Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skin morphology (HP:0011121)help
Parent Node:
expand
Localized skin lesion (HP:0011355)help
..Starting node
..expand
Macule (HP:0012733)help
Term ID: 12733
Name: Macule
Synonym: Flat, discolored area of skin; Flat, discoloured area of skin
Definition: A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.
Comments:
Reference: HP:0012733
Genes and Diseases:
 
       Child Nodes:
........expandHypermelanotic macule (HP:0001034) help
................... HP:0001003 Multiple lentigines
................... HP:0005605 Large cafe-au-lait macules with irregular margins
................... HP:0007412 Macular hyperpigmented dermopathy
................... HP:0011369 Mongolian blue spot
........expandHyperpigmented/hypopigmented macules (HP:0007441) help
................... HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules
........expandHypomelanotic macule (HP:0009719) help
................... HP:0007449 Confetti-like hypopigmented macules
................... HP:0030679 Ash-leaf spot
........expandErythematous macule (HP:0025475) help

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) 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:0012733HP:0012733Macule0ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditariaHP:0040281 - Very frequent20
HP:0012733HP:0012733Macule0ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0012733HP:0012733Macule0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0012733HP:0012733Macule0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0012733HP:0012733Macule0ACTB CL E G H60132ORPHA:64755Becker nevus syndrome72
HP:0012733HP:0012733Macule0ADAR CL E G H103225ORPHA:41Dyschromatosis symmetrica hereditariaHP:0040281 - Very frequent116
HP:0012733HP:0012733Macule0ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1116
HP:0012733HP:0012733Macule0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0012733HP:0012733Macule0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0012733HP:0012733Macule0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0012733HP:0012733Macule0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0012733HP:0012733Macule0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0012733HP:0012733Macule0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0012733HP:0012733Macule0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0012733HP:0012733Macule0ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040283 - Occasional86
HP:0012733HP:0012733Macule0ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0012733HP:0012733Macule0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0012733HP:0012733Macule0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0012733HP:0012733Macule0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0012733HP:0012733Macule0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0012733HP:0012733Macule0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0012733HP:0012733Macule0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0012733HP:0012733Macule0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0012733HP:0012733Macule0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0012733HP:0012733Macule0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0012733HP:0012733Macule0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0012733HP:0012733Macule0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0012733HP:0012733Macule0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0012733HP:0012733Macule0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0012733HP:0012733Macule0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0012733HP:0012733Macule0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0012733HP:0012733Macule0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0012733HP:0012733Macule0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0012733HP:0012733Macule0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0012733HP:0012733Macule0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0012733HP:0012733Macule0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0012733HP:0012733Macule0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0012733HP:0012733Macule0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0012733HP:0012733Macule0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0012733HP:0012733Macule0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0012733HP:0012733Macule0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0012733HP:0012733Macule0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0012733HP:0012733Macule0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0012733HP:0012733Macule0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0012733HP:0012733Macule0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0012733HP:0012733Macule0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0012733HP:0012733Macule0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0012733HP:0012733Macule0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0012733HP:0012733Macule0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0012733HP:0012733Macule0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0012733HP:0012733Macule0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndromeHP:0040283 - Occasional4
HP:0012733HP:0012733Macule0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent160
HP:0012733HP:0012733Macule0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0012733HP:0012733Macule0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0012733HP:0012733Macule0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0012733HP:0012733Macule0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0012733HP:0012733Macule0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0012733HP:0012733Macule0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0012733HP:0012733Macule0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent65
HP:0012733HP:0012733Macule0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0012733HP:0012733Macule0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0012733HP:0012733Macule0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040281 - Very frequent62
HP:0012733HP:0012733Macule0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0012733HP:0012733Macule0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0012733HP:0012733Macule0EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040283 - Occasional3
HP:0012733HP:0012733Macule0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0012733HP:0012733Macule0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0012733HP:0012733Macule0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0012733HP:0012733Macule0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0012733HP:0012733Macule0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0012733HP:0012733Macule0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0012733HP:0012733Macule0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0012733HP:0012733Macule0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0012733HP:0012733Macule0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0012733HP:0012733Macule0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0012733HP:0012733Macule0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0012733HP:0012733Macule0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0012733HP:0012733Macule0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0012733HP:0012733Macule0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0012733HP:0012733Macule0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0012733HP:0012733Macule0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0012733HP:0012733Macule0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0012733HP:0012733Macule0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0012733HP:0012733Macule0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0012733HP:0012733Macule0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0012733HP:0012733Macule0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0012733HP:0012733Macule0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0012733HP:0012733Macule0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0012733HP:0012733Macule0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0012733HP:0012733Macule0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0012733HP:0012733Macule0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0012733HP:0012733Macule0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0012733HP:0012733Macule0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0012733HP:0012733Macule0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0012733HP:0012733Macule0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0012733HP:0012733Macule0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0012733HP:0012733Macule0FGFR3 CL E G H22613690ORPHA:53271Muenke syndrome145
