Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of skin morphology (HP:0011121)help
Parent Node:
expandLocalized skin lesion (HP:0011355)help
..Starting node
..expandCafe-au-lait spot (HP:0000957)help
Term ID: 957
Name: Cafe-au-lait spot
Synonym: Birthmark; Cafe au lait spots; Cafe-au-lait macule; Cafe-au-lait macules; Cafe-au-lait spots; Flat light-brown mark on skin
Definition: Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Comments:
Reference: HP:0000957
Genes and Diseases:
 
       Child Nodes:
........expandFew cafe-au-lait spots (HP:0007429) help
........expandMultiple cafe-au-lait spots (HP:0007565) 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
..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
..expandMacule (HP:0012733) 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:0000957HP:0000957Cafe-au-lait spot0ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditaria20
HP:0000957HP:0000957Cafe-au-lait spot0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000957HP:0000957Cafe-au-lait spot0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000957HP:0000957Cafe-au-lait spot0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000957HP:0000957Cafe-au-lait spot0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000957HP:0000957Cafe-au-lait spot0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0000957HP:0000957Cafe-au-lait spot0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0000957HP:0000957Cafe-au-lait spot0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0000957HP:0000957Cafe-au-lait spot0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000957HP:0000957Cafe-au-lait spot0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0000957HP:0000957Cafe-au-lait spot0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000957HP:0000957Cafe-au-lait spot0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000957HP:0000957Cafe-au-lait spot0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000957HP:0000957Cafe-au-lait spot0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000957HP:0000957Cafe-au-lait spot0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0000957HP:0000957Cafe-au-lait spot0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0000957HP:0000957Cafe-au-lait spot0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0000957HP:0000957Cafe-au-lait spot0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0000957HP:0000957Cafe-au-lait spot0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0000957HP:0000957Cafe-au-lait spot0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0000957HP:0000957Cafe-au-lait spot0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0000957HP:0000957Cafe-au-lait spot0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0000957HP:0000957Cafe-au-lait spot0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000957HP:0000957Cafe-au-lait spot0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0000957HP:0000957Cafe-au-lait spot0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0000957HP:0000957Cafe-au-lait spot0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000957HP:0000957Cafe-au-lait spot0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0000957HP:0000957Cafe-au-lait spot0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0000957HP:0000957Cafe-au-lait spot0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000957HP:0000957Cafe-au-lait spot0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000957HP:0000957Cafe-au-lait spot0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0000957HP:0000957Cafe-au-lait spot0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0000957HP:0000957Cafe-au-lait spot0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000957HP:0000957Cafe-au-lait spot0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0000957HP:0000957Cafe-au-lait spot0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0000957HP:0000957Cafe-au-lait spot0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000957HP:0000957Cafe-au-lait spot0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0000957HP:0000957Cafe-au-lait spot0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0000957HP:0000957Cafe-au-lait spot0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0000957HP:0000957Cafe-au-lait spot0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0000957HP:0000957Cafe-au-lait spot0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0000957HP:0000957Cafe-au-lait spot0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0000957HP:0000957Cafe-au-lait spot0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000957HP:0000957Cafe-au-lait spot0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0000957HP:0000957Cafe-au-lait spot0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0000957HP:0000957Cafe-au-lait spot0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0000957HP:0000957Cafe-au-lait spot0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000957HP:0000957Cafe-au-lait spot0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0000957HP:0000957Cafe-au-lait spot0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0000957HP:0000957Cafe-au-lait spot0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0000957HP:0000957Cafe-au-lait spot0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0000957HP:0000957Cafe-au-lait spot0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0000957HP:0000957Cafe-au-lait spot0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L.53
HP:0000957HP:0000957Cafe-au-lait spot0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0000957HP:0000957Cafe-au-lait spot0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0000957HP:0000957Cafe-au-lait spot0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000957HP:0000957Cafe-au-lait spot0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0000957HP:0000957Cafe-au-lait spot0H4C5 CL E G H83674790OMIM:619950
HP:0000957HP:0000957Cafe-au-lait spot0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0000957HP:0000957Cafe-au-lait spot0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0000957HP:0000957Cafe-au-lait spot0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0000957HP:0000957Cafe-au-lait spot0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0000957HP:0000957Cafe-au-lait spot0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0000957HP:0000957Cafe-au-lait spot0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0000957HP:0000957Cafe-au-lait spot0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000957HP:0000957Cafe-au-lait spot0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000957HP:0000957Cafe-au-lait spot0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0000957HP:0000957Cafe-au-lait spot0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000957HP:0000957Cafe-au-lait spot0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000957HP:0000957Cafe-au-lait spot0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0000957HP:0000957Cafe-au-lait spot0KITLG CL E G H42546343OMIM:6199479
