Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Localized skin lesion (HP:0011355)help
..Starting node
..expand
Skin ulcer (HP:0200042)help
Term ID: 200042
Name: Skin ulcer
Synonym: Open skin sore
Definition: A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Comments:
Reference: HP:0200042
Genes and Diseases:
 
       Child Nodes:
........expandPenetrating foot ulcers (HP:0001026) help
........expandAcral ulceration and osteomyelitis leading to autoamputation of digits (HP:0001226) help
........expandAcral ulceration and osteomyelitis leading to autoamputation of the digits (feet) (HP:0001862) help
........expandAcral ulceration leading to autoamputation of digits (HP:0006121) help
........expandPressure ulcer (HP:0012399) help
........expandPyoderma gangrenosum (HP:0025452) 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
..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 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:0200042HP:0200042Skin ulcer0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0200042HP:0200042Skin ulcer0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040283 - Occasional19
HP:0200042HP:0200042Skin ulcer0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare150
HP:0200042HP:0200042Skin ulcer0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0200042HP:0200042Skin ulcer0ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040282 - Frequent49
HP:0200042HP:0200042Skin ulcer0AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratodermaHP:0040282 - Frequent5
HP:0200042HP:0200042Skin ulcer0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0200042HP:0200042Skin ulcer0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0200042HP:0200042Skin ulcer0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0200042HP:0200042Skin ulcer0BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenitaHP:0040282 - Frequent1
HP:0200042HP:0200042Skin ulcer0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0200042HP:0200042Skin ulcer0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0200042HP:0200042Skin ulcer0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent11
HP:0200042HP:0200042Skin ulcer0CAV1 CL E G H8571527ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent11
HP:0200042HP:0200042Skin ulcer0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0CCN2 CL E G H14902500ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0CCR6 CL E G H12351607ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040281 - Very frequent56
HP:0200042HP:0200042Skin ulcer0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0200042HP:0200042Skin ulcer0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0200042HP:0200042Skin ulcer0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0200042HP:0200042Skin ulcer0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent3
HP:0200042HP:0200042Skin ulcer0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0200042HP:0200042Skin ulcer0COL1A1 CL E G H12772197ORPHA:31112Dermatofibrosarcoma protuberansHP:0040282 - Frequent373
HP:0200042HP:0200042Skin ulcer0COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040283 - Occasional749
HP:0200042HP:0200042Skin ulcer0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0200042HP:0200042Skin ulcer0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional10
HP:0200042HP:0200042Skin ulcer0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0200042HP:0200042Skin ulcer0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional27
HP:0200042HP:0200042Skin ulcer0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional111
HP:0200042HP:0200042Skin ulcer0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional
HP:0200042HP:0200042Skin ulcer0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0200042HP:0200042Skin ulcer0DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenitaHP:0040282 - Frequent9
HP:0200042HP:0200042Skin ulcer0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0200042HP:0200042Skin ulcer0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0200042HP:0200042Skin ulcer0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare51
HP:0200042HP:0200042Skin ulcer0EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040283 - Occasional3
HP:0200042HP:0200042Skin ulcer0F12 CL E G H21613530ORPHA:330Congenital factor XII deficiency28
HP:0200042HP:0200042Skin ulcer0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0200042HP:0200042Skin ulcer0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body diseaseHP:0040282 - Frequent86
HP:0200042HP:0200042Skin ulcer0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0200042HP:0200042Skin ulcer0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040283 - Occasional7
HP:0200042HP:0200042Skin ulcer0HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphomaHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040282 - Frequent580