HP:0012733HP:0012733Macule0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0012733HP:0012733Macule0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent68
HP:0012733HP:0012733Macule0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent74
HP:0012733HP:0012733Macule0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent12
HP:0012733HP:0012733Macule0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0012733HP:0012733Macule0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammei7
HP:0012733HP:0012733Macule0GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0012733HP:0012733Macule0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0012733HP:0012733Macule0GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasiaHP:0040283 - Occasional101
HP:0012733HP:0012733Macule0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012733HP:0012733Macule0GPNMB CL E G H104574462OMIM:617920Amyloidosis, primary localized cutaneous, 3
HP:0012733HP:0012733Macule0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0012733HP:0012733Macule0H4C5 CL E G H83674790OMIM:619950
HP:0012733HP:0012733Macule0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040281 - Very frequent4
HP:0012733HP:0012733Macule0HLA-DQB1 CL E G H31194944ORPHA:703Bullous pemphigoidHP:0040281 - Very frequent
HP:0012733HP:0012733Macule0HLA-DRB1 CL E G H31234948ORPHA:703Bullous pemphigoidHP:0040281 - Very frequent2
HP:0012733HP:0012733Macule0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0012733HP:0012733Macule0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0012733HP:0012733Macule0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0012733HP:0012733Macule0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0012733HP:0012733Macule0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0012733HP:0012733Macule0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0012733HP:0012733Macule0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0012733HP:0012733Macule0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040281 - Very frequent8
HP:0012733HP:0012733Macule0IL6 CL E G H35696018OMIM:148000Kaposi sarcoma, susceptibility to2
HP:0012733HP:0012733Macule0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0012733HP:0012733Macule0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0012733HP:0012733Macule0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0012733HP:0012733Macule0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0012733HP:0012733Macule0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0012733HP:0012733Macule0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0012733HP:0012733Macule0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0012733HP:0012733Macule0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0012733HP:0012733Macule0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent4
HP:0012733HP:0012733Macule0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0012733HP:0012733Macule0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0012733HP:0012733Macule0KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous327
HP:0012733HP:0012733Macule0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040282 - Frequent327
HP:0012733HP:0012733Macule0KITLG CL E G H42546343OMIM:6199479
HP:0012733HP:0012733Macule0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0012733HP:0012733Macule0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0012733HP:0012733Macule0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0012733HP:0012733Macule0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0012733HP:0012733Macule0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0012733HP:0012733Macule0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0012733HP:0012733Macule0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0012733HP:0012733Macule0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos disease173
HP:0012733HP:0012733Macule0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0012733HP:0012733Macule0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0012733HP:0012733Macule0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0012733HP:0012733Macule0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0012733HP:0012733Macule0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0012733HP:0012733Macule0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0012733HP:0012733Macule0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0012733HP:0012733Macule0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0012733HP:0012733Macule0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0012733HP:0012733Macule0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0012733HP:0012733Macule0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0012733HP:0012733Macule0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0012733HP:0012733Macule0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0012733HP:0012733Macule0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0012733HP:0012733Macule0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0012733HP:0012733Macule0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0012733HP:0012733Macule0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0012733HP:0012733Macule0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0012733HP:0012733Macule0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0012733HP:0012733Macule0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0012733HP:0012733Macule0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0012733HP:0012733Macule0MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0012733HP:0012733Macule0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0012733HP:0012733Macule0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0012733HP:0012733Macule0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0012733HP:0012733Macule0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0012733HP:0012733Macule0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0012733HP:0012733Macule0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0012733HP:0012733Macule0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0012733HP:0012733Macule0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0012733HP:0012733Macule0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0012733HP:0012733Macule0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0012733HP:0012733Macule0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0012733HP:0012733Macule0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0012733HP:0012733Macule0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0012733HP:0012733Macule0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0012733HP:0012733Macule0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0012733HP:0012733Macule0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent27
HP:0012733HP:0012733Macule0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0012733HP:0012733Macule0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent17
HP:0012733HP:0012733Macule0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent12
HP:0012733HP:0012733Macule0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0012733HP:0012733Macule0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0012733HP:0012733Macule0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0012733HP:0012733Macule0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent26
HP:0012733HP:0012733Macule0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0012733HP:0012733Macule0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0012733HP:0012733Macule0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0012733HP:0012733Macule0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0012733HP:0012733Macule0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0012733HP:0012733Macule0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0012733HP:0012733Macule0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0012733HP:0012733Macule0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0012733HP:0012733Macule0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0012733HP:0012733Macule0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0012733HP:0012733Macule0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0012733HP:0012733Macule0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0012733HP:0012733Macule0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0012733HP:0012733Macule0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos disease2
HP:0012733HP:0012733Macule0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0012733HP:0012733Macule0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos disease6