HP:0000957HP:0000957Cafe-au-lait spot0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0000957HP:0000957Cafe-au-lait spot0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000957HP:0000957Cafe-au-lait spot0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000957HP:0000957Cafe-au-lait spot0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000957HP:0000957Cafe-au-lait spot0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000957HP:0000957Cafe-au-lait spot0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000957HP:0000957Cafe-au-lait spot0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0000957HP:0000957Cafe-au-lait spot0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0000957HP:0000957Cafe-au-lait spot0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0000957HP:0000957Cafe-au-lait spot0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000957HP:0000957Cafe-au-lait spot0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0000957HP:0000957Cafe-au-lait spot0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000957HP:0000957Cafe-au-lait spot0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0000957HP:0000957Cafe-au-lait spot0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000957HP:0000957Cafe-au-lait spot0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0000957HP:0000957Cafe-au-lait spot0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000957HP:0000957Cafe-au-lait spot0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0000957HP:0000957Cafe-au-lait spot0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0000957HP:0000957Cafe-au-lait spot0MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0000957HP:0000957Cafe-au-lait spot0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0000957HP:0000957Cafe-au-lait spot0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000957HP:0000957Cafe-au-lait spot0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000957HP:0000957Cafe-au-lait spot0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000957HP:0000957Cafe-au-lait spot0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0000957HP:0000957Cafe-au-lait spot0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040281 - Very frequent1952
HP:0000957HP:0000957Cafe-au-lait spot0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0000957HP:0000957Cafe-au-lait spot0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000957HP:0000957Cafe-au-lait spot0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000957HP:0000957Cafe-au-lait spot0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndrome1952
HP:0000957HP:0000957Cafe-au-lait spot0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0000957HP:0000957Cafe-au-lait spot0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0000957HP:0000957Cafe-au-lait spot0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000957HP:0000957Cafe-au-lait spot0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0000957HP:0000957Cafe-au-lait spot0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0000957HP:0000957Cafe-au-lait spot0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0000957HP:0000957Cafe-au-lait spot0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0000957HP:0000957Cafe-au-lait spot0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040284 - Very rare13
HP:0000957HP:0000957Cafe-au-lait spot0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000957HP:0000957Cafe-au-lait spot0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000957HP:0000957Cafe-au-lait spot0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000957HP:0000957Cafe-au-lait spot0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0000957HP:0000957Cafe-au-lait spot0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000957HP:0000957Cafe-au-lait spot0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0000957HP:0000957Cafe-au-lait spot0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000957HP:0000957Cafe-au-lait spot0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040284 - Very rare134
HP:0000957HP:0000957Cafe-au-lait spot0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0000957HP:0000957Cafe-au-lait spot0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000957HP:0000957Cafe-au-lait spot0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000957HP:0000957Cafe-au-lait spot0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000957HP:0000957Cafe-au-lait spot0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000957HP:0000957Cafe-au-lait spot0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0000957HP:0000957Cafe-au-lait spot0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0000957HP:0000957Cafe-au-lait spot0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000957HP:0000957Cafe-au-lait spot0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000957HP:0000957Cafe-au-lait spot0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0000957HP:0000957Cafe-au-lait spot0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000957HP:0000957Cafe-au-lait spot0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0000957HP:0000957Cafe-au-lait spot0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000957HP:0000957Cafe-au-lait spot0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0000957HP:0000957Cafe-au-lait spot0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000957HP:0000957Cafe-au-lait spot0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0000957HP:0000957Cafe-au-lait spot0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000957HP:0000957Cafe-au-lait spot0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000957HP:0000957Cafe-au-lait spot0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0000957HP:0000957Cafe-au-lait spot0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000957HP:0000957Cafe-au-lait spot0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000957HP:0000957Cafe-au-lait spot0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0000957HP:0000957Cafe-au-lait spot0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000957HP:0000957Cafe-au-lait spot0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000957HP:0000957Cafe-au-lait spot0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040283 - Occasional
HP:0000957HP:0000957Cafe-au-lait spot0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040283 - Occasional
HP:0000957HP:0000957Cafe-au-lait spot0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000957HP:0000957Cafe-au-lait spot0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0000957HP:0000957Cafe-au-lait spot0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P.274
HP:0000957HP:0000957Cafe-au-lait spot0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000957HP:0000957Cafe-au-lait spot0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0000957HP:0000957Cafe-au-lait spot0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0000957HP:0000957Cafe-au-lait spot0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000957HP:0000957Cafe-au-lait spot0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2HP:0040283 - Occasional1
HP:0000957HP:0000957Cafe-au-lait spot0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblastsHP:0040283 - Occasional1
HP:0000957HP:0000957Cafe-au-lait spot0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0000957HP:0000957Cafe-au-lait spot0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0000957HP:0000957Cafe-au-lait spot0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0000957HP:0000957Cafe-au-lait spot0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2.
