Human Phenotype Ontology 
Grandparent Node:
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Localized skin lesion (HP:0011355)help
Parent Node:
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Irregular hyperpigmentation (HP:0007400)help
Parent Node:
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Macule (HP:0012733)help
..Starting node
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Hypermelanotic macule (HP:0001034)help
Term ID: 1034
Name: Hypermelanotic macule
Synonym: Hyperpigmented macules; Hyperpigmented skin patches; Hyperpigmented spots
Definition: A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Comments:
Reference: HP:0001034
Genes and Diseases:
 
       Child Nodes:
........expandMultiple lentigines (HP:0001003) help
........expandLarge cafe-au-lait macules with irregular margins (HP:0005605) help
........expandMacular hyperpigmented dermopathy (HP:0007412) help
........expandMongolian blue spot (HP:0011369) help

 Sister Nodes: 
..expandErythematous macule (HP:0025475) help
..expandHyperpigmented/hypopigmented macules (HP:0007441) help
..expandHypomelanotic macule (HP:0009719) 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:0001034HP:0001034Hypermelanotic macule0ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditariaHP:0040281 - Very frequent20
HP:0001034HP:0001034Hypermelanotic macule0ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0001034HP:0001034Hypermelanotic macule0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001034HP:0001034Hypermelanotic macule0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0001034HP:0001034Hypermelanotic macule0ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040281 - Very frequent72
HP:0001034HP:0001034Hypermelanotic macule0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0001034HP:0001034Hypermelanotic macule0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0001034HP:0001034Hypermelanotic macule0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0001034HP:0001034Hypermelanotic macule0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0001034HP:0001034Hypermelanotic macule0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0001034HP:0001034Hypermelanotic macule0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0001034HP:0001034Hypermelanotic macule0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0001034HP:0001034Hypermelanotic macule0ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040281 - Very frequent86
HP:0001034HP:0001034Hypermelanotic macule0ATP2A2 CL E G H488812OMIM:124200Darier-White diseaseHP:0040283 - Occasional86
HP:0001034HP:0001034Hypermelanotic macule0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0001034HP:0001034Hypermelanotic macule0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0001034HP:0001034Hypermelanotic macule0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0001034HP:0001034Hypermelanotic macule0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001034HP:0001034Hypermelanotic macule0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001034HP:0001034Hypermelanotic macule0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001034HP:0001034Hypermelanotic macule0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0001034HP:0001034Hypermelanotic macule0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0001034HP:0001034Hypermelanotic macule0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0001034HP:0001034Hypermelanotic macule0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0001034HP:0001034Hypermelanotic macule0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0001034HP:0001034Hypermelanotic macule0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0001034HP:0001034Hypermelanotic macule0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0001034HP:0001034Hypermelanotic macule0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0001034HP:0001034Hypermelanotic macule0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0001034HP:0001034Hypermelanotic macule0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent15
HP:0001034HP:0001034Hypermelanotic macule0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent7
HP:0001034HP:0001034Hypermelanotic macule0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0001034HP:0001034Hypermelanotic macule0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0001034HP:0001034Hypermelanotic macule0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0001034HP:0001034Hypermelanotic macule0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0001034HP:0001034Hypermelanotic macule0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0001034HP:0001034Hypermelanotic macule0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0001034HP:0001034Hypermelanotic macule0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0001034HP:0001034Hypermelanotic macule0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001034HP:0001034Hypermelanotic macule0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0001034HP:0001034Hypermelanotic macule0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0001034HP:0001034Hypermelanotic macule0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0001034HP:0001034Hypermelanotic macule0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001034HP:0001034Hypermelanotic macule0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001034HP:0001034Hypermelanotic macule0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001034HP:0001034Hypermelanotic macule0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent160
HP:0001034HP:0001034Hypermelanotic macule0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0001034HP:0001034Hypermelanotic macule0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0001034HP:0001034Hypermelanotic macule0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0001034HP:0001034Hypermelanotic macule0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0001034HP:0001034Hypermelanotic macule0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0001034HP:0001034Hypermelanotic macule0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0001034HP:0001034Hypermelanotic macule0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent65