HP:0012733HP:0012733Macule0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0012733HP:0012733Macule0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0012733HP:0012733Macule0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0012733HP:0012733Macule0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0012733HP:0012733Macule0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0012733HP:0012733Macule0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0012733HP:0012733Macule0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0012733HP:0012733Macule0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos disease2
HP:0012733HP:0012733Macule0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0012733HP:0012733Macule0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0012733HP:0012733Macule0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0012733HP:0012733Macule0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0012733HP:0012733Macule0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0012733HP:0012733Macule0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0012733HP:0012733Macule0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0012733HP:0012733Macule0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0012733HP:0012733Macule0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0012733HP:0012733Macule0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0012733HP:0012733Macule0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0012733HP:0012733Macule0RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040283 - Occasional88
HP:0012733HP:0012733Macule0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0012733HP:0012733Macule0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0012733HP:0012733Macule0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0012733HP:0012733Macule0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0012733HP:0012733Macule0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0012733HP:0012733Macule0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0012733HP:0012733Macule0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent77
HP:0012733HP:0012733Macule0SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria1
HP:0012733HP:0012733Macule0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0012733HP:0012733Macule0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0012733HP:0012733Macule0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0012733HP:0012733Macule0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0012733HP:0012733Macule0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0012733HP:0012733Macule0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0012733HP:0012733Macule0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0012733HP:0012733Macule0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndrome143
HP:0012733HP:0012733Macule0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0012733HP:0012733Macule0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0012733HP:0012733Macule0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0012733HP:0012733Macule0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0012733HP:0012733Macule0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0012733HP:0012733Macule0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0012733HP:0012733Macule0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0012733HP:0012733Macule0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P274
HP:0012733HP:0012733Macule0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0012733HP:0012733Macule0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0012733HP:0012733Macule0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0012733HP:0012733Macule0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0012733HP:0012733Macule0SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040282 - Frequent19
HP:0012733HP:0012733Macule0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0012733HP:0012733Macule0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0012733HP:0012733Macule0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0012733HP:0012733Macule0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0012733HP:0012733Macule0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0012733HP:0012733Macule0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0012733HP:0012733Macule0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 21
HP:0012733HP:0012733Macule0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0012733HP:0012733Macule0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0012733HP:0012733Macule0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040281 - Very frequent740
HP:0012733HP:0012733Macule0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012733HP:0012733Macule0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent48
HP:0012733HP:0012733Macule0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent238
HP:0012733HP:0012733Macule0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndromeHP:0040283 - Occasional44
HP:0012733HP:0012733Macule0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent60
HP:0012733HP:0012733Macule0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0012733HP:0012733Macule0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0012733HP:0012733Macule0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0012733HP:0012733Macule0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040281 - Very frequent131
HP:0012733HP:0012733Macule0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0012733HP:0012733Macule0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0012733HP:0012733Macule0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0012733HP:0012733Macule0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0012733HP:0012733Macule0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0012733HP:0012733Macule0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0012733HP:0012733Macule0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0012733HP:0012733Macule0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0012733HP:0012733Macule0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0012733HP:0012733Macule0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0012733HP:0012733Macule0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0012733HP:0012733Macule0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent1
HP:0012733HP:0012733Macule0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0012733HP:0012733Macule0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0012733HP:0012733Macule0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0012733HP:0012733Macule0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent8
HP:0012733HP:0012733Macule0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0012733HP:0012733Macule0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0012733HP:0012733Macule0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012733HP:0012733Macule0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0012733HP:0012733Macule0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent40
HP:0012733HP:0012733Macule0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0012733HP:0012733Macule0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0012733HP:0012733Macule0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0012733HP:0012733Macule0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0012733HP:0012733Macule0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0012733HP:0001034Hypermelanotic macule1ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditariaHP:0040281 - Very frequent20
HP:0012733HP:0001034Hypermelanotic macule1ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0012733HP:0020073Hypopigmented macule1ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0012733HP:0001034Hypermelanotic macule1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0012733HP:0001034Hypermelanotic macule1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0012733HP:0001034Hypermelanotic macule1ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040281 - Very frequent72
HP:0012733HP:0007441Hyperpigmented/hypopigmented macules1ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1.116
HP:0012733HP:0001034Hypermelanotic macule1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0012733HP:0001034Hypermelanotic macule1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0012733HP:0001034Hypermelanotic macule1ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0012733HP:0001034Hypermelanotic macule1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0012733HP:0001034Hypermelanotic macule1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0012733HP:0001034Hypermelanotic macule1ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0012733HP:0001034Hypermelanotic macule1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0012733HP:0001034Hypermelanotic macule1ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040281 - Very frequent86
