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
Nevus (HP:0003764)help
Term ID: 3764
Name: Nevus
Synonym: Mole; Naevi; Naevus; Nevi
Definition: A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Comments:
Reference: HP:0003764
Genes and Diseases:
 
       Child Nodes:
........expandMelanocytic nevus (HP:0000995) help
................... HP:0005600 Congenital giant melanocytic nevus
................... HP:0005603 Numerous congenital melanocytic nevi
................... HP:0005606 Hyperpigmented nevi and streak
................... HP:0007481 Hyperpigmented nevi
........expandNevus flammeus (HP:0001052) help
................... HP:0007413 Nevus flammeus of the forehead
................... HP:0007616 Nevus flammeus nuchae
................... HP:0010733 Naevus flammeus of the eyelid
........expandNumerous nevi (HP:0001054) help
........expandAtypical nevus (HP:0001062) help
........expandAtypical nevi in non-sun exposed areas (HP:0001074) help
........expandNevus of Ota (HP:0009920) help
........expandEpidermal nevus (HP:0010816) help
................... HP:0010815 Nevus sebaceous
........expandCongenital panfollicular nevus (HP:0025471) help
........expandNevus spillus (HP:0025510) help
........expandNevus sebaceus (HP:0025511) help
........expandBlue nevus (HP:0100814) help
........expandConnective tissue nevi (HP:0100898) help
................... HP:0009721 Shagreen patch

 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
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) 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:0003764HP:0003764Nevus0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040281 - Very frequent11
HP:0003764HP:0003764Nevus0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0003764HP:0003764Nevus0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0003764HP:0003764Nevus0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0003764HP:0003764Nevus0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0003764HP:0003764Nevus0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0003764HP:0003764Nevus0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0003764HP:0003764Nevus0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0003764HP:0003764Nevus0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0003764HP:0003764Nevus0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040281 - Very frequent184
HP:0003764HP:0003764Nevus0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0003764HP:0003764Nevus0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0003764HP:0003764Nevus0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0003764HP:0003764Nevus0BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant276
HP:0003764HP:0003764Nevus0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0003764HP:0003764Nevus0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0003764HP:0003764Nevus0BRAF CL E G H6731097ORPHA:840Syringocystadenoma papilliferum276
HP:0003764HP:0003764Nevus0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0003764HP:0003764Nevus0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0003764HP:0003764Nevus0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0003764HP:0003764Nevus0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0003764HP:0003764Nevus0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0003764HP:0003764Nevus0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degeneration87
HP:0003764HP:0003764Nevus0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0003764HP:0003764Nevus0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0003764HP:0003764Nevus0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040281 - Very frequent145
HP:0003764HP:0003764Nevus0CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3145
HP:0003764HP:0003764Nevus0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0003764HP:0003764Nevus0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040281 - Very frequent289
HP:0003764HP:0003764Nevus0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040281 - Very frequent1
HP:0003764HP:0003764Nevus0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0003764HP:0003764Nevus0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0003764HP:0003764Nevus0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0003764HP:0003764Nevus0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0003764HP:0003764Nevus0CYP1B1 CL E G H15452597ORPHA:98976Congenital glaucoma101
HP:0003764HP:0003764Nevus0CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IVHP:0040282 - Frequent2
HP:0003764HP:0003764Nevus0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0003764HP:0003764Nevus0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0003764HP:0003764Nevus0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0DUT CL E G H18543078OMIM:620044
HP:0003764HP:0003764Nevus0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0003764HP:0003764Nevus0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0003764HP:0003764Nevus0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0003764HP:0003764Nevus0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0003764HP:0003764Nevus0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0003764HP:0003764Nevus0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0003764HP:0003764Nevus0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0003764HP:0003764Nevus0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0003764HP:0003764Nevus0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0003764HP:0003764Nevus0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0003764HP:0003764Nevus0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0003764HP:0003764Nevus0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0003764HP:0003764Nevus0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0003764HP:0003764Nevus0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0003764HP:0003764Nevus0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0003764HP:0003764Nevus0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0003764HP:0003764Nevus0FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans145