HP:0001034HP:0001034Hypermelanotic macule0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0001034HP:0001034Hypermelanotic macule0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001034HP:0001034Hypermelanotic macule0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001034HP:0001034Hypermelanotic macule0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0001034HP:0001034Hypermelanotic macule0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0001034HP:0001034Hypermelanotic macule0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0001034HP:0001034Hypermelanotic macule0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0001034HP:0001034Hypermelanotic macule0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0001034HP:0001034Hypermelanotic macule0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0001034HP:0001034Hypermelanotic macule0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0001034HP:0001034Hypermelanotic macule0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0001034HP:0001034Hypermelanotic macule0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0001034HP:0001034Hypermelanotic macule0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0001034HP:0001034Hypermelanotic macule0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0001034HP:0001034Hypermelanotic macule0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0001034HP:0001034Hypermelanotic macule0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0001034HP:0001034Hypermelanotic macule0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0001034HP:0001034Hypermelanotic macule0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0001034HP:0001034Hypermelanotic macule0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0001034HP:0001034Hypermelanotic macule0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0001034HP:0001034Hypermelanotic macule0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0001034HP:0001034Hypermelanotic macule0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0001034HP:0001034Hypermelanotic macule0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001034HP:0001034Hypermelanotic macule0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0001034HP:0001034Hypermelanotic macule0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0001034HP:0001034Hypermelanotic macule0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0001034HP:0001034Hypermelanotic macule0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0001034HP:0001034Hypermelanotic macule0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0001034HP:0001034Hypermelanotic macule0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0001034HP:0001034Hypermelanotic macule0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0001034HP:0001034Hypermelanotic macule0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0001034HP:0001034Hypermelanotic macule0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0001034HP:0001034Hypermelanotic macule0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0001034HP:0001034Hypermelanotic macule0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0001034HP:0001034Hypermelanotic macule0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040283 - Occasional145
HP:0001034HP:0001034Hypermelanotic macule0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent68
HP:0001034HP:0001034Hypermelanotic macule0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent74
HP:0001034HP:0001034Hypermelanotic macule0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent12
HP:0001034HP:0001034Hypermelanotic macule0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0001034HP:0001034Hypermelanotic macule0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040281 - Very frequent7
HP:0001034HP:0001034Hypermelanotic macule0GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0001034HP:0001034Hypermelanotic macule0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0001034HP:0001034Hypermelanotic macule0GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasiaHP:0040283 - Occasional101
HP:0001034HP:0001034Hypermelanotic macule0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001034HP:0001034Hypermelanotic macule0GPNMB CL E G H104574462OMIM:617920Amyloidosis, primary localized cutaneous, 3.
HP:0001034HP:0001034Hypermelanotic macule0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0001034HP:0001034Hypermelanotic macule0H4C5 CL E G H83674790OMIM:619950
HP:0001034HP:0001034Hypermelanotic macule0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0001034HP:0001034Hypermelanotic macule0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0001034HP:0001034Hypermelanotic macule0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0001034HP:0001034Hypermelanotic macule0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0001034HP:0001034Hypermelanotic macule0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0001034HP:0001034Hypermelanotic macule0IL6 CL E G H35696018OMIM:148000Kaposi sarcoma, susceptibility to.2
HP:0001034HP:0001034Hypermelanotic macule0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0001034HP:0001034Hypermelanotic macule0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0001034HP:0001034Hypermelanotic macule0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0001034HP:0001034Hypermelanotic macule0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0001034HP:0001034Hypermelanotic macule0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0001034HP:0001034Hypermelanotic macule0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0001034HP:0001034Hypermelanotic macule0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0001034HP:0001034Hypermelanotic macule0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent4
HP:0001034HP:0001034Hypermelanotic macule0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0001034HP:0001034Hypermelanotic macule0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytomaHP:0040283 - Occasional327
HP:0001034HP:0001034Hypermelanotic macule0KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous.327
HP:0001034HP:0001034Hypermelanotic macule0KITLG CL E G H42546343OMIM:6199479
HP:0001034HP:0001034Hypermelanotic macule0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0001034HP:0001034Hypermelanotic macule0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0001034HP:0001034Hypermelanotic macule0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0001034HP:0001034Hypermelanotic macule0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0001034HP:0001034Hypermelanotic macule0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0001034HP:0001034Hypermelanotic macule0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0001034HP:0001034Hypermelanotic macule0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0001034HP:0001034Hypermelanotic macule0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional173
HP:0001034HP:0001034Hypermelanotic macule0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0001034HP:0001034Hypermelanotic macule0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0001034HP:0001034Hypermelanotic macule0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001034HP:0001034Hypermelanotic macule0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0001034HP:0001034Hypermelanotic macule0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0001034HP:0001034Hypermelanotic macule0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0001034HP:0001034Hypermelanotic macule0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0001034HP:0001034Hypermelanotic macule0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001034HP:0001034Hypermelanotic macule0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0001034HP:0001034Hypermelanotic macule0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0001034HP:0001034Hypermelanotic macule0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0001034HP:0001034Hypermelanotic