Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin physiology (HP:0011122)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Inflammatory abnormality of the skin (HP:0011123)help
..Starting node
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Skin rash (HP:0000988)help
Term ID: 988
Name: Skin rash
Synonym: Rash; Skin rash
Definition: A red eruption of the skin.
Comments:
Reference: HP:0000988
Genes and Diseases:
 
       Child Nodes:
........expandDiscoid lupus rash (HP:0007417) help
........expandMorbilliform rash (HP:0012282) help
........expandMalar rash (HP:0025300) help
........expandMaculopapular exanthema (HP:0040186) help
........expandHeliotrope rash (HP:0040324) help
................... HP:0030845 Heliotrope rash of eyelid
........expandBull's eye rash (HP:0040325) help

 Sister Nodes: 
..expandAcne (HP:0001061) help
..expandAtopic dermatitis (HP:0001047) help
..expandCrusting erythematous dermatitis (HP:0007473) help
..expandCutaneous abscess (HP:0031292) help
..expandDeep dermal perivascular inflammatory infiltrate (HP:0031191) help
..expandEczema (HP:0000964) help
..expandErysipelas (HP:0001055) help
..expandErythema nodosum (HP:0012219) help
..expandErythroderma (HP:0001019) help
..expandFolliculitis (HP:0025084) help
..expandNeutrophilic infiltration of the skin (HP:0031234) help
..expandPerifolliculitis (HP:0012322) help
..expandPsoriasiform dermatitis (HP:0003765) help
..expandPustule (HP:0200039) help
..expandRecurrent skin infections (HP:0001581) help
..expandSuperficial dermal perivascular inflammatory infiltrate (HP:0031190) 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:0000988HP:0000988Skin rash0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent415
HP:0000988HP:0000988Skin rash0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040284 - Very rare16
HP:0000988HP:0000988Skin rash0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0000988HP:0000988Skin rash0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000988HP:0000988Skin rash0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040283 - Occasional19
HP:0000988HP:0000988Skin rash0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosis150
HP:0000988HP:0000988Skin rash0APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral.40
HP:0000988HP:0000988Skin rash0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0000988HP:0000988Skin rash0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0000988HP:0000988Skin rash0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0000988HP:0000988Skin rash0B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral.8
HP:0000988HP:0000988Skin rash0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0000988HP:0000988Skin rash0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0000988HP:0000988Skin rash0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0000988HP:0000988Skin rash0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040282 - Frequent223
HP:0000988HP:0000988Skin rash0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0000988HP:0000988Skin rash0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0000988HP:0000988Skin rash0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0000988HP:0000988Skin rash0CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0000988HP:0000988Skin rash0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0000988HP:0000988Skin rash0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0000988HP:0000988Skin rash0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0000988HP:0000988Skin rash0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0000988HP:0000988Skin rash0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000988HP:0000988Skin rash0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000988HP:0000988Skin rash0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional118
HP:0000988HP:0000988Skin rash0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent3
HP:0000988HP:0000988Skin rash0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040282 - Frequent
HP:0000988HP:0000988Skin rash0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0000988HP:0000988Skin rash0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent10
HP:0000988HP:0000988Skin rash0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0000988HP:0000988Skin rash0CTLA4 CL E G H14932505OMIM:152700Systemic lupus erythematosus10
HP:0000988HP:0000988Skin rash0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE27
HP:0000988HP:0000988Skin rash0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0000988HP:0000988Skin rash0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0000988HP:0000988Skin rash0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0000988HP:0000988Skin rash0DNASE1 CL E G H17732956OMIM:152700Systemic lupus erythematosus3
HP:0000988HP:0000988Skin rash0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040281 - Very frequent3
HP:0000988HP:0000988Skin rash0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0000988HP:0000988Skin rash0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0000988HP:0000988Skin rash0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent151
HP:0000988HP:0000988Skin rash0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosis51
HP:0000988HP:0000988Skin rash0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0000988HP:0000988Skin rash0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0000988HP:0000988Skin rash0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0000988HP:0000988Skin rash0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0000988HP:0000988Skin rash0FCGR2A CL E G H22123616OMIM:152700Systemic lupus erythematosus6