HP:0200042HP:0200042Skin ulcer0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0200042HP:0200042Skin ulcer0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0200042HP:0200042Skin ulcer0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0200042HP:0200042Skin ulcer0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040282 - Frequent4
HP:0200042HP:0200042Skin ulcer0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0200042HP:0200042Skin ulcer0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0200042HP:0200042Skin ulcer0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent2
HP:0200042HP:0200042Skin ulcer0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0200042HP:0200042Skin ulcer0HLA-DRB1 CL E G H31234948ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent2
HP:0200042HP:0200042Skin ulcer0IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040283 - Occasional15
HP:0200042HP:0200042Skin ulcer0IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040283 - Occasional29
HP:0200042HP:0200042Skin ulcer0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0200042HP:0200042Skin ulcer0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040282 - Frequent31
HP:0200042HP:0200042Skin ulcer0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent14
HP:0200042HP:0200042Skin ulcer0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent196
HP:0200042HP:0200042Skin ulcer0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0200042HP:0200042Skin ulcer0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent4
HP:0200042HP:0200042Skin ulcer0IRF5 CL E G H36636120ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent4
HP:0200042HP:0200042Skin ulcer0ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0200042HP:0200042Skin ulcer0ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenitaHP:0040282 - Frequent124
HP:0200042HP:0200042Skin ulcer0KIAA0319L CL E G H7993230071ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0200042HP:0200042Skin ulcer0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0200042HP:0200042Skin ulcer0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0200042HP:0200042Skin ulcer0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional100
HP:0200042HP:0200042Skin ulcer0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional45
HP:0200042HP:0200042Skin ulcer0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome.116
HP:0200042HP:0200042Skin ulcer0LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0200042HP:0200042Skin ulcer0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0200042HP:0200042Skin ulcer0LYST CL E G H11301968ORPHA:352723Attenuated Ch├ędiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0200042HP:0200042Skin ulcer0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent22
HP:0200042HP:0200042Skin ulcer0MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0200042HP:0200042Skin ulcer0MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0200042HP:0200042Skin ulcer0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0200042HP:0200042Skin ulcer0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional13
HP:0200042HP:0200042Skin ulcer0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional67
HP:0200042HP:0200042Skin ulcer0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional37
HP:0200042HP:0200042Skin ulcer0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0200042HP:0200042Skin ulcer0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0200042HP:0200042Skin ulcer0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0200042HP:0200042Skin ulcer0NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0200042HP:0200042Skin ulcer0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0200042HP:0200042Skin ulcer0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0200042HP:0200042Skin ulcer0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0200042HP:0200042Skin ulcer0NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosisHP:0040283 - Occasional144
HP:0200042HP:0200042Skin ulcer0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0200042HP:0200042Skin ulcer0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0200042HP:0200042Skin ulcer0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0200042HP:0200042Skin ulcer0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0200042HP:0200042Skin ulcer0OTULIN CL E G H9026825118OMIM:6199863
HP:0200042HP:0200042Skin ulcer0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0200042HP:0200042Skin ulcer0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0200042HP:0200042Skin ulcer0PDGFB CL E G H51558800ORPHA:31112Dermatofibrosarcoma protuberansHP:0040282 - Frequent9
HP:0200042HP:0200042Skin ulcer0PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosisHP:0040283 - Occasional28
HP:0200042HP:0200042Skin ulcer0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0200042HP:0200042Skin ulcer0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0200042HP:0200042Skin ulcer0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0200042HP:0200042Skin ulcer0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040283 - Occasional36