macule0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001034HP:0001034Hypermelanotic macule0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0001034HP:0001034Hypermelanotic macule0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0001034HP:0001034Hypermelanotic macule0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0001034HP:0001034Hypermelanotic macule0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0001034HP:0001034Hypermelanotic macule0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0001034HP:0001034Hypermelanotic macule0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0001034HP:0001034Hypermelanotic macule0MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0001034HP:0001034Hypermelanotic macule0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0001034HP:0001034Hypermelanotic macule0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0001034HP:0001034Hypermelanotic macule0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0001034HP:0001034Hypermelanotic macule0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0001034HP:0001034Hypermelanotic macule0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0001034HP:0001034Hypermelanotic macule0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0001034HP:0001034Hypermelanotic macule0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0001034HP:0001034Hypermelanotic macule0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0001034HP:0001034Hypermelanotic macule0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0001034HP:0001034Hypermelanotic macule0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0001034HP:0001034Hypermelanotic macule0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0001034HP:0001034Hypermelanotic macule0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0001034HP:0001034Hypermelanotic macule0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0001034HP:0001034Hypermelanotic macule0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0001034HP:0001034Hypermelanotic macule0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0001034HP:0001034Hypermelanotic macule0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent27
HP:0001034HP:0001034Hypermelanotic macule0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent17
HP:0001034HP:0001034Hypermelanotic macule0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent12
HP:0001034HP:0001034Hypermelanotic macule0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001034HP:0001034Hypermelanotic macule0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0001034HP:0001034Hypermelanotic macule0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0001034HP:0001034Hypermelanotic macule0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent26
HP:0001034HP:0001034Hypermelanotic macule0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0001034HP:0001034Hypermelanotic macule0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0001034HP:0001034Hypermelanotic macule0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0001034HP:0001034Hypermelanotic macule0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0001034HP:0001034Hypermelanotic macule0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0001034HP:0001034Hypermelanotic macule0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0001034HP:0001034Hypermelanotic macule0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040282 - Frequent162
HP:0001034HP:0001034Hypermelanotic macule0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0001034HP:0001034Hypermelanotic macule0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0001034HP:0001034Hypermelanotic macule0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0001034HP:0001034Hypermelanotic macule0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0001034HP:0001034Hypermelanotic macule0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0001034HP:0001034Hypermelanotic macule0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional6
HP:0001034HP:0001034Hypermelanotic macule0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0001034HP:0001034Hypermelanotic macule0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0001034HP:0001034Hypermelanotic macule0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0001034HP:0001034Hypermelanotic macule0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0001034HP:0001034Hypermelanotic macule0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0001034HP:0001034Hypermelanotic macule0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0001034HP:0001034Hypermelanotic macule0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0001034HP:0001034Hypermelanotic macule0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0001034HP:0001034Hypermelanotic macule0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0001034HP:0001034Hypermelanotic macule0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0001034HP:0001034Hypermelanotic macule0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0001034HP:0001034Hypermelanotic macule0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0001034HP:0001034Hypermelanotic macule0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0001034HP:0001034Hypermelanotic macule0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0001034HP:0001034Hypermelanotic macule0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0001034HP:0001034Hypermelanotic macule0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0001034HP:0001034Hypermelanotic macule0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0001034HP:0001034Hypermelanotic macule0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0001034HP:0001034Hypermelanotic macule0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0001034HP:0001034Hypermelanotic macule0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0001034HP:0001034Hypermelanotic macule0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent77
HP:0001034HP:0001034Hypermelanotic macule0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0001034HP:0001034Hypermelanotic macule0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0001034HP:0001034Hypermelanotic macule0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0001034HP:0001034Hypermelanotic macule0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0001034HP:0001034Hypermelanotic macule0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0001034HP:0001034Hypermelanotic macule0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0001034HP:0001034Hypermelanotic macule0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0001034HP:0001034Hypermelanotic macule0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndrome143
HP:0001034HP:0001034Hypermelanotic macule0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001034HP:0001034Hypermelanotic macule0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001034HP:0001034Hypermelanotic macule0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0001034HP:0001034Hypermelanotic macule0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0001034HP:0001034Hypermelanotic macule0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0001034HP:0001034Hypermelanotic macule0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0001034HP:0001034Hypermelanotic macule0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P274