HP:0003764HP:0003764Nevus0FGFR3 CL E G H22613690OMIM:162900Epidermal nevus, somatic145
HP:0003764HP:0003764Nevus0FKBP10 CL E G H6068118169ORPHA:1149Kuskokwim syndrome61
HP:0003764HP:0003764Nevus0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0FOCAD CL E G H5491423377OMIM:6199913
HP:0003764HP:0003764Nevus0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0003764HP:0003764Nevus0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0003764HP:0003764Nevus0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammei7
HP:0003764HP:0003764Nevus0GNAQ CL E G H27764390OMIM:163000Nevi flammei, familial multiple7
HP:0003764HP:0003764Nevus0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0003764HP:0003764Nevus0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0003764HP:0003764Nevus0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0003764HP:0003764Nevus0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0003764HP:0003764Nevus0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0003764HP:0003764Nevus0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0003764HP:0003764Nevus0H4C5 CL E G H83674790OMIM:619950
HP:0003764HP:0003764Nevus0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0003764HP:0003764Nevus0HEATR3 CL E G H5502726087OMIM:620072
HP:0003764HP:0003764Nevus0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0003764HP:0003764Nevus0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0003764HP:0003764Nevus0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0003764HP:0003764Nevus0HRAS CL E G H32655173OMIM:162900Epidermal nevus, somatic113
HP:0003764HP:0003764Nevus0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0003764HP:0003764Nevus0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital113
HP:0003764HP:0003764Nevus0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0003764HP:0003764Nevus0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0003764HP:0003764Nevus0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0003764HP:0003764Nevus0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0003764HP:0003764Nevus0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0003764HP:0003764Nevus0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies9
HP:0003764HP:0003764Nevus0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0003764HP:0003764Nevus0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0003764HP:0003764Nevus0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0003764HP:0003764Nevus0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0003764HP:0003764Nevus0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0003764HP:0003764Nevus0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0003764HP:0003764Nevus0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0003764HP:0003764Nevus0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0003764HP:0003764Nevus0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0003764HP:0003764Nevus0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0003764HP:0003764Nevus0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0003764HP:0003764Nevus0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0003764HP:0003764Nevus0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003764HP:0003764Nevus0LEMD3 CL E G H2359228887OMIM:166700Buschke-Ollendorff syndrome.68
HP:0003764HP:0003764Nevus0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0003764HP:0003764Nevus0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0LTBP2 CL E G H40536715ORPHA:98976Congenital glaucoma123
HP:0003764HP:0003764Nevus0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0003764HP:0003764Nevus0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0003764HP:0003764Nevus0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040281 - Very frequent124
HP:0003764HP:0003764Nevus0MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040281 - Very frequent124
HP:0003764HP:0003764Nevus0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0003764HP:0003764Nevus0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0003764HP:0003764Nevus0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0003764HP:0003764Nevus0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0003764HP:0003764Nevus0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040281 - Very frequent3
HP:0003764HP:0003764Nevus0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040281 - Very frequent91
HP:0003764HP:0003764Nevus0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0003764HP:0003764Nevus0MPL CL E G H43527217ORPHA:3319Congenital amegakaryocytic thrombocytopenia97
HP:0003764HP:0003764Nevus0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0003764HP:0003764Nevus0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003764HP:0003764Nevus0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0003764HP:0003764Nevus0MYOC CL E G H46537610ORPHA:98976Congenital glaucoma47
HP:0003764HP:0003764Nevus0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0003764HP:0003764Nevus0NEK9 CL E G H9175418591ORPHA:64754Nevus comedonicus syndrome9
HP:0003764HP:0003764Nevus0NEK9 CL E G H9175418591OMIM:617025NEVUS COMEDONICUS; NC9