HP:0000957HP:0000957Cafe-au-lait spot0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0000957HP:0000957Cafe-au-lait spot0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0000957HP:0000957Cafe-au-lait spot0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0000957HP:0000957Cafe-au-lait spot0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0000957HP:0000957Cafe-au-lait spot0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0000957HP:0000957Cafe-au-lait spot0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0000957HP:0000957Cafe-au-lait spot0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0000957HP:0000957Cafe-au-lait spot0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0000957HP:0000957Cafe-au-lait spot0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000957HP:0000957Cafe-au-lait spot0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0000957HP:0000957Cafe-au-lait spot0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000957HP:0000957Cafe-au-lait spot0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000957HP:0000957Cafe-au-lait spot0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0000957HP:0000957Cafe-au-lait spot0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000957HP:0007565Multiple cafe-au-lait spots1ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditariaHP:0040282 - Frequent20
HP:0000957HP:0007565Multiple cafe-au-lait spots1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0000957HP:0007565Multiple cafe-au-lait spots1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0000957HP:0007565Multiple cafe-au-lait spots1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0000957HP:0007565Multiple cafe-au-lait spots1ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0000957HP:0007565Multiple cafe-au-lait spots1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000957HP:0007429Few cafe-au-lait spots1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000957HP:0007565Multiple cafe-au-lait spots1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000957HP:0007565Multiple cafe-au-lait spots1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000957HP:0007565Multiple cafe-au-lait spots1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000957HP:0007565Multiple cafe-au-lait spots1BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0000957HP:0007565Multiple cafe-au-lait spots1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0000957HP:0007565Multiple cafe-au-lait spots1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0000957HP:0007565Multiple cafe-au-lait spots1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0000957HP:0007565Multiple cafe-au-lait spots1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0000957HP:0007565Multiple cafe-au-lait spots1CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent
HP:0000957HP:0007565Multiple cafe-au-lait spots1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000957HP:0007565Multiple cafe-au-lait spots1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000957HP:0007565Multiple cafe-au-lait spots1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0000957HP:0007429Few cafe-au-lait spots1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000957HP:0007565Multiple cafe-au-lait spots1IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent
HP:0000957HP:0007565Multiple cafe-au-lait spots1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0000957HP:0007565Multiple cafe-au-lait spots1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000957HP:0007565Multiple cafe-au-lait spots1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000957HP:0007565Multiple cafe-au-lait spots1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000957HP:0007565Multiple cafe-au-lait spots1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0000957HP:0007565Multiple cafe-au-lait spots1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000957HP:0007565Multiple cafe-au-lait spots1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000957HP:0007565Multiple cafe-au-lait spots1MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent178
HP:0000957HP:0007565Multiple cafe-au-lait spots1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0000957HP:0007565Multiple cafe-au-lait spots1MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0000957HP:0007565Multiple cafe-au-lait spots1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0000957HP:0007565Multiple cafe-au-lait spots1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040281 - Very frequent1952
HP:0000957HP:0007565Multiple cafe-au-lait spots1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000957HP:0007565Multiple cafe-au-lait spots1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000957HP:0007565Multiple cafe-au-lait spots1NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent1952
HP:0000957HP:0007565Multiple cafe-au-lait spots1NF1 CL E G H47637765OMIM:193520Watson syndrome.1952