HP:0001034HP:0001034Hypermelanotic macule0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0001034HP:0001034Hypermelanotic macule0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0001034HP:0001034Hypermelanotic macule0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0001034HP:0001034Hypermelanotic macule0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0001034HP:0001034Hypermelanotic macule0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0001034HP:0001034Hypermelanotic macule0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0001034HP:0001034Hypermelanotic macule0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0001034HP:0001034Hypermelanotic macule0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0001034HP:0001034Hypermelanotic macule0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 21
HP:0001034HP:0001034Hypermelanotic macule0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0001034HP:0001034Hypermelanotic macule0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0001034HP:0001034Hypermelanotic macule0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0001034HP:0001034Hypermelanotic macule0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001034HP:0001034Hypermelanotic macule0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent48
HP:0001034HP:0001034Hypermelanotic macule0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent238
HP:0001034HP:0001034Hypermelanotic macule0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent60
HP:0001034HP:0001034Hypermelanotic macule0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0001034HP:0001034Hypermelanotic macule0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0001034HP:0001034Hypermelanotic macule0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0001034HP:0001034Hypermelanotic macule0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0001034HP:0001034Hypermelanotic macule0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001034HP:0001034Hypermelanotic macule0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0001034HP:0001034Hypermelanotic macule0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0001034HP:0001034Hypermelanotic macule0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0001034HP:0001034Hypermelanotic macule0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0001034HP:0001034Hypermelanotic macule0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0001034HP:0001034Hypermelanotic macule0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0001034HP:0001034Hypermelanotic macule0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent1
HP:0001034HP:0001034Hypermelanotic macule0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0001034HP:0001034Hypermelanotic macule0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0001034HP:0001034Hypermelanotic macule0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent8
HP:0001034HP:0001034Hypermelanotic macule0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0001034HP:0001034Hypermelanotic macule0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0001034HP:0001034Hypermelanotic macule0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001034HP:0001034Hypermelanotic macule0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001034HP:0001034Hypermelanotic macule0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent40
HP:0001034HP:0001034Hypermelanotic macule0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0001034HP:0001034Hypermelanotic macule0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0001034HP:0001034Hypermelanotic macule0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0001034HP:0001034Hypermelanotic macule0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0001034HP:0001034Hypermelanotic macule0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0001034HP:0000957Cafe-au-lait spot1ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditaria20
HP:0001034HP:0000957Cafe-au-lait spot1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001034HP:0000957Cafe-au-lait spot1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0001034HP:0000957Cafe-au-lait spot1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0001034HP:0000957Cafe-au-lait spot1ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0001034HP:0000957Cafe-au-lait spot1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0001034HP:0000957Cafe-au-lait spot1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0001034HP:0000957Cafe-au-lait spot1ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0001034HP:0000957Cafe-au-lait spot1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0001034HP:0000957Cafe-au-lait spot1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0001034HP:0000957Cafe-au-lait spot1BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0001034HP:0001003Multiple lentigines1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0001034HP:0000957Cafe-au-lait spot1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0001034HP:0001003Multiple lentigines1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001034HP:0001003Multiple lentigines1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001034HP:0000957Cafe-au-lait spot1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001034HP:0000957Cafe-au-lait spot1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001034HP:0001003Multiple lentigines1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent276
HP:0001034HP:0000957Cafe-au-lait spot1BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0001034HP:0000957Cafe-au-lait spot1BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0001034HP:0000957Cafe-au-lait spot1BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0001034HP:0000957Cafe-au-lait spot1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0001034HP:0000957Cafe-au-lait spot1BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0001034HP:0000957Cafe-au-lait spot1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0001034HP:0000957Cafe-au-lait spot1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0001034HP:0000957Cafe-au-lait spot1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0001034HP:0000957Cafe-au-lait spot1CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0001034HP:0005605Large cafe-au-lait macules with irregular margins1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0001034HP:0005605Large cafe-au-lait macules with irregular margins1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0001034HP:0000957Cafe-au-lait spot1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0001034HP:0005605Large cafe-au-lait macules with irregular margins1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0001034HP:0005605Large cafe-au-lait macules with irregular margins1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0001034HP:0000957Cafe-au-lait spot1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0001034HP:0000957Cafe-au-lait spot1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001034HP:0000957Cafe-au-lait spot1CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0001034HP:0000957Cafe-au-lait spot1CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0001034HP:0007412Macular hyperpigmented dermopathy1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0001034HP:0000957Cafe-au-lait spot1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001034HP:0000957Cafe-au-lait spot1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001034HP:0000957Cafe-au-lait spot1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0001034HP:0000957Cafe-au-lait spot1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0001034HP:0000957Cafe-au-lait spot1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0001034HP:0001003Multiple lentigines1DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 23HP:0040282 - Frequent13