HP:0003764HP:0003764Nevus0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0003764HP:0003764Nevus0NRAS CL E G H48937989OMIM:162900Epidermal nevus, somatic102
HP:0003764HP:0003764Nevus0NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040281 - Very frequent102
HP:0003764HP:0003764Nevus0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0003764HP:0003764Nevus0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital102
HP:0003764HP:0003764Nevus0NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somatic102
HP:0003764HP:0003764Nevus0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0003764HP:0003764Nevus0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0003764HP:0003764Nevus0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0003764HP:0003764Nevus0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0003764HP:0003764Nevus0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0003764HP:0003764Nevus0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0003764HP:0003764Nevus0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0003764HP:0003764Nevus0PDE4D CL E G H51448783ORPHA:950Acrodysostosis113
HP:0003764HP:0003764Nevus0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0003764HP:0003764Nevus0PIK3CA CL E G H52908975OMIM:162900Epidermal nevus, somatic162
HP:0003764HP:0003764Nevus0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040283 - Occasional162
HP:0003764HP:0003764Nevus0PIK3CA CL E G H52908975OMIM:182000KERATOSIS, SEBORRHEIC162
HP:0003764HP:0003764Nevus0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0003764HP:0003764Nevus0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriers60
HP:0003764HP:0003764Nevus0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040281 - Very frequent23
HP:0003764HP:0003764Nevus0PRKAR1A CL E G H55739388ORPHA:950Acrodysostosis134
HP:0003764HP:0003764Nevus0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0003764HP:0003764Nevus0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0003764HP:0003764Nevus0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0003764HP:0003764Nevus0PTCH1 CL E G H57279585ORPHA:377Gorlin syndrome665
HP:0003764HP:0003764Nevus0PTCH2 CL E G H86439586ORPHA:377Gorlin syndrome40
HP:0003764HP:0003764Nevus0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0003764HP:0003764Nevus0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0003764HP:0003764Nevus0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0003764HP:0003764Nevus0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0003764HP:0003764Nevus0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0003764HP:0003764Nevus0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0003764HP:0003764Nevus0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0003764HP:0003764Nevus0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0003764HP:0003764Nevus0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0003764HP:0003764Nevus0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0003764HP:0003764Nevus0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0003764HP:0003764Nevus0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0003764HP:0003764Nevus0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0003764HP:0003764Nevus0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome1
HP:0003764HP:0003764Nevus0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0003764HP:0003764Nevus0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003764HP:0003764Nevus0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0003764HP:0003764Nevus0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0003764HP:0003764Nevus0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0003764HP:0003764Nevus0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0003764HP:0003764Nevus0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0003764HP:0003764Nevus0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0003764HP:0003764Nevus0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0003764HP:0003764Nevus0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0003764HP:0003764Nevus0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0003764HP:0003764Nevus0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0003764HP:0003764Nevus0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0003764HP:0003764Nevus0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty type
HP:0003764HP:0003764Nevus0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003764HP:0003764Nevus0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040284 - Very rare42
HP:0003764HP:0003764Nevus0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0003764HP:0003764Nevus0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0003764HP:0003764Nevus0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0003764HP:0003764Nevus0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0003764HP:0003764Nevus0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0003764HP:0003764Nevus0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003764HP:0003764Nevus0STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant740
HP:0003764HP:0003764Nevus0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0SUFU CL E G H5168416466ORPHA:377Gorlin syndrome124
HP:0003764HP:0003764Nevus0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0003764HP:0003764Nevus0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003764HP:0003764Nevus0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0TEK CL E G H701011724ORPHA:98976Congenital glaucoma78
HP:0003764HP:0003764Nevus0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040281 - Very frequent
HP:0003764HP:0003764Nevus0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040281 - Very frequent238