HP:0200042HP:0200042Skin ulcer0PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenitaHP:0040282 - Frequent759
HP:0200042HP:0200042Skin ulcer0PROS1 CL E G H56279456ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiencyHP:0040283 - Occasional75
HP:0200042HP:0200042Skin ulcer0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0200042HP:0200042Skin ulcer0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040281 - Very frequent96
HP:0200042HP:0200042Skin ulcer0PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0200042HP:0200042Skin ulcer0PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040283 - Occasional58
HP:0200042HP:0200042Skin ulcer0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0200042HP:0200042Skin ulcer0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0200042HP:0200042Skin ulcer0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040283 - Occasional88
HP:0200042HP:0200042Skin ulcer0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0200042HP:0200042Skin ulcer0RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB54
HP:0200042HP:0200042Skin ulcer0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0200042HP:0200042Skin ulcer0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0200042HP:0200042Skin ulcer0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0200042HP:0200042Skin ulcer0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0200042HP:0200042Skin ulcer0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare109
HP:0200042HP:0200042Skin ulcer0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare228
HP:0200042HP:0200042Skin ulcer0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare156
HP:0200042HP:0200042Skin ulcer0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0200042HP:0200042Skin ulcer0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0200042HP:0200042Skin ulcer0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0200042HP:0200042Skin ulcer0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC.149
HP:0200042HP:0200042Skin ulcer0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0200042HP:0200042Skin ulcer0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040281 - Very frequent110
HP:0200042HP:0200042Skin ulcer0TAP1 CL E G H689043OMIM:604571Bare lymphocyte syndrome, type I.5
HP:0200042HP:0200042Skin ulcer0TAP2 CL E G H689144OMIM:604571Bare lymphocyte syndrome, type I.17
HP:0200042HP:0200042Skin ulcer0TAPBP CL E G H689211566OMIM:604571Bare lymphocyte syndrome, type I.3
HP:0200042HP:0200042Skin ulcer0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0200042HP:0200042Skin ulcer0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0200042HP:0200042Skin ulcer0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0200042HP:0200042Skin ulcer0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0200042HP:0200042Skin ulcer0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0200042HP:0200042Skin ulcer0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0200042HP:0200042Skin ulcer0TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040281 - Very frequent140
HP:0200042HP:0200042Skin ulcer0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0200042HP:0200042Skin ulcer0TREX1 CL E G H1127712269OMIM:610448Chilblain lupus 1.56
HP:0200042HP:0200042Skin ulcer0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent151
HP:0200042HP:0200042Skin ulcer0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0200042HP:0200042Skin ulcer0UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenitaHP:0040282 - Frequent
HP:0200042HP:0200042Skin ulcer0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0200042HP:0200042Skin ulcer0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0200042HP:0200042Skin ulcer0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0200042HP:0200042Skin ulcer0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0200042HP:0200042Skin ulcer0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0200042HP:0200042Skin ulcer0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0200042HP:0200042Skin ulcer0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0200042HP:0200042Skin ulcer0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0200042HP:0200042Skin ulcer0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0200042HP:0012399Pressure ulcer1 CL E G H
HP:0200042HP:0001026Penetrating foot ulcers1ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0200042HP:0001026Penetrating foot ulcers1ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0200042HP:0031917Digital ulcer1CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0200042HP:0031917Digital ulcer1CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0200042HP:0025452Pyoderma gangrenosum1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0200042HP:0025452Pyoderma gangrenosum1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0200042HP:0001026Penetrating foot ulcers1F12 CL E G H21613530ORPHA:330Congenital factor XII deficiencyHP:0040284 - Very rare28