HP:0000988HP:0000988Skin rash0FCGR2B CL E G H22133618OMIM:152700Systemic lupus erythematosus2
HP:0000988HP:0000988Skin rash0FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral.47
HP:0000988HP:0000988Skin rash0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent68
HP:0000988HP:0000988Skin rash0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent74
HP:0000988HP:0000988Skin rash0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent12
HP:0000988HP:0000988Skin rash0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0000988HP:0000988Skin rash0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0000988HP:0000988Skin rash0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0000988HP:0000988Skin rash0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0000988HP:0000988Skin rash0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0000988HP:0000988Skin rash0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0000988HP:0000988Skin rash0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0000988HP:0000988Skin rash0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000988HP:0000988Skin rash0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0000988HP:0000988Skin rash0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000988HP:0000988Skin rash0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000988HP:0000988Skin rash0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0000988HP:0000988Skin rash0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0000988HP:0000988Skin rash0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent14
HP:0000988HP:0000988Skin rash0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent196
HP:0000988HP:0000988Skin rash0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000988HP:0000988Skin rash0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0000988HP:0000988Skin rash0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0000988HP:0000988Skin rash0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked.48
HP:0000988HP:0000988Skin rash0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040282 - Frequent48
HP:0000988HP:0000988Skin rash0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0000988HP:0000988Skin rash0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0000988HP:0000988Skin rash0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040284 - Very rare140
HP:0000988HP:0000988Skin rash0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent4
HP:0000988HP:0000988Skin rash0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0000988HP:0000988Skin rash0KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional327
HP:0000988HP:0000988Skin rash0LACC1 CL E G H14481126789OMIM:618795JUVENILE ARTHRITIS; JUVAR1
HP:0000988HP:0000988Skin rash0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0000988HP:0000988Skin rash0LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0000988HP:0000988Skin rash0LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0000988HP:0000988Skin rash0LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0000988HP:0000988Skin rash0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblFHP:0040283 - Occasional46
HP:0000988HP:0000988Skin rash0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0000988HP:0000988Skin rash0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0000988HP:0000988Skin rash0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000988HP:0000988Skin rash0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0000988HP:0000988Skin rash0LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral.32
HP:0000988HP:0000988Skin rash0MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040283 - Occasional281
HP:0000988HP:0000988Skin rash0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0000988HP:0000988Skin rash0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0000988HP:0000988Skin rash0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0000988HP:0000988Skin rash0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0000988HP:0000988Skin rash0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I13
HP:0000988HP:0000988Skin rash0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II67
HP:0000988HP:0000988Skin rash0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0000988HP:0000988Skin rash0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 2.99
HP:0000988HP:0000988Skin rash0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0000988HP:0000988Skin rash0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0000988HP:0000988Skin rash0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0000988HP:0000988Skin rash0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0000988HP:0000988Skin rash0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040281 - Very frequent187
HP:0000988HP:0000988Skin rash0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0000988HP:0000988Skin rash0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0000988HP:0000988Skin rash0PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional337
HP:0000988HP:0000988Skin rash0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0000988HP:0000988Skin rash0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0000988HP:0000988Skin rash0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0000988HP:0000988Skin rash0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0000988HP:0000988Skin rash0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0000988HP:0000988Skin rash0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0000988HP:0000988Skin rash0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000988HP:0000988Skin rash0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000988HP:0000988Skin rash0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0000988HP:0000988Skin rash0PTPN22 CL E G H261919652OMIM:152700Systemic lupus erythematosus3
HP:0000988HP:0000988Skin rash0PTPRC CL E G H57889666OMIM:61992425
HP:0000988HP:0000988Skin rash0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional127
HP:0000988HP:0000988Skin rash0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional50
HP:0000988HP:0000988Skin rash0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional38
HP:0000988HP:0000988Skin rash0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional26
HP:0000988HP:0000988Skin rash0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional34
HP:0000988HP:0000988Skin rash0RIPK1 CL E G H873710019OMIM:618108IMMUNODEFICIENCY 57; IMD57
HP:0000988HP:0000988Skin rash0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0000988HP:0000988Skin rash0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0000988HP:0000988Skin rash0SDHA CL E G H638910680ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional304
HP:0000988HP:0000988Skin rash0SDHB CL E G H639010681ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional237
HP:0000988HP:0000988Skin rash0SDHC CL E G H639110682ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional147
HP:0000988HP:0000988Skin rash0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosis109
HP:0000988HP:0000988Skin rash0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040282 - Frequent12
HP:0000988HP:0000988Skin rash0SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndromeHP:0040282 - Frequent6
HP:0000988HP:0000988Skin rash0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040283 - Occasional100
HP:0000988HP:0000988Skin rash0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0000988HP:0000988Skin rash0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosis228
HP:0000988HP:0000988Skin rash0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosis156
HP:0000988HP:0000988Skin rash0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0000988HP:0000988Skin rash0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0000988HP:0000988Skin rash0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040281 - Very frequent110
HP:0000988HP:0000988Skin rash0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0000988HP:0000988Skin rash0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent2
HP:0000988HP:0000988Skin rash0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0000988HP:0000988Skin rash0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0000988HP:0000988Skin rash0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0000988HP:0000988Skin rash0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0000988HP:0000988Skin rash0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0000988HP:0000988Skin rash0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0000988HP:0000988Skin rash0TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040281 - Very frequent78
HP:0000988HP:0000988Skin rash0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0000988HP:0000988Skin rash0TLR7 CL E G H5128415631OMIM:301080
HP:0000988HP:0000988Skin rash0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0000988HP:0000988Skin rash0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0000988HP:0000988Skin rash0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040281 - Very frequent131
HP:0000988HP:0000988Skin rash0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0000988HP:0000988Skin rash0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0000988HP:0000988Skin rash0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040284 - Very rare56
HP:0000988HP:0000988Skin rash0TREX1 CL E G H1127712269OMIM:152700Systemic lupus erythematosus56
HP:0000988HP:0000988Skin rash0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0000988HP:0000988Skin rash0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000988HP:0000988Skin rash0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0000988HP:0000988Skin rash0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000988HP:0033697Vesicular eruption1 CL E G H
HP:0000988HP:0040325Bull's eye rash1 CL E G H
HP:0000988HP:0040324Heliotrope rash1 CL E G H
HP:0000988HP:0033700Papulovesicular eruption1 CL E G H
HP:0000988HP:4000054Exanthem1ANK1 CL E G H286492ORPHA:822Hereditary spherocytosis150
HP:0000988HP:4000054Exanthem1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0000988HP:0025300Malar rash1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0000988HP:4000054Exanthem1BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0000988HP:0025300Malar rash1CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA.87
HP:0000988HP:4000054Exanthem1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0000988HP:0025300Malar rash1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000988HP:0025300Malar rash1CTLA4 CL E G H14932505OMIM:152700Systemic lupus erythematosus.10
HP:0000988HP:0007417Discoid lupus rash1CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0000988HP:0007417Discoid lupus rash1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0000988HP:0025300Malar rash1DNASE1 CL E G H17732956OMIM:152700Systemic lupus erythematosus.3
HP:0000988HP:4000054Exanthem1EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosis51
HP:0000988HP:0025300Malar rash1FCGR2A CL E G H22123616OMIM:152700Systemic lupus erythematosus.6
HP:0000988HP:0025300Malar rash1FCGR2B CL E G H22133618OMIM:152700Systemic lupus erythematosus.2
HP:0000988HP:4000054Exanthem1HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0000988HP:4000054Exanthem1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0000988HP:0033605Pustular rash1IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0000988HP:0025300Malar rash1IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0000988HP:0007417Discoid lupus rash1IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0000988HP:4000054Exanthem1KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0000988HP:0007417Discoid lupus rash1LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0000988HP:4000054Exanthem1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0000988HP:0007417Discoid lupus rash1NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0000988HP:0007417Discoid lupus rash1NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0000988HP:4000054Exanthem1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0000988HP:4000054Exanthem1PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosis58
HP:0000988HP:0025300Malar rash1PTPN22 CL E G H261919652OMIM:152700Systemic lupus erythematosus.3
HP:0000988HP:4000054Exanthem1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0000988HP:4000054Exanthem1SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosis109
HP:0000988HP:0025300Malar rash1SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0000988HP:0007417Discoid lupus rash1SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0000988HP:4000054Exanthem1SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosis228
HP:0000988HP:4000054Exanthem1SPTB CL E G H671011274ORPHA:822Hereditary spherocytosis156
HP:0000988HP:4000054Exanthem1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0000988HP:0007417Discoid lupus rash1STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional2
HP:0000988HP:0025300Malar rash1STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional2
HP:0000988HP:0033605Pustular rash1STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0000988HP:0025300Malar rash1STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0000988HP:4000054Exanthem1STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosis85
HP:0000988HP:4000054Exanthem1STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosis70
HP:0000988HP:0033605Pustular rash1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0000988HP:4000054Exanthem1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0000988HP:0025300Malar rash1TLR7 CL E G H5128415631OMIM:301080
HP:0000988HP:4000054Exanthem1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0000988HP:0025300Malar rash1TREX1 CL E G H1127712269OMIM:152700Systemic lupus erythematosus.56
HP:0000988HP:4000054Exanthem1UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosis116
HP:0000988HP:4000054Exanthem1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000988HP:0033699Polymorphic vesicular eruption2 CL E G H
HP:0000988HP:0033698Monomorphic vesicular eruption2 CL E G H
HP:0000988HP:0030845Heliotrope rash of eyelid2 CL E G H
HP:0000988HP:0040186Maculopapular exanthema2ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional150
HP:0000988HP:0040186Maculopapular exanthema2ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0000988HP:0040186Maculopapular exanthema2BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000988HP:0040186Maculopapular exanthema2CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0000988HP:0040186Maculopapular exanthema2EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional51
HP:0000988HP:0040186Maculopapular exanthema2HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000988HP:0040186Maculopapular exanthema2IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0000988HP:0040186Maculopapular exanthema2KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0000988HP:0012282Morbilliform rash2MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0000988HP:0040186Maculopapular exanthema2NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0000988HP:0040186Maculopapular exanthema2PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional58
HP:0000988HP:0040186Maculopapular exanthema2RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0000988HP:0040186Maculopapular exanthema2SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional109
HP:0000988HP:0040186Maculopapular exanthema2SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional228
HP:0000988HP:0040186Maculopapular exanthema2SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional156
HP:0000988HP:0040186Maculopapular exanthema2SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0000988HP:0040186Maculopapular exanthema2STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional85
HP:0000988HP:0040186Maculopapular exanthema2STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional70
HP:0000988HP:0040186Maculopapular exanthema2TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0000988HP:0040186Maculopapular exanthema2TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0000988HP:0040186Maculopapular exanthema2UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional116
HP:0000988HP:0040186Maculopapular exanthema2ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91


Genes (138) :ABCC6 ACP5 ADA ADA2 AK2 ANK1 APOA1 ARHGEF2 ARPC1B ASXL1 B2M BLM BLNK BTD BTK BTNL2 CASP10 CBL CD28 CD79A CD79B CDK10 CIC CIITA CLEC7A CLTRN COX4I2 CTLA4 CYBA CYBB DCLRE1C DNAJC21 DNASE1 DNASE1L3 EFL1 ELF4 ENPP1 EPB42 ERCC2 ERCC3 ERCC4 ERCC5 FCGR2A FCGR2B FGA GJA1 GJB3 GJB4 HLA-DPA1 HLA-DPB1 HLA-DRB1 HLCS IFIH1 IFNG IGHG2 IGHM IGKC IGLL1 IKBKG IL17F IL17RA IL17RC IL1RN IL2RG IL6 IRAK1 JAK3 KDSR KIT LACC1 LBR LCP2 LEMD3 LMBRD1 LPIN2 LRRC8A LYST LYZ MEFV MIF MVK NAXD NCF1 NCF2 NLRC4 NLRP12 NLRP3 NOD2 OTULIN PDGFRA PIK3R1 POMP PRF1 PRTN3 PSMB10 PSMB4 PSMB9 PTPN22 PTPRC RAG1 RAG2 RFX5 RFXANK RFXAP