEMD3 LIPE LMNA LRMDA LYST MAD2L2 MAFB MAGEL2 MC1R MITF MKRN3 MKRN3-AS1 MLH1 MLPH MTOR MYO5A NDN NDUFB11 NHP2 NOP10 NPAP1 NPM1 NRAS NSD1 OCA2 OCRL PAH PALB2 PARN PAX3 PCNT PCSK1 PIGN PIK3CA POFUT1 POGLUT1 POLH POMC PORCN PPOX PSAP PSENEN PTEN PTPN22 PWAR1 PWRN1 RAB27A RAD51 RAD51C RECQL4 RFWD3 RREB1 RTEL1 SALL4 SASH1 SDHB SDHC SDHD SEC23B SEC24C SETD2 SIM1 SKIC2 SKIC3 SLC17A5 SLC24A5 SLC35A2 SLC45A2 SLC6A19 SLX4 SMO SMS SNAI2 SNORD115-1 SNORD116-1 SNRPN SOX10 SPTBN1 TBX1 TCF4 TERC TERT TFE3 TINF2 TMC6 TMC8 TNFRSF1B TOE1 TP63 TSC1 TSC2 TWIST2 TYMS TYR TYRP1 UBE2A UBE2T UBE3A UFD1 UROD UROS USB1 USF3 WDR45 WDR73 WRAP53 XPA XPC XRCC2 ZFHX4 ZNF699 ZPR1

Diseases (166) :ORPHA:241 OMIM:619719 OMIM:607944 OMIM:127400 ORPHA:3453 ORPHA:201 ORPHA:79321 ORPHA:221008 ORPHA:2067 OMIM:608233 OMIM:617050 ORPHA:821 ORPHA:158029 ORPHA:567 ORPHA:411515 OMIM:309400 OMIM:210900 ORPHA:125 OMIM:614077 OMIM:619172 OMIM:614171 ORPHA:84 ORPHA:47 ORPHA:797 OMIM:300600 ORPHA:220402 OMIM:236200 ORPHA:2584 ORPHA:233 ORPHA:302 OMIM:618541 ORPHA:2116 ORPHA:91411 ORPHA:2556 OMIM:615789 ORPHA:1775 OMIM:219800 ORPHA:678 OMIM:616459 OMIM:619165 ORPHA:910 OMIM:614076 ORPHA:401973 OMIM:613265 OMIM:600501 ORPHA:895 OMIM:277580 OMIM:242840 ORPHA:1493 ORPHA:207 ORPHA:3437 OMIM:173650 ORPHA:53271 ORPHA:206436 ORPHA:79277 OMIM:252500 OMIM:176270 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:163200 ORPHA:805 OMIM:613254 ORPHA:464 ORPHA:363958 ORPHA:363965 OMIM:172800 ORPHA:2884 OMIM:619947 OMIM:145250 OMIM:617294 ORPHA:79399 ORPHA:79396 ORPHA:89838 ORPHA:79397 ORPHA:69087 ORPHA:79145 ORPHA:158681 OMIM:131960 OMIM:610798 ORPHA:90023 ORPHA:1306 OMIM:615980 ORPHA:79474 OMIM:615179 ORPHA:352723 ORPHA:167 OMIM:214500 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:203200 ORPHA:626 ORPHA:79432 ORPHA:42665 OMIM:103500 OMIM:193510 OMIM:276300 ORPHA:79478 ORPHA:457485 ORPHA:79476 OMIM:214450 ORPHA:33445 ORPHA:98794 ORPHA:534 ORPHA:79254 ORPHA:894 OMIM:193500 OMIM:148820 ORPHA:2637 OMIM:210720 ORPHA:71528 ORPHA:280633 OMIM:615327 ORPHA:90342 ORPHA:71526 OMIM:305600 ORPHA:79473 ORPHA:79477 OMIM:607624 ORPHA:221016 OMIM:127500 ORPHA:398079 ORPHA:84064 OMIM:222470 OMIM:269920 OMIM:113750 ORPHA:356961 OMIM:606574 ORPHA:79435 ORPHA:1553 ORPHA:3063 OMIM:105830 ORPHA:177907 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:613266 OMIM:619475 ORPHA:2896 OMIM:301066 OMIM:614969 OMIM:604292 ORPHA:1896 OMIM:191100 ORPHA:1807 OMIM:203100 OMIM:606952 ORPHA:79431 ORPHA:79434 OMIM:203290 ORPHA:79433 OMIM:300860 ORPHA:163956 ORPHA:411511 ORPHA:98795 ORPHA:95159 OMIM:263700 OMIM:251300 OMIM:278720 OMIM:619488 OMIM:619321
 

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