HP:0012733HP:0001034Hypermelanotic macule1ATP2A2 CL E G H488812OMIM:124200Darier-White diseaseHP:0040283 - Occasional86
HP:0012733HP:0001034Hypermelanotic macule1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0012733HP:0001034Hypermelanotic macule1BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0012733HP:0001034Hypermelanotic macule1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0012733HP:0001034Hypermelanotic macule1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0012733HP:0001034Hypermelanotic macule1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0012733HP:0001034Hypermelanotic macule1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0012733HP:0001034Hypermelanotic macule1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0012733HP:0001034Hypermelanotic macule1BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0012733HP:0001034Hypermelanotic macule1BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0012733HP:0001034Hypermelanotic macule1BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0012733HP:0001034Hypermelanotic macule1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0012733HP:0001034Hypermelanotic macule1BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0012733HP:0001034Hypermelanotic macule1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0012733HP:0001034Hypermelanotic macule1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0012733HP:0001034Hypermelanotic macule1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0012733HP:0001034Hypermelanotic macule1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent15
HP:0012733HP:0001034Hypermelanotic macule1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent7
HP:0012733HP:0001034Hypermelanotic macule1CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0012733HP:0001034Hypermelanotic macule1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0012733HP:0020073Hypopigmented macule1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0012733HP:0020073Hypopigmented macule1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0012733HP:0001034Hypermelanotic macule1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0012733HP:0020073Hypopigmented macule1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0012733HP:0001034Hypermelanotic macule1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0012733HP:0001034Hypermelanotic macule1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0012733HP:0020073Hypopigmented macule1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0012733HP:0020073Hypopigmented macule1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0012733HP:0001034Hypermelanotic macule1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0012733HP:0001034Hypermelanotic macule1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0012733HP:0001034Hypermelanotic macule1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0012733HP:0001034Hypermelanotic macule1CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0012733HP:0001034Hypermelanotic macule1CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0012733HP:0001034Hypermelanotic macule1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0012733HP:0001034Hypermelanotic macule1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0012733HP:0001034Hypermelanotic macule1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0012733HP:0001034Hypermelanotic macule1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0012733HP:0001034Hypermelanotic macule1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent160
HP:0012733HP:0001034Hypermelanotic macule1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0012733HP:0001034Hypermelanotic macule1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0012733HP:0001034Hypermelanotic macule1CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0012733HP:0001034Hypermelanotic macule1CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0012733HP:0001034Hypermelanotic macule1CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0012733HP:0001034Hypermelanotic macule1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0012733HP:0001034Hypermelanotic macule1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent65
HP:0012733HP:0001034Hypermelanotic macule1DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0012733HP:0001034Hypermelanotic macule1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0012733HP:0020073Hypopigmented macule1ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0012733HP:0001034Hypermelanotic macule1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0012733HP:0020073Hypopigmented macule1EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0012733HP:0001034Hypermelanotic macule1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0012733HP:0001034Hypermelanotic macule1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0012733HP:0001034Hypermelanotic macule1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0012733HP:0001034Hypermelanotic macule1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0012733HP:0001034Hypermelanotic macule1ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0012733HP:0001034Hypermelanotic macule1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0012733HP:0001034Hypermelanotic macule1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0012733HP:0001034Hypermelanotic macule1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0012733HP:0001034Hypermelanotic macule1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0012733HP:0001034Hypermelanotic macule1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0012733HP:0001034Hypermelanotic macule1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0012733HP:0001034Hypermelanotic macule1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0012733HP:0001034Hypermelanotic macule1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0012733HP:0001034Hypermelanotic macule1FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0012733HP:0001034Hypermelanotic macule1FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0012733HP:0001034Hypermelanotic macule1FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0012733HP:0001034Hypermelanotic macule1FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0012733HP:0020073Hypopigmented macule1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0012733HP:0001034Hypermelanotic macule1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0012733HP:0001034Hypermelanotic macule1FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0012733HP:0001034Hypermelanotic macule1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0012733HP:0001034Hypermelanotic macule1FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0012733HP:0001034Hypermelanotic macule1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0012733HP:0001034Hypermelanotic macule1FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0012733HP:0001034Hypermelanotic macule1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0012733HP:0001034Hypermelanotic macule1FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0012733HP:0001034Hypermelanotic macule1FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0012733HP:0001034Hypermelanotic macule1FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0012733HP:0001034Hypermelanotic macule1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0012733HP:0001034Hypermelanotic macule1FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0012733HP:0001034Hypermelanotic macule1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0012733HP:0001034Hypermelanotic macule1FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0012733HP:0001034Hypermelanotic macule1FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040283 - Occasional145
HP:0012733HP:0001034Hypermelanotic macule1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent68
HP:0012733HP:0001034Hypermelanotic macule1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent74
HP:0012733HP:0001034Hypermelanotic macule1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent12
HP:0012733HP:0001034Hypermelanotic macule1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0012733HP:0001034Hypermelanotic macule1GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040281 - Very frequent7
HP:0012733HP:0001034Hypermelanotic macule1GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0012733HP:0001034Hypermelanotic macule1GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0012733HP:0001034Hypermelanotic macule1GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasiaHP:0040283 - Occasional101
HP:0012733HP:0001034Hypermelanotic macule1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012733HP:0001034Hypermelanotic macule1GPNMB CL E G H104574462OMIM:617920Amyloidosis, primary localized cutaneous, 3.