HP:0003764HP:0003764Nevus0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0003764HP:0003764Nevus0THPO CL E G H706611795ORPHA:3319Congenital amegakaryocytic thrombocytopenia23
HP:0003764HP:0003764Nevus0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget disease72
HP:0003764HP:0003764Nevus0TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget disease44
HP:0003764HP:0003764Nevus0TP63 CL E G H862615979ORPHA:978ADULT syndrome140
HP:0003764HP:0003764Nevus0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0003764HP:0003764Nevus0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0003764HP:0003764Nevus0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0003764HP:0003764Nevus0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0003764HP:0003764Nevus0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0003764HP:0003764Nevus0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0003764HP:0003764Nevus0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0003764HP:0003764Nevus0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0003764HP:0003764Nevus0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0003764HP:0003764Nevus0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 362
HP:0003764HP:0003764Nevus0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0003764HP:0003764Nevus0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0003764HP:0003764Nevus0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0003764HP:0003764Nevus0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0003764HP:0003764Nevus0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0003764HP:0003764Nevus0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0003764HP:0025471Congenital panfollicular nevus1 CL E G H
HP:0003764HP:0009920Nevus of Ota1 CL E G H
HP:0003764HP:0025511Nevus sebaceus1 CL E G H
HP:0003764HP:0000995Melanocytic nevus1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0003764HP:0000995Melanocytic nevus1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0003764HP:0010816Epidermal nevus1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0003764HP:0010816Epidermal nevus1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0003764HP:0100814Blue nevus1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0003764HP:0001052Nevus flammeus1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040281 - Very frequent145
HP:0003764HP:0001052Nevus flammeus1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0003764HP:0001052Nevus flammeus1ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0003764HP:0001052Nevus flammeus1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0001052Nevus flammeus1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0000995Melanocytic nevus1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0003764HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0003764HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0003764HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0003764HP:0001062Atypical nevus1BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0003764HP:0001074Atypical nevi in non-sun exposed areas1BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0003764HP:0001054Numerous nevi1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0003764HP:0000995Melanocytic nevus1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent276
HP:0003764HP:0010816Epidermal nevus1BRAF CL E G H6731097ORPHA:840Syringocystadenoma papilliferum276
HP:0003764HP:0001052Nevus flammeus1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0100814Blue nevus1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0003764HP:0000995Melanocytic nevus1CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040283 - Occasional317
HP:0003764HP:0000995Melanocytic nevus1CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degenerationHP:0040283 - Occasional87
HP:0003764HP:0001052Nevus flammeus1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0003764HP:0001052Nevus flammeus1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0003764HP:0001074Atypical nevi in non-sun exposed areas1CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3.145
HP:0003764HP:0001054Numerous nevi1CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3.145
HP:0003764HP:0001062Atypical nevus1CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3.145
HP:0003764HP:0001052Nevus flammeus1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0003764HP:0000995Melanocytic nevus1CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0003764HP:0001052Nevus flammeus1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0000995Melanocytic nevus1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0003764HP:0001052Nevus flammeus1CYP1B1 CL E G H15452597ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent101