HP:0001034HP:0001003Multiple lentigines1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001034HP:0000957Cafe-au-lait spot1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0001034HP:0000957Cafe-au-lait spot1ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0001034HP:0000957Cafe-au-lait spot1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0001034HP:0000957Cafe-au-lait spot1FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0001034HP:0000957Cafe-au-lait spot1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0001034HP:0000957Cafe-au-lait spot1FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0001034HP:0000957Cafe-au-lait spot1FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0001034HP:0000957Cafe-au-lait spot1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0001034HP:0000957Cafe-au-lait spot1FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0001034HP:0000957Cafe-au-lait spot1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001034HP:0000957Cafe-au-lait spot1FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0001034HP:0000957Cafe-au-lait spot1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0001034HP:0000957Cafe-au-lait spot1FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0001034HP:0000957Cafe-au-lait spot1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0001034HP:0000957Cafe-au-lait spot1FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0001034HP:0000957Cafe-au-lait spot1FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0001034HP:0000957Cafe-au-lait spot1FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0001034HP:0000957Cafe-au-lait spot1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0001034HP:0000957Cafe-au-lait spot1FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0001034HP:0000957Cafe-au-lait spot1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L.53
HP:0001034HP:0000957Cafe-au-lait spot1FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0001034HP:0000957Cafe-au-lait spot1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0001034HP:0005605Large cafe-au-lait macules with irregular margins1GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040281 - Very frequent101
HP:0001034HP:0005605Large cafe-au-lait macules with irregular margins1GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0001034HP:0000957Cafe-au-lait spot1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001034HP:0000957Cafe-au-lait spot1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0001034HP:0000957Cafe-au-lait spot1H4C5 CL E G H83674790OMIM:619950
HP:0001034HP:0000957Cafe-au-lait spot1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0001034HP:0000957Cafe-au-lait spot1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0001034HP:0000957Cafe-au-lait spot1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0001034HP:0000957Cafe-au-lait spot1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0001034HP:0000957Cafe-au-lait spot1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0001034HP:0000957Cafe-au-lait spot1IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0001034HP:0000957Cafe-au-lait spot1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0001034HP:0000957Cafe-au-lait spot1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0001034HP:0000957Cafe-au-lait spot1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0001034HP:0000957Cafe-au-lait spot1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0001034HP:0000957Cafe-au-lait spot1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0001034HP:0000957Cafe-au-lait spot1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0001034HP:0000957Cafe-au-lait spot1KITLG CL E G H42546343OMIM:6199479
HP:0001034HP:0000957Cafe-au-lait spot1KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0001034HP:0001003Multiple lentigines1KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0001034HP:0000957Cafe-au-lait spot1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0001034HP:0000957Cafe-au-lait spot1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0001034HP:0000957Cafe-au-lait spot1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0001034HP:0001003Multiple lentigines1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0001034HP:0000957Cafe-au-lait spot1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001034HP:0000957Cafe-au-lait spot1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0001034HP:0000957Cafe-au-lait spot1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0001034HP:0000957Cafe-au-lait spot1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0001034HP:0001003Multiple lentigines1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0001034HP:0000957Cafe-au-lait spot1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0001034HP:0000957Cafe-au-lait spot1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001034HP:0000957Cafe-au-lait spot1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0001034HP:0001003Multiple lentigines1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0001034HP:0001003Multiple lentigines1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0001034HP:0000957Cafe-au-lait spot1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0001034HP:0000957Cafe-au-lait spot1MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0001034HP:0000957Cafe-au-lait spot1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001034HP:0001003Multiple lentigines1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001034HP:0000957Cafe-au-lait spot1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0001034HP:0000957Cafe-au-lait spot1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0001034HP:0000957Cafe-au-lait spot1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0001034HP:0005605Large cafe-au-lait macules with irregular margins1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0001034HP:0000957Cafe-au-lait spot1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0001034HP:0000957Cafe-au-lait spot1MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0001034HP:0000957Cafe-au-lait spot1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0001034HP:0000957Cafe-au-lait spot1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0001034HP:0000957Cafe-au-lait spot1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0001034HP:0000957Cafe-au-lait spot1NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0001034HP:0000957Cafe-au-lait spot1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0001034HP:0000957Cafe-au-lait spot1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040281 - Very frequent1952