HP:0012733HP:0001034Hypermelanotic macule1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0012733HP:0001034Hypermelanotic macule1H4C5 CL E G H83674790OMIM:619950
HP:0012733HP:0001034Hypermelanotic macule1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0012733HP:0020073Hypopigmented macule1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0012733HP:0001034Hypermelanotic macule1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0012733HP:0020073Hypopigmented macule1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0012733HP:0001034Hypermelanotic macule1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0012733HP:0001034Hypermelanotic macule1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0012733HP:0001034Hypermelanotic macule1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0012733HP:0001034Hypermelanotic macule1IL6 CL E G H35696018OMIM:148000Kaposi sarcoma, susceptibility to.2
HP:0012733HP:0001034Hypermelanotic macule1IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0012733HP:0001034Hypermelanotic macule1INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0012733HP:0001034Hypermelanotic macule1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0012733HP:0001034Hypermelanotic macule1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0012733HP:0001034Hypermelanotic macule1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0012733HP:0001034Hypermelanotic macule1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0012733HP:0001034Hypermelanotic macule1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0012733HP:0001034Hypermelanotic macule1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent4
HP:0012733HP:0001034Hypermelanotic macule1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0012733HP:0001034Hypermelanotic macule1KIT CL E G H38156342ORPHA:79455Cutaneous mastocytomaHP:0040283 - Occasional327
HP:0012733HP:0001034Hypermelanotic macule1KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous.327
HP:0012733HP:0001034Hypermelanotic macule1KITLG CL E G H42546343OMIM:6199479
HP:0012733HP:0001034Hypermelanotic macule1KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0012733HP:0001034Hypermelanotic macule1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0012733HP:0001034Hypermelanotic macule1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0012733HP:0001034Hypermelanotic macule1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0012733HP:0001034Hypermelanotic macule1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0012733HP:0020073Hypopigmented macule1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0012733HP:0020073Hypopigmented macule1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0012733HP:0001034Hypermelanotic macule1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0012733HP:0001034Hypermelanotic macule1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0012733HP:0020073Hypopigmented macule1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0012733HP:0020073Hypopigmented macule1KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare173
HP:0012733HP:0001034Hypermelanotic macule1KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional173
HP:0012733HP:0020073Hypopigmented macule1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0012733HP:0007441Hyperpigmented/hypopigmented macules1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0012733HP:0001034Hypermelanotic macule1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0012733HP:0001034Hypermelanotic macule1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0012733HP:0001034Hypermelanotic macule1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0012733HP:0001034Hypermelanotic macule1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0012733HP:0001034Hypermelanotic macule1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0012733HP:0001034Hypermelanotic macule1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0012733HP:0001034Hypermelanotic macule1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0012733HP:0001034Hypermelanotic macule1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0012733HP:0001034Hypermelanotic macule1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0012733HP:0001034Hypermelanotic macule1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0012733HP:0001034Hypermelanotic macule1MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0012733HP:0001034Hypermelanotic macule1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0012733HP:0001034Hypermelanotic macule1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0012733HP:0001034Hypermelanotic macule1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0012733HP:0001034Hypermelanotic macule1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0012733HP:0020073Hypopigmented macule1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0012733HP:0001034Hypermelanotic macule1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0012733HP:0020073Hypopigmented macule1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0012733HP:0001034Hypermelanotic macule1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0012733HP:0001034Hypermelanotic macule1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0012733HP:0001034Hypermelanotic macule1MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0012733HP:0001034Hypermelanotic macule1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0012733HP:0001034Hypermelanotic macule1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0012733HP:0001034Hypermelanotic macule1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0012733HP:0001034Hypermelanotic macule1NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0012733HP:0001034Hypermelanotic macule1NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0012733HP:0001034Hypermelanotic macule1NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0012733HP:0001034Hypermelanotic macule1NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0012733HP:0001034Hypermelanotic macule1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0012733HP:0001034Hypermelanotic macule1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0012733HP:0001034Hypermelanotic macule1NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0012733HP:0001034Hypermelanotic macule1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0012733HP:0020073Hypopigmented macule1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0012733HP:0001034Hypermelanotic macule1NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0012733HP:0001034Hypermelanotic macule1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0012733HP:0001034Hypermelanotic macule1NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0012733HP:0001034Hypermelanotic macule1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0012733HP:0001034Hypermelanotic macule1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent27
HP:0012733HP:0020073Hypopigmented macule1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0012733HP:0001034Hypermelanotic macule1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent17
HP:0012733HP:0001034Hypermelanotic macule1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent12
HP:0012733HP:0001034Hypermelanotic macule1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0012733HP:0001034Hypermelanotic macule1PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0012733HP:0001034Hypermelanotic macule1PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0012733HP:0001034Hypermelanotic macule1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent26