HP:0003764HP:0000995Melanocytic nevus1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0003764HP:0001052Nevus flammeus1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0003764HP:0001052Nevus flammeus1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0001052Nevus flammeus1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0003764HP:0001052Nevus flammeus1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0003764HP:0001052Nevus flammeus1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0003764HP:0001052Nevus flammeus1EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0003764HP:0000995Melanocytic nevus1EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0003764HP:0001052Nevus flammeus1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0001052Nevus flammeus1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0003764HP:0000995Melanocytic nevus1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0003764HP:0000995Melanocytic nevus1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0003764HP:0000995Melanocytic nevus1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0003764HP:0000995Melanocytic nevus1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0003764HP:0000995Melanocytic nevus1ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0003764HP:0000995Melanocytic nevus1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0003764HP:0000995Melanocytic nevus1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0003764HP:0001052Nevus flammeus1FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0003764HP:0000995Melanocytic nevus1FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0003764HP:0000995Melanocytic nevus1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0003764HP:0000995Melanocytic nevus1FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans.145
HP:0003764HP:0000995Melanocytic nevus1FGFR3 CL E G H22613690OMIM:162900Epidermal nevus, somatic.145
HP:0003764HP:0001054Numerous nevi1FGFR3 CL E G H22613690OMIM:162900Epidermal nevus, somatic.145
HP:0003764HP:0000995Melanocytic nevus1FKBP10 CL E G H6068118169ORPHA:1149Kuskokwim syndromeHP:0040283 - Occasional61
HP:0003764HP:0001052Nevus flammeus1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0100814Blue nevus1FOCAD CL E G H5491423377OMIM:6199913
HP:0003764HP:0001052Nevus flammeus1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0003764HP:0100814Blue nevus1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0003764HP:0001052Nevus flammeus1GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040281 - Very frequent7
HP:0003764HP:0001052Nevus flammeus1GNAQ CL E G H27764390OMIM:163000Nevi flammei, familial multiple.7
HP:0003764HP:0001052Nevus flammeus1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003764HP:0001052Nevus flammeus1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003764HP:0001052Nevus flammeus1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003764HP:0001052Nevus flammeus1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional4
HP:0003764HP:0001052Nevus flammeus1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0003764HP:0100814Blue nevus1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0003764HP:0000995Melanocytic nevus1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0003764HP:0000995Melanocytic nevus1HRAS CL E G H32655173OMIM:162900Epidermal nevus, somatic.113
HP:0003764HP:0001054Numerous nevi1HRAS CL E G H32655173OMIM:162900Epidermal nevus, somatic.113
HP:0003764HP:0000995Melanocytic nevus1HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0003764HP:0000995Melanocytic nevus1HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital113
HP:0003764HP:0025510Nevus spilus1HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0003764HP:0100814Blue nevus1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0003764HP:0025510Nevus spilus1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0003764HP:0010816Epidermal nevus1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0003764HP:0000995Melanocytic nevus1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0003764HP:0010816Epidermal nevus1HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome113
HP:0003764HP:0100898Connective tissue nevi1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0003764HP:0100898Connective tissue nevi1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0003764HP:0001052Nevus flammeus1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0003764HP:0000995Melanocytic nevus1IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies.9
HP:0003764HP:0001052Nevus flammeus1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional9
HP:0003764HP:0001054Numerous nevi1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0003764HP:0001054Numerous nevi1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0003764HP:0001052Nevus flammeus1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0003764HP:0001052Nevus flammeus1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0003764HP:0000995Melanocytic nevus1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0003764HP:0001052Nevus flammeus1KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0003764HP:0000995Melanocytic nevus1KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0003764HP:0000995Melanocytic nevus1KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040283 - Occasional196
HP:0003764HP:0010816Epidermal nevus1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0003764HP:0010816Epidermal nevus1KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome196
HP:0003764HP:0001052Nevus flammeus1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003764HP:0100898Connective tissue nevi1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040280 - Obligate68
HP:0003764HP:0100898Connective tissue nevi1LEMD3 CL E G H2359228887OMIM:166700Buschke-Ollendorff syndrome.68
HP:0003764HP:0001052Nevus flammeus1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0001052Nevus flammeus1LTBP2 CL E G H40536715ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent123
HP:0003764HP:0000995Melanocytic nevus1LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040283 - Occasional43
HP:0003764HP:0000995Melanocytic nevus1MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevus124