HP:0000957HP:0007565Multiple cafe-au-lait spots1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000957HP:0007565Multiple cafe-au-lait spots1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040282 - Frequent531
HP:0000957HP:0007565Multiple cafe-au-lait spots1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000957HP:0007565Multiple cafe-au-lait spots1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0000957HP:0007565Multiple cafe-au-lait spots1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0000957HP:0007565Multiple cafe-au-lait spots1PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0000957HP:0007565Multiple cafe-au-lait spots1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000957HP:0007565Multiple cafe-au-lait spots1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0000957HP:0007565Multiple cafe-au-lait spots1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0000957HP:0007565Multiple cafe-au-lait spots1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0000957HP:0007565Multiple cafe-au-lait spots1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000957HP:0007565Multiple cafe-au-lait spots1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000957HP:0007429Few cafe-au-lait spots1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0000957HP:0007565Multiple cafe-au-lait spots1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000957HP:0007565Multiple cafe-au-lait spots1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0000957HP:0007565Multiple cafe-au-lait spots1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000957HP:0007565Multiple cafe-au-lait spots1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0000957HP:0007565Multiple cafe-au-lait spots1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0000957HP:0007565Multiple cafe-au-lait spots1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0000957HP:0007565Multiple cafe-au-lait spots1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0000957HP:0007429Few cafe-au-lait spots1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000957HP:0007565Multiple cafe-au-lait spots1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000957HP:0007565Multiple cafe-au-lait spots1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000957HP:0007565Multiple cafe-au-lait spots1TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent10
HP:0000957HP:0007565Multiple cafe-au-lait spots1TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040282 - Frequent4
HP:0000957HP:0007565Multiple cafe-au-lait spots1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040284 - Very rare140
HP:0000957HP:0007565Multiple cafe-au-lait spots1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0000957HP:0007429Few cafe-au-lait spots1TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 32
HP:0000957HP:0007565Multiple cafe-au-lait spots1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040283 - Occasional7
HP:0000957HP:0007565Multiple cafe-au-lait spots1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000957HP:0007565Multiple cafe-au-lait spots1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000957HP:0007565Multiple cafe-au-lait spots1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125


Genes (124) :ABCB6 ABCC9 AKT1 ANAPC1 APC ARL6IP6 ATM BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CBL CDKN1C CEP57 CIB1 CLCN7 COL25A1 COPB1 CREBBP CWC27 EP300 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GNA11 GNB2 H19-ICR H4C5 HMGA2 IFNG IGF1 IGF2 IL7 KANSL1 KDM5C KDM6A KDM6B KIF1B KITLG KLLN KMT2D KRAS LZTR1 MAD2L2 MAN1B1 MAP2K1 MAP2K2 MAPK1 MAX MED12 MEN1 MLH1 MSH2 MSH6 MTOR NBN NF1 NF2 NRAS PALB2 PCNT PDE11A PHIP PIK3CA PLAG1 PLXND1 PMS2 PPP1CB PRKAR1A PTEN PTPN11 RAD51 RAD51C RAF1 RBBP8 RERE RET REV3L RFWD3 SDHB SDHC SDHD SEC23B SET SETBP1 SH3PXD2B SHOC2 SKIC2 SKIC3 SLX4 SMARCA2 SOX10 SPRED1 STEAP3 TMC6 TMC8 TMEM127 TOP3A TP63 TRIP13 TSC1 TSC2 TWIST2 UBE2T UBR1 USF3 VHL WASF1 WBP11 XRCC2 ZFHX4

Diseases (108) :ORPHA:241 OMIM:619719 ORPHA:201 ORPHA:744 OMIM:618625 ORPHA:99818 ORPHA:1556 ORPHA:100 OMIM:208900 ORPHA:125 OMIM:210900 ORPHA:1340 OMIM:613707 OMIM:163950 ORPHA:84 OMIM:605724 OMIM:609054 ORPHA:1052 OMIM:613563 ORPHA:397590 OMIM:614114 ORPHA:302 OMIM:618541 ORPHA:91411 OMIM:619255 OMIM:180849 ORPHA:166035 OMIM:250410 OMIM:268300 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 OMIM:614083 OMIM:619503 OMIM:180860 OMIM:619950 OMIM:613254 ORPHA:73272 ORPHA:363958 ORPHA:363965 ORPHA:85279 OMIM:147920 OMIM:618505 OMIM:171300 OMIM:619947 OMIM:145250 OMIM:616564 OMIM:605275 ORPHA:397941 OMIM:615280 ORPHA:638 OMIM:619087 OMIM:300895 OMIM:131100 OMIM:276300 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:570 OMIM:619101 OMIM:617506 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:611584 OMIM:611431 ORPHA:137605 OMIM:615234 ORPHA:300298 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.