HP:0012733HP:0001034Hypermelanotic macule1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0012733HP:0001034Hypermelanotic macule1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0012733HP:0001034Hypermelanotic macule1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0012733HP:0001034Hypermelanotic macule1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0012733HP:0001034Hypermelanotic macule1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0012733HP:0007441Hyperpigmented/hypopigmented macules1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0012733HP:0001034Hypermelanotic macule1PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0012733HP:0001034Hypermelanotic macule1PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040282 - Frequent162
HP:0012733HP:0001034Hypermelanotic macule1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0012733HP:0020073Hypopigmented macule1PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0012733HP:0001034Hypermelanotic macule1PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0012733HP:0001034Hypermelanotic macule1PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0012733HP:0001034Hypermelanotic macule1PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0012733HP:0001034Hypermelanotic macule1POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0012733HP:0020073Hypopigmented macule1POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0012733HP:0020073Hypopigmented macule1POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0012733HP:0001034Hypermelanotic macule1POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional6
HP:0012733HP:0020073Hypopigmented macule1POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare6
HP:0012733HP:0001034Hypermelanotic macule1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0012733HP:0001034Hypermelanotic macule1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0012733HP:0001034Hypermelanotic macule1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0012733HP:0025475Erythematous macule1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0012733HP:0001034Hypermelanotic macule1PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0012733HP:0020073Hypopigmented macule1PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0012733HP:0001034Hypermelanotic macule1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0012733HP:0001034Hypermelanotic macule1PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0012733HP:0001034Hypermelanotic macule1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0012733HP:0001034Hypermelanotic macule1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0012733HP:0001034Hypermelanotic macule1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0012733HP:0001034Hypermelanotic macule1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0012733HP:0001034Hypermelanotic macule1RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0012733HP:0001034Hypermelanotic macule1RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0012733HP:0001034Hypermelanotic macule1RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0012733HP:0001034Hypermelanotic macule1RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0012733HP:0001034Hypermelanotic macule1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0012733HP:0020073Hypopigmented macule1RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0012733HP:0001034Hypermelanotic macule1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0012733HP:0001034Hypermelanotic macule1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0012733HP:0001034Hypermelanotic macule1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0012733HP:0001034Hypermelanotic macule1REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0012733HP:0001034Hypermelanotic macule1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0012733HP:0001034Hypermelanotic macule1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent77
HP:0012733HP:0007441Hyperpigmented/hypopigmented macules1SASH1 CL E G H2332819182OMIM:127500Dyschromatosis universalis hereditaria.1
HP:0012733HP:0001034Hypermelanotic macule1SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0012733HP:0001034Hypermelanotic macule1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0012733HP:0001034Hypermelanotic macule1SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0012733HP:0001034Hypermelanotic macule1SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0012733HP:0001034Hypermelanotic macule1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0012733HP:0001034Hypermelanotic macule1SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0012733HP:0001034Hypermelanotic macule1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0012733HP:0001034Hypermelanotic macule1SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndrome143
HP:0012733HP:0001034Hypermelanotic macule1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0012733HP:0001034Hypermelanotic macule1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0012733HP:0001034Hypermelanotic macule1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0012733HP:0001034Hypermelanotic macule1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0012733HP:0001034Hypermelanotic macule1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0012733HP:0001034Hypermelanotic macule1SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0012733HP:0001034Hypermelanotic macule1SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P274
HP:0012733HP:0001034Hypermelanotic macule1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0012733HP:0001034Hypermelanotic macule1SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0012733HP:0001034Hypermelanotic macule1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0012733HP:0001034Hypermelanotic macule1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0012733HP:0001034Hypermelanotic macule1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0012733HP:0020073Hypopigmented macule1SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0012733HP:0001034Hypermelanotic macule1SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0012733HP:0001034Hypermelanotic macule1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0012733HP:0001034Hypermelanotic macule1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0012733HP:0001034Hypermelanotic macule1STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 21
HP:0012733HP:0001034Hypermelanotic macule1STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0012733HP:0001034Hypermelanotic macule1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0012733HP:0001034Hypermelanotic macule1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0012733HP:0001034Hypermelanotic macule1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012733HP:0001034Hypermelanotic macule1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent48
HP:0012733HP:0001034Hypermelanotic macule1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent238
HP:0012733HP:0001034Hypermelanotic macule1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent60