HP:0003764HP:0000995Melanocytic nevus1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0003764HP:0001052Nevus flammeus1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0003764HP:0001052Nevus flammeus1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003764HP:0001052Nevus flammeus1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003764HP:0000995Melanocytic nevus1MPL CL E G H43527217ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040282 - Frequent97
HP:0003764HP:0000995Melanocytic nevus1MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0003764HP:0001052Nevus flammeus1MYOC CL E G H46537610ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent47
HP:0003764HP:0001052Nevus flammeus1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0003764HP:0001052Nevus flammeus1NEK9 CL E G H9175418591ORPHA:64754Nevus comedonicus syndromeHP:0040283 - Occasional9
HP:0003764HP:0010816Epidermal nevus1NEK9 CL E G H9175418591OMIM:617025NEVUS COMEDONICUS; NC9
HP:0003764HP:0000995Melanocytic nevus1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0003764HP:0001054Numerous nevi1NRAS CL E G H48937989OMIM:162900Epidermal nevus, somatic.102
HP:0003764HP:0000995Melanocytic nevus1NRAS CL E G H48937989OMIM:162900Epidermal nevus, somatic.102
HP:0003764HP:0000995Melanocytic nevus1NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevus102
HP:0003764HP:0000995Melanocytic nevus1NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0003764HP:0025510Nevus spilus1NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0003764HP:0000995Melanocytic nevus1NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital102
HP:0003764HP:0000995Melanocytic nevus1NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somatic102
HP:0003764HP:0000995Melanocytic nevus1NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040283 - Occasional102
HP:0003764HP:0010816Epidermal nevus1NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome102
HP:0003764HP:0010816Epidermal nevus1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0003764HP:0001052Nevus flammeus1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0003764HP:0000995Melanocytic nevus1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0003764HP:0001054Numerous nevi1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0003764HP:0100814Blue nevus1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0003764HP:0001074Atypical nevi in non-sun exposed areas1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0003764HP:0000995Melanocytic nevus1PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040283 - Occasional113
HP:0003764HP:0000995Melanocytic nevus1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0003764HP:0000995Melanocytic nevus1PIK3CA CL E G H52908975OMIM:162900Epidermal nevus, somatic.162
HP:0003764HP:0001054Numerous nevi1PIK3CA CL E G H52908975OMIM:162900Epidermal nevus, somatic.162
HP:0003764HP:0010816Epidermal nevus1PIK3CA CL E G H52908975OMIM:182000KERATOSIS, SEBORRHEIC162
HP:0003764HP:0001052Nevus flammeus1PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0003764HP:0001052Nevus flammeus1PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriers60
HP:0003764HP:0000995Melanocytic nevus1PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040283 - Occasional134
HP:0003764HP:0000995Melanocytic nevus1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0003764HP:0001074Atypical nevi in non-sun exposed areas1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0003764HP:0100814Blue nevus1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0003764HP:0000995Melanocytic nevus1PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040281 - Very frequent665
HP:0003764HP:0000995Melanocytic nevus1PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040281 - Very frequent40
HP:0003764HP:0000995Melanocytic nevus1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0003764HP:0010816Epidermal nevus1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0003764HP:0000995Melanocytic nevus1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0003764HP:0010816Epidermal nevus1PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0003764HP:0100898Connective tissue nevi1PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0003764HP:0000995Melanocytic nevus1PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040283 - Occasional291
HP:0003764HP:0000995Melanocytic nevus1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent291
HP:0003764HP:0001052Nevus flammeus1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0003764HP:0001052Nevus flammeus1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0003764HP:0100814Blue nevus1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0003764HP:0000995Melanocytic nevus1RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040283 - Occasional212
HP:0003764HP:0000995Melanocytic nevus1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent212
HP:0003764HP:0000995Melanocytic nevus1RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040283 - Occasional3
HP:0003764HP:0000995Melanocytic nevus1RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0003764HP:0000995Melanocytic nevus1RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0003764HP:0001052Nevus flammeus1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003764HP:0001052Nevus flammeus1RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0003764HP:0001052Nevus flammeus1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0000995Melanocytic nevus1RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040283 - Occasional39
HP:0003764HP:0001052Nevus flammeus1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0003764HP:0001052Nevus flammeus1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0003764HP:0000995Melanocytic nevus1RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0003764HP:0000995Melanocytic nevus1RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040283 - Occasional1