HP:0001034HP:0000957Cafe-au-lait spot1NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0001034HP:0000957Cafe-au-lait spot1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0001034HP:0000957Cafe-au-lait spot1NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0001034HP:0000957Cafe-au-lait spot1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0001034HP:0000957Cafe-au-lait spot1NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0001034HP:0000957Cafe-au-lait spot1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0001034HP:0000957Cafe-au-lait spot1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001034HP:0001003Multiple lentigines1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001034HP:0000957Cafe-au-lait spot1PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0001034HP:0000957Cafe-au-lait spot1PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0001034HP:0000957Cafe-au-lait spot1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0001034HP:0000957Cafe-au-lait spot1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0001034HP:0001003Multiple lentigines1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040281 - Very frequent13
HP:0001034HP:0000957Cafe-au-lait spot1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040284 - Very rare13
HP:0001034HP:0000957Cafe-au-lait spot1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0001034HP:0000957Cafe-au-lait spot1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0001034HP:0000957Cafe-au-lait spot1PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0001034HP:0000957Cafe-au-lait spot1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0001034HP:0000957Cafe-au-lait spot1PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0001034HP:0000957Cafe-au-lait spot1PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0001034HP:0000957Cafe-au-lait spot1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0001034HP:0000957Cafe-au-lait spot1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040284 - Very rare134
HP:0001034HP:0001003Multiple lentigines1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040281 - Very frequent134
HP:0001034HP:0001003Multiple lentigines1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0001034HP:0000957Cafe-au-lait spot1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0001034HP:0000957Cafe-au-lait spot1PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0001034HP:0000957Cafe-au-lait spot1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0001034HP:0000957Cafe-au-lait spot1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0001034HP:0001003Multiple lentigines1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0001034HP:0000957Cafe-au-lait spot1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0001034HP:0001003Multiple lentigines1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent291
HP:0001034HP:0000957Cafe-au-lait spot1RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0001034HP:0000957Cafe-au-lait spot1RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0001034HP:0001003Multiple lentigines1RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0001034HP:0000957Cafe-au-lait spot1RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0001034HP:0000957Cafe-au-lait spot1RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0001034HP:0001003Multiple lentigines1RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0001034HP:0001003Multiple lentigines1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent212
HP:0001034HP:0000957Cafe-au-lait spot1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0001034HP:0000957Cafe-au-lait spot1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0001034HP:0000957Cafe-au-lait spot1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0001034HP:0000957Cafe-au-lait spot1REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0001034HP:0000957Cafe-au-lait spot1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0001034HP:0000957Cafe-au-lait spot1SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0001034HP:0000957Cafe-au-lait spot1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0001034HP:0000957Cafe-au-lait spot1SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0001034HP:0000957Cafe-au-lait spot1SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0001034HP:0000957Cafe-au-lait spot1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0001034HP:0000957Cafe-au-lait spot1SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0001034HP:0000957Cafe-au-lait spot1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0001034HP:0000957Cafe-au-lait spot1SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0001034HP:0000957Cafe-au-lait spot1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0001034HP:0001003Multiple lentigines1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001034HP:0000957Cafe-au-lait spot1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001034HP:0000957Cafe-au-lait spot1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040283 - Occasional
HP:0001034HP:0000957Cafe-au-lait spot1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040283 - Occasional
HP:0001034HP:0000957Cafe-au-lait spot1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0001034HP:0000957Cafe-au-lait spot1SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0001034HP:0000957Cafe-au-lait spot1SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P.274
HP:0001034HP:0000957Cafe-au-lait spot1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0001034HP:0001003Multiple lentigines1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0001034HP:0000957Cafe-au-lait spot1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0001034HP:0000957Cafe-au-lait spot1SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0001034HP:0000957Cafe-au-lait spot1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0001034HP:0000957Cafe-au-lait spot1STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2HP:0040283 - Occasional1
HP:0001034HP:0000957Cafe-au-lait spot1STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblastsHP:0040283 - Occasional1
HP:0001034HP:0001003Multiple lentigines1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040281 - Very frequent740
HP:0001034HP:0011369Mongolian blue spot1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001034HP:0000957Cafe-au-lait spot1TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0001034HP:0000957Cafe-au-lait spot1TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0001034HP:0000957Cafe-au-lait spot1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0001034HP:0000957Cafe-au-lait spot1TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2.