HP:0012733HP:0001034Hypermelanotic macule1TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0012733HP:0001034Hypermelanotic macule1TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0012733HP:0001034Hypermelanotic macule1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0012733HP:0001034Hypermelanotic macule1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0012733HP:0001034Hypermelanotic macule1TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0012733HP:0001034Hypermelanotic macule1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0012733HP:0001034Hypermelanotic macule1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0012733HP:0001034Hypermelanotic macule1TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0012733HP:0020073Hypopigmented macule1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0012733HP:0001034Hypermelanotic macule1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0012733HP:0020073Hypopigmented macule1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0012733HP:0020073Hypopigmented macule1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0012733HP:0001034Hypermelanotic macule1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0012733HP:0020073Hypopigmented macule1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0012733HP:0001034Hypermelanotic macule1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0012733HP:0001034Hypermelanotic macule1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent1
HP:0012733HP:0001034Hypermelanotic macule1UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0012733HP:0001034Hypermelanotic macule1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0012733HP:0001034Hypermelanotic macule1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent8
HP:0012733HP:0001034Hypermelanotic macule1USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0012733HP:0001034Hypermelanotic macule1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0012733HP:0001034Hypermelanotic macule1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012733HP:0001034Hypermelanotic macule1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0012733HP:0001034Hypermelanotic macule1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent40
HP:0012733HP:0001034Hypermelanotic macule1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0012733HP:0001034Hypermelanotic macule1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0012733HP:0001034Hypermelanotic macule1XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0012733HP:0001034Hypermelanotic macule1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0012733HP:0001034Hypermelanotic macule1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0012733HP:0000957Cafe-au-lait spot2ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditaria20
HP:0012733HP:0000957Cafe-au-lait spot2ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0012733HP:0000957Cafe-au-lait spot2AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0012733HP:0000957Cafe-au-lait spot2AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0012733HP:0000957Cafe-au-lait spot2ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0012733HP:0000957Cafe-au-lait spot2APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0012733HP:0000957Cafe-au-lait spot2ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0012733HP:0000957Cafe-au-lait spot2ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0012733HP:0000957Cafe-au-lait spot2ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0012733HP:0000957Cafe-au-lait spot2BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0012733HP:0000957Cafe-au-lait spot2BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0012733HP:0000957Cafe-au-lait spot2BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0012733HP:0001003Multiple lentigines2BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0012733HP:0001003Multiple lentigines2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0012733HP:0001003Multiple lentigines2BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0012733HP:0000957Cafe-au-lait spot2BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0012733HP:0000957Cafe-au-lait spot2BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0012733HP:0001003Multiple lentigines2BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent276
HP:0012733HP:0000957Cafe-au-lait spot2BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0012733HP:0000957Cafe-au-lait spot2BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0012733HP:0000957Cafe-au-lait spot2BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0012733HP:0000957Cafe-au-lait spot2BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0012733HP:0000957Cafe-au-lait spot2BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0012733HP:0000957Cafe-au-lait spot2BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0012733HP:0000957Cafe-au-lait spot2BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0012733HP:0000957Cafe-au-lait spot2BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0012733HP:0000957Cafe-au-lait spot2CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0012733HP:0005605Large cafe-au-lait macules with irregular margins2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0012733HP:0007449Confetti-like hypopigmented macules2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0012733HP:0007449Confetti-like hypopigmented macules2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0012733HP:0005605Large cafe-au-lait macules with irregular margins2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0012733HP:0007449Confetti-like hypopigmented macules2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0012733HP:0000957Cafe-au-lait spot2CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0012733HP:0007449Confetti-like hypopigmented macules2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0012733HP:0005605Large cafe-au-lait macules with irregular margins2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0012733HP:0007449Confetti-like hypopigmented macules2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0012733HP:0005605Large cafe-au-lait macules with irregular margins2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0012733HP:0000957Cafe-au-lait spot2CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0012733HP:0000957Cafe-au-lait spot2CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0012733HP:0000957Cafe-au-lait spot2CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0012733HP:0000957Cafe-au-lait spot2CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0012733HP:0007412Macular hyperpigmented dermopathy2COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0012733HP:0000957Cafe-au-lait spot2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0012733HP:0000957Cafe-au-lait spot2COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0012733HP:0000957Cafe-au-lait spot2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0012733HP:0000957Cafe-au-lait spot2CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0012733HP:0000957Cafe-au-lait spot2CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0012733HP:0001003Multiple lentigines2DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 23HP:0040282 - Frequent13