HP:0200042HP:0025452Pyoderma gangrenosum1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0200042HP:0031917Digital ulcer1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0200042HP:0031917Digital ulcer1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0200042HP:0025452Pyoderma gangrenosum1MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0200042HP:0025452Pyoderma gangrenosum1MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040283 - Occasional281
HP:0200042HP:0031917Digital ulcer1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0200042HP:0025452Pyoderma gangrenosum1NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0200042HP:0031917Digital ulcer1NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0200042HP:0031917Digital ulcer1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0200042HP:0025452Pyoderma gangrenosum1OTULIN CL E G H9026825118OMIM:6199863
HP:0200042HP:0025452Pyoderma gangrenosum1PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0200042HP:0031917Digital ulcer1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0200042HP:0031917Digital ulcer1RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB54
HP:0200042HP:0001026Penetrating foot ulcers1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0200042HP:0031917Digital ulcer1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0200042HP:0001026Penetrating foot ulcers1SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0200042HP:0031917Digital ulcer1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0200042HP:0001026Penetrating foot ulcers1SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0200042HP:0025452Pyoderma gangrenosum1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional
HP:0200042HP:0025452Pyoderma gangrenosum1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional82
HP:0200042HP:0025452Pyoderma gangrenosum1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0200042HP:0031917Digital ulcer1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0200042HP:0006121Acral ulceration2CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040283 - Occasional56
HP:0200042HP:0006121Acral ulceration2CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0200042HP:0006121Acral ulceration2KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0200042HP:0006121Acral ulceration2KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0200042HP:0006121Acral ulceration2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0200042HP:0006121Acral ulceration2NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0200042HP:0006121Acral ulceration2NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0200042HP:0006121Acral ulceration2RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0200042HP:0006121Acral ulceration2RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB.54
HP:0200042HP:0006121Acral ulceration2SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0200042HP:0006121Acral ulceration2SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0200042HP:0006121Acral ulceration2WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199


Genes (132) :ADA2 AK2 ANK1 ANTXR2 AQP5 ATL1 ATL3 ATRX BMS1 BRAF BTK CAV1 CCN2 CCR6 CCT5 CD28 CDH23 CLEC7A CLPB COL1A1 COL3A1 CTC1 CTLA4 CYBA CYBB CYBC1 DKC1 DLL4 DOCK8 ELANE EPB42 EPHB4 F12 GBA1 GBE1 GFI1 GNAQ HAVCR2 HBB HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IDH1 IDH2 IKBKG IL12B IL17F IL17RA IL17RC IRF5 ITGB2 ITGB4 KIAA0319L KIF11 KIF1A KRT1 KRT10 LAMA3 LBR LMNA LYST MBTPS2 MEFV MLX MPV17 NCF1 NCF2 NCF4 NFKB1 NGF NHP2 NOD2 NOP10 NOTCH2 NOTCH3 NPM1 NR3C1 NTRK1 OCRL OTULIN P4HA2 PARN PDGFB PDGFRB PEPD PERP PGM3 PIGL PLEC PROS1 PRTN3 PSTPIP1 PTH1R PTPN22 RASA1 RETREG1 RTEL1 SBF2 SCN9A SLC39A4 SLC4A1 SPTA1 SPTB SPTLC1 SPTLC2 SRP54 STAT3 TAP1 TAP2 TAPBP TCIRG1 TERC TERT TINF2 TNFRSF1B TP53 TP63 TRAF3IP2 TREX1 TRPV3 TYMS UBA2 USB1 USP48 USP8 WAS WDR1 WIPF1 WNK1 WRAP53 WRN

Diseases (78) :OMIM:615688 ORPHA:33355 ORPHA:822 ORPHA:2176 ORPHA:2028 ORPHA:2337 ORPHA:36386 ORPHA:96253 ORPHA:1114 ORPHA:47 ORPHA:220393 ORPHA:220402 ORPHA:139578 OMIM:256840 ORPHA:2584 ORPHA:1334 ORPHA:486 ORPHA:31112 ORPHA:2500 ORPHA:1775 ORPHA:900 ORPHA:379 ORPHA:217390 ORPHA:90186 ORPHA:330 ORPHA:2072 ORPHA:206583 ORPHA:624 ORPHA:86884 ORPHA:231222 ORPHA:231214 ORPHA:231226 ORPHA:397 ORPHA:3287 ORPHA:296 ORPHA:464 OMIM:116920 ORPHA:2526 OMIM:201300 OMIM:614213 ORPHA:312 OMIM:245660 ORPHA:779 ORPHA:79474 ORPHA:352723 ORPHA:659 OMIM:608068 ORPHA:3243 OMIM:256810 OMIM:616576 OMIM:608654 OMIM:186580 ORPHA:90340 ORPHA:955 ORPHA:2591 OMIM:256800 ORPHA:534 OMIM:619986 OMIM:170100 ORPHA:742 ORPHA:443811 ORPHA:3474 ORPHA:743 ORPHA:69126 OMIM:604416 ORPHA:90307 OMIM:613115 ORPHA:99956 ORPHA:37 OMIM:162400 OMIM:613640 ORPHA:2314 OMIM:604571 ORPHA:978 OMIM:610448 ORPHA:906 OMIM:150550 ORPHA:902
 

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