HP:0003764HP:0000995Melanocytic nevus1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0003764HP:0000995Melanocytic nevus1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0003764HP:0000995Melanocytic nevus1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0003764HP:0000995Melanocytic nevus1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0003764HP:0001052Nevus flammeus1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0003764HP:0100898Connective tissue nevi1SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty type
HP:0003764HP:0001052Nevus flammeus1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003764HP:0001052Nevus flammeus1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0003764HP:0010816Epidermal nevus1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0003764HP:0000995Melanocytic nevus1SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040283 - Occasional315
HP:0003764HP:0000995Melanocytic nevus1SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040283 - Occasional30
HP:0003764HP:0000995Melanocytic nevus1SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0003764HP:0000995Melanocytic nevus1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003764HP:0001062Atypical nevus1STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0003764HP:0001074Atypical nevi in non-sun exposed areas1STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0003764HP:0001054Numerous nevi1STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0003764HP:0001052Nevus flammeus1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0000995Melanocytic nevus1SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040281 - Very frequent124
HP:0003764HP:0000995Melanocytic nevus1SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0003764HP:0100814Blue nevus1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003764HP:0001052Nevus flammeus1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0001052Nevus flammeus1TEK CL E G H701011724ORPHA:98976Congenital glaucomaHP:0040281 - Very frequent78
HP:0003764HP:0001052Nevus flammeus1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0003764HP:0000995Melanocytic nevus1THPO CL E G H706611795ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040282 - Frequent23
HP:0003764HP:0001052Nevus flammeus1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0000995Melanocytic nevus1TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget diseaseHP:0040283 - Occasional72
HP:0003764HP:0000995Melanocytic nevus1TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget diseaseHP:0040283 - Occasional44
HP:0003764HP:0000995Melanocytic nevus1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040281 - Very frequent140
HP:0003764HP:0001052Nevus flammeus1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0003764HP:0100898Connective tissue nevi1TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0003764HP:0100898Connective tissue nevi1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0003764HP:0100898Connective tissue nevi1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0003764HP:0100898Connective tissue nevi1TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0003764HP:0100898Connective tissue nevi1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0003764HP:0100898Connective tissue nevi1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0003764HP:0000995Melanocytic nevus1TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040282 - Frequent146
HP:0003764HP:0100814Blue nevus1TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040283 - Occasional62
HP:0003764HP:0000995Melanocytic nevus1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0003764HP:0001052Nevus flammeus1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003764HP:0001052Nevus flammeus1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0003764HP:0001052Nevus flammeus1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0003764HP:0000995Melanocytic nevus1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0003764HP:0000995Melanocytic nevus1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0003764HP:0007616Nevus flammeus nuchae2 CL E G H
HP:0003764HP:0005606Hyperpigmented nevi and streak2 CL E G H
HP:0003764HP:0034275Verrucous epidermal nevus2 CL E G H
HP:0003764HP:0010733Naevus flammeus of the eyelid2ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0003764HP:0007413Nevus flammeus of the forehead2ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0003764HP:0010815Nevus sebaceous2BRAF CL E G H6731097ORPHA:840Syringocystadenoma papilliferumHP:0040283 - Occasional276
HP:0003764HP:0007413Nevus flammeus of the forehead2CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0003764HP:0007413Nevus flammeus of the forehead2CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0003764HP:0010733Naevus flammeus of the eyelid2DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040283 - Occasional164
HP:0003764HP:0010733Naevus flammeus of the eyelid2DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0003764HP:0010733Naevus flammeus of the eyelid2DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0003764HP:0010733Naevus flammeus of the eyelid2FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0003764HP:0005600Congenital giant melanocytic nevus2HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0003764HP:0010815Nevus sebaceous2HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0003764HP:0010815Nevus sebaceous2HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0003764HP:0009721Shagreen patch2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0003764HP:0009721Shagreen patch2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0003764HP:0010815Nevus sebaceous2KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0003764HP:0007413Nevus flammeus of the forehead2LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003764HP:0005600Congenital giant melanocytic nevus2MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040281 - Very frequent124