HP:0001034HP:0000957Cafe-au-lait spot1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0001034HP:0000957Cafe-au-lait spot1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0001034HP:0000957Cafe-au-lait spot1TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0001034HP:0000957Cafe-au-lait spot1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0001034HP:0000957Cafe-au-lait spot1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0001034HP:0000957Cafe-au-lait spot1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0001034HP:0000957Cafe-au-lait spot1UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0001034HP:0000957Cafe-au-lait spot1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0001034HP:0000957Cafe-au-lait spot1USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0001034HP:0000957Cafe-au-lait spot1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0001034HP:0000957Cafe-au-lait spot1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001034HP:0000957Cafe-au-lait spot1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001034HP:0000957Cafe-au-lait spot1XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0001034HP:0000957Cafe-au-lait spot1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0001034HP:0007565Multiple cafe-au-lait spots2ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditariaHP:0040282 - Frequent20
HP:0001034HP:0007565Multiple cafe-au-lait spots2AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0001034HP:0007565Multiple cafe-au-lait spots2AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0001034HP:0007565Multiple cafe-au-lait spots2ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0001034HP:0007565Multiple cafe-au-lait spots2ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0001034HP:0007565Multiple cafe-au-lait spots2BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0001034HP:0007429Few cafe-au-lait spots2BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001034HP:0007565Multiple cafe-au-lait spots2BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0001034HP:0007565Multiple cafe-au-lait spots2BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0001034HP:0007565Multiple cafe-au-lait spots2BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0001034HP:0007565Multiple cafe-au-lait spots2BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0001034HP:0007565Multiple cafe-au-lait spots2BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0001034HP:0007565Multiple cafe-au-lait spots2BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0001034HP:0007565Multiple cafe-au-lait spots2BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0001034HP:0007565Multiple cafe-au-lait spots2CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0001034HP:0007565Multiple cafe-au-lait spots2CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent
HP:0001034HP:0007565Multiple cafe-au-lait spots2ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0001034HP:0007565Multiple cafe-au-lait spots2FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0001034HP:0007565Multiple cafe-au-lait spots2GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0001034HP:0007429Few cafe-au-lait spots2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001034HP:0007565Multiple cafe-au-lait spots2IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent
HP:0001034HP:0007565Multiple cafe-au-lait spots2KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0001034HP:0007565Multiple cafe-au-lait spots2KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001034HP:0007565Multiple cafe-au-lait spots2KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0001034HP:0007565Multiple cafe-au-lait spots2MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0001034HP:0007565Multiple cafe-au-lait spots2MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0001034HP:0007565Multiple cafe-au-lait spots2MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0001034HP:0007565Multiple cafe-au-lait spots2MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0001034HP:0007565Multiple cafe-au-lait spots2MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent178
HP:0001034HP:0007565Multiple cafe-au-lait spots2MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0001034HP:0007565Multiple cafe-au-lait spots2MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0001034HP:0007565Multiple cafe-au-lait spots2MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0001034HP:0007565Multiple cafe-au-lait spots2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040281 - Very frequent1952
HP:0001034HP:0007565Multiple cafe-au-lait spots2NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0001034HP:0007565Multiple cafe-au-lait spots2NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent1952
HP:0001034HP:0007565Multiple cafe-au-lait spots2NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0001034HP:0007565Multiple cafe-au-lait spots2NF1 CL E G H47637765OMIM:193520Watson syndrome.1952
HP:0001034HP:0007565Multiple cafe-au-lait spots2PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0001034HP:0007565Multiple cafe-au-lait spots2PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040282 - Frequent531
HP:0001034HP:0007565Multiple cafe-au-lait spots2PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0001034HP:0007565Multiple cafe-au-lait spots2PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0001034HP:0007565Multiple cafe-au-lait spots2PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0001034HP:0007565Multiple cafe-au-lait spots2PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0001034HP:0007565Multiple cafe-au-lait spots2PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0001034HP:0007565Multiple cafe-au-lait spots2PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0001034HP:0007565Multiple cafe-au-lait spots2PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0001034HP:0007565Multiple cafe-au-lait spots2PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0001034HP:0007565Multiple cafe-au-lait spots2RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0001034HP:0007565Multiple cafe-au-lait spots2RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0001034HP:0007429Few cafe-au-lait spots2RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0001034HP:0007565Multiple cafe-au-lait spots2RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0001034HP:0007565Multiple cafe-au-lait spots2REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0001034HP:0007565Multiple cafe-au-lait spots2RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0001034HP:0007565Multiple cafe-au-lait spots2SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0001034HP:0007565Multiple cafe-au-lait spots2SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0001034HP:0007565Multiple cafe-au-lait spots2SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0001034HP:0007565Multiple cafe-au-lait spots2SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0001034HP:0007429Few cafe-au-lait spots2SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0001034HP:0007565Multiple cafe-au-lait spots2SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0001034HP:0007565Multiple cafe-au-lait spots2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0001034HP:0007565Multiple cafe-au-lait spots2TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent10
HP:0001034HP:0007565Multiple cafe-au-lait spots2TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent4
HP:0001034HP:0007565Multiple cafe-au-lait spots2TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040284 - Very rare140
HP:0001034HP:0007565Multiple cafe-au-lait spots2TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0001034HP:0007429Few cafe-au-lait spots2TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0001034HP:0007565Multiple cafe-au-lait spots2TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040283 - Occasional7
HP:0001034HP:0007565Multiple cafe-au-lait spots2UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0001034HP:0007565Multiple cafe-au-lait spots2USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001034HP:0007565Multiple cafe-au-lait spots2XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125


Genes (189) :ABCB6 ABCC9 ACP5 ACTB AKT1 ANAPC1 APC ARL6IP6 ATM ATP2A2 BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C1R C1S CBL CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEP57 CIB1 CLCN7 COL17A1 COL25A1 COPB1 CREBBP CTC1 CWC27 CYBA CYBB CYBC1 DDB2 DKC1 DSTYK EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR3 GJA1 GJB3 GJB4 GNA11 GNAQ GNAS GNB2 GPNMB H19-ICR H4C5 HMGA2 IFNG IGF1 IGF2 IL6 IL7 INSR KANSL1 KDM5C KDM6A KDM6B KDSR KIF1B KIT KITLG KLLN KMT2D KRAS KRT14 KRT5 LMNA LZTR1 MAD2L2 MAN1B1 MAP2K1 MAP2K2 MAPK1 MAX MED12 MEN1 MLH1 MMP2 MSH2 MSH6 MTOR NBN NCF1 NCF2 NCF4 NF1 NF2 NHP2 NOP10 NPM1 NRAS PALB2 PARN PCNT PDE11A PHIP PIK3CA PLAG1 PLEC PLXND1 PMS2 POFUT1 POGLUT1 PPP1CB PRKAR1A PSENEN PTEN PTPN11 RAD51 RAD51C RAF1 RBBP8 RERE RET REV3L RFWD3 RTEL1 SDHB SDHC SDHD SEC23B SET SETBP1 SH3PXD2B SHOC2 SKIC2 SKIC3 SLX4 SMARCA2 SMARCAD1 SMARCAL1 SOX10 SPRED1 ST3GAL5 STEAP3 STK11 SVBP TERC TERT TINF2 TMC6 TMC8 TMEM127 TNFRSF1A TOP3A TP63 TRIP13 TSC1 TSC2 TWIST2 TYMS UBE2T UBR1 USB1 USF3 VHL WASF1 WBP11 WRAP53 XPA XPC XRCC2 ZFHX4 ZMPSTE24

Diseases (153) :ORPHA:241 OMIM:615402 OMIM:619719 OMIM:607944 ORPHA:64755 ORPHA:201 ORPHA:744 OMIM:618625 ORPHA:99818 ORPHA:1556 OMIM:208900 ORPHA:100 ORPHA:218 OMIM:124200 OMIM:210900 ORPHA:125 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 ORPHA:500 ORPHA:84 OMIM:605724 OMIM:609054 ORPHA:1052 ORPHA:75392 OMIM:613563 ORPHA:652 ORPHA:397590 OMIM:614114 ORPHA:302 OMIM:618541 OMIM:619787 ORPHA:91411 OMIM:619255 OMIM:180849 ORPHA:1775 ORPHA:166035 OMIM:250410 ORPHA:379 ORPHA:910 ORPHA:101003 OMIM:270750 ORPHA:90322 ORPHA:90321 OMIM:278800 OMIM:268300 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 OMIM:614083 ORPHA:53271 ORPHA:317 ORPHA:624 ORPHA:562 OMIM:174800 ORPHA:2762 OMIM:619503 OMIM:617920 OMIM:180860 OMIM:619950 OMIM:613254 ORPHA:73272 OMIM:148000 OMIM:246200 ORPHA:363958 ORPHA:363965 ORPHA:85279 OMIM:147920 OMIM:618505 OMIM:171300 ORPHA:79455 OMIM:154800 OMIM:619947 OMIM:145250 ORPHA:79399 ORPHA:79397 ORPHA:79145 ORPHA:740 OMIM:616564 OMIM:605275 ORPHA:397941 OMIM:615280 ORPHA:638 OMIM:619087 OMIM:300895 OMIM:131100 OMIM:276300 OMIM:259600 OMIM:619096 OMIM:619097 ORPHA:457485 OMIM:616638 OMIM:251260 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 OMIM:193520 OMIM:101000 OMIM:613224 OMIM:610832 ORPHA:2637 OMIM:210720 ORPHA:1359 OMIM:617991 ORPHA:589905 ORPHA:60040 ORPHA:79401 ORPHA:570 OMIM:619101 OMIM:617506 OMIM:160980 ORPHA:109 OMIM:151100 OMIM:611554 OMIM:611553 OMIM:606744 OMIM:616975 OMIM:618106 ORPHA:436151 OMIM:249420 OMIM:607721 ORPHA:84064 OMIM:222470 OMIM:613951 OMIM:601358 OMIM:129200 OMIM:242900 ORPHA:1830 OMIM:611584 OMIM:611431 ORPHA:137605 OMIM:609056 OMIM:615234 ORPHA:300298 OMIM:175200 ORPHA:2869 OMIM:618569 ORPHA:32960 OMIM:618097 ORPHA:69085 OMIM:617598 OMIM:191100 ORPHA:1807 OMIM:243800 OMIM:618707 OMIM:619227
 

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