HP:0012733HP:0001003Multiple lentigines2DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0012733HP:0000957Cafe-au-lait spot2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0012733HP:0000957Cafe-au-lait spot2ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0012733HP:0000957Cafe-au-lait spot2ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0012733HP:0000957Cafe-au-lait spot2FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0012733HP:0000957Cafe-au-lait spot2FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0012733HP:0000957Cafe-au-lait spot2FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0012733HP:0000957Cafe-au-lait spot2FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0012733HP:0000957Cafe-au-lait spot2FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0012733HP:0000957Cafe-au-lait spot2FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0012733HP:0000957Cafe-au-lait spot2FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0012733HP:0000957Cafe-au-lait spot2FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0012733HP:0000957Cafe-au-lait spot2FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0012733HP:0000957Cafe-au-lait spot2FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0012733HP:0000957Cafe-au-lait spot2FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0012733HP:0000957Cafe-au-lait spot2FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0012733HP:0000957Cafe-au-lait spot2FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0012733HP:0000957Cafe-au-lait spot2FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0012733HP:0000957Cafe-au-lait spot2FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0012733HP:0000957Cafe-au-lait spot2FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0012733HP:0000957Cafe-au-lait spot2FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L.53
HP:0012733HP:0000957Cafe-au-lait spot2FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0012733HP:0000957Cafe-au-lait spot2GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0012733HP:0005605Large cafe-au-lait macules with irregular margins2GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040281 - Very frequent101
HP:0012733HP:0005605Large cafe-au-lait macules with irregular margins2GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0012733HP:0000957Cafe-au-lait spot2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012733HP:0000957Cafe-au-lait spot2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0012733HP:0000957Cafe-au-lait spot2H4C5 CL E G H83674790OMIM:619950
HP:0012733HP:0000957Cafe-au-lait spot2HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0012733HP:0009719Hypomelanotic macule2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent23
HP:0012733HP:0007449Confetti-like hypopigmented macules2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0012733HP:0009719Hypomelanotic macule2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0012733HP:0000957Cafe-au-lait spot2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0012733HP:0000957Cafe-au-lait spot2IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0012733HP:0000957Cafe-au-lait spot2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0012733HP:0000957Cafe-au-lait spot2IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0012733HP:0000957Cafe-au-lait spot2IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0012733HP:0000957Cafe-au-lait spot2KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0012733HP:0000957Cafe-au-lait spot2KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0012733HP:0000957Cafe-au-lait spot2KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0012733HP:0000957Cafe-au-lait spot2KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0012733HP:0000957Cafe-au-lait spot2KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0012733HP:0000957Cafe-au-lait spot2KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0012733HP:0000957Cafe-au-lait spot2KITLG CL E G H42546343OMIM:6199479
HP:0012733HP:0000957Cafe-au-lait spot2KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0012733HP:0001003Multiple lentigines2KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0012733HP:0000957Cafe-au-lait spot2KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0012733HP:0000957Cafe-au-lait spot2KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0012733HP:0000957Cafe-au-lait spot2KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0012733HP:0001003Multiple lentigines2KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0012733HP:0009719Hypomelanotic macule2KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0012733HP:0009719Hypomelanotic macule2KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0012733HP:0009719Hypomelanotic macule2KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0012733HP:0007494Discrete 2 to 5-mm hyper- and hypopigmented macules2KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173
HP:0012733HP:0009719Hypomelanotic macule2KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0012733HP:0000957Cafe-au-lait spot2LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0012733HP:0000957Cafe-au-lait spot2LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0012733HP:0000957Cafe-au-lait spot2MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0012733HP:0000957Cafe-au-lait spot2MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0012733HP:0001003Multiple lentigines2MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0012733HP:0000957Cafe-au-lait spot2MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0012733HP:0000957Cafe-au-lait spot2MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0012733HP:0000957Cafe-au-lait spot2MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0012733HP:0001003Multiple lentigines2MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0012733HP:0000957Cafe-au-lait spot2MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0012733HP:0001003Multiple lentigines2MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0012733HP:0000957Cafe-au-lait spot2MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0012733HP:0000957Cafe-au-lait spot2MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0012733HP:0001003Multiple lentigines2MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0012733HP:0000957Cafe-au-lait spot2MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0012733HP:0000957Cafe-au-lait spot2MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0012733HP:0000957Cafe-au-lait spot2MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0012733HP:0007449Confetti-like hypopigmented macules2MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0012733HP:0005605Large cafe-au-lait macules with irregular margins2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0012733HP:0007449Confetti-like hypopigmented macules2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0012733HP:0000957Cafe-au-lait spot2MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0012733HP:0000957Cafe-au-lait spot2MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0012733HP:0000957Cafe-au-lait spot2MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0012733HP:0000957Cafe-au-lait spot2MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0012733HP:0000957Cafe-au-lait spot2MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0012733HP:0000957Cafe-au-lait spot2NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0012733HP:0000957Cafe-au-lait spot2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0012733HP:0000957Cafe-au-lait spot2NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040281 - Very frequent1952
HP:0012733HP:0000957Cafe-au-lait spot2NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0012733HP:0000957Cafe-au-lait spot2NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0012733HP:0000957Cafe-au-lait spot2NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0012733HP:0000957Cafe-au-lait spot2NF1 CL E G H47637765OMIM:601321</