HP:0003764HP:0007481Hyperpigmented nevi2MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040284 - Very rare124
HP:0003764HP:0007413Nevus flammeus of the forehead2MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040281 - Very frequent43
HP:0003764HP:0020154Nevus comedonicus2NEK9 CL E G H9175418591OMIM:617025NEVUS COMEDONICUS; NC9
HP:0003764HP:0005600Congenital giant melanocytic nevus2NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040281 - Very frequent102
HP:0003764HP:0005600Congenital giant melanocytic nevus2NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0003764HP:0005603Numerous congenital melanocytic nevi2NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somatic.102
HP:0003764HP:0010815Nevus sebaceous2NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0003764HP:0007481Hyperpigmented nevi2OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040284 - Very rare121
HP:0003764HP:0007413Nevus flammeus of the forehead2PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0003764HP:0009721Shagreen patch2PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040282 - Frequent948
HP:0003764HP:0010733Naevus flammeus of the eyelid2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0003764HP:0007481Hyperpigmented nevi2RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0003764HP:0007413Nevus flammeus of the forehead2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003764HP:0007413Nevus flammeus of the forehead2RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0003764HP:0009721Shagreen patch2SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0003764HP:0010815Nevus sebaceous2SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0003764HP:0009721Shagreen patch2TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0003764HP:0009721Shagreen patch2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0003764HP:0009721Shagreen patch2TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0003764HP:0009721Shagreen patch2TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0003764HP:0009721Shagreen patch2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0003764HP:0009721Shagreen patch2TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0003764HP:0010733Naevus flammeus of the eyelid2WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0003764HP:0010817Linear nevus sebaceous3HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0003764HP:0010817Linear nevus sebaceous3HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0003764HP:0010817Linear nevus sebaceous3KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0003764HP:0010817Linear nevus sebaceous3NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102


Genes (160) :ACD AKT1 ALX4 ARL6IP6 ASXL1 ASXL2 BAP1 BAZ1B BCL7B BLOC1S5 BRAF BUD23 CAMK2A CBL CDC42 CDH11 CDH3 CDK10 CDK13 CDK4 CDKN1C CDKN2A CDKN2B CHRNA7 CHRNG CLIP2 COL3A1 COL7A1 CYP1B1 CYP26C1 DDB2 DIS3L2 DNAJC30 DUT DVL1 DVL3 EDEM3 EED EIF4H ELN ERCC2 ERCC3 ERCC4 ERCC5 ERF EZH2 FBN1 FGFR1 FGFR2 FGFR3 FKBP10 FKBP6 FOCAD FZD2 GNA11 GNAQ GTF2I GTF2IRD1 GTF2IRD2 H1-4 H19 H19-ICR H4C5 HDAC8 HEATR3 HEXB HPS1 HRAS IFNG IGF2 KANSL1 KCNQ1 KCNQ1OT1 KLLN KRAS KRT14 LBR LEMD3 LIMK1 LTBP2 LZTR1 MC1R MED25 METTL27 MGMT MITF MLXIPL MPL MRAS MSL3 MYH3 MYOC NCF1 NEK9 NFIX NRAS NSDHL NXN OCA2 PCGF2 PDE11A PDE4D PIK3CA PLP1 POT1 PRKAR1A PTCH1 PTCH2 PTEN PTPN11 PUF60 PUS3 RAF1 RASA2 RBM28 RBM8A RFC2 RIT1 ROR2 RRAS RRAS2 SDHB SDHC SDHD SEC23B SETBP1 SLC25A24 SLC26A2 SLC45A2 SMC3 SMO SOS1 SOS2 SPRED2 SPTBN1 STK11 STX1A SUFU SUZ12 TASP1 TBL2 TEK TERF2IP TERT TGFB3 THPO TMEM270 TNFRSF11A TNFRSF11B TP63 TRIM37 TSC1 TSC2 TYR TYRP1 USF3 VPS37D WNT5A XPA XPC

Diseases (125) :ORPHA:618 ORPHA:201 ORPHA:744 OMIM:176920 OMIM:613451 ORPHA:1556 OMIM:605039 ORPHA:97297 OMIM:617190 ORPHA:904 OMIM:619172 OMIM:115150 OMIM:613707 OMIM:155600 OMIM:613706 ORPHA:500 ORPHA:840 OMIM:617798 ORPHA:648 ORPHA:487796 OMIM:616737 OMIM:211380 ORPHA:1573 OMIM:617694 OMIM:617360 OMIM:609048 OMIM:130650 ORPHA:199318 ORPHA:2990 ORPHA:286 ORPHA:89842 ORPHA:98976 ORPHA:398189 ORPHA:910 ORPHA:2849 OMIM:620044 ORPHA:3107 OMIM:180700 OMIM:619493 OMIM:617561 ORPHA:207 OMIM:277590 OMIM:616914 ORPHA:2396 ORPHA:1555 OMIM:612247 OMIM:162900 ORPHA:1149 OMIM:619991 ORPHA:624 OMIM:163000 OMIM:617537 ORPHA:231140 OMIM:619950 OMIM:300882 OMIM:620072 ORPHA:309155 OMIM:203300 OMIM:218040 ORPHA:2612 OMIM:137550 ORPHA:2874 OMIM:163200 ORPHA:805 OMIM:613254 OMIM:616489 ORPHA:363958 ORPHA:363965 OMIM:600268 ORPHA:89838 OMIM:618019 OMIM:166700 ORPHA:1306 OMIM:605275 ORPHA:626 ORPHA:79432 ORPHA:464738 OMIM:616449 ORPHA:3319 OMIM:301032 ORPHA:64754 OMIM:617025 OMIM:602535 OMIM:249400 OMIM:308050 ORPHA:1507 OMIM:618371 ORPHA:1359 ORPHA:950 ORPHA:276280 OMIM:182000 ORPHA:60040 ORPHA:280229 OMIM:101800 OMIM:160980 ORPHA:377 ORPHA:109 ORPHA:2969 ORPHA:508488 ORPHA:508498 ORPHA:488627 OMIM:611553 OMIM:612079 ORPHA:157954 OMIM:274000 ORPHA:3320 OMIM:268310 OMIM:616078 ORPHA:2963 OMIM:222600 ORPHA:79435 OMIM:610759 OMIM:601707 OMIM:619475 OMIM:618786 OMIM:618950 OMIM:615582 ORPHA:2801 ORPHA:978 ORPHA:1896 OMIM:253250 ORPHA:538 OMIM:191100 ORPHA:79434 ORPHA:79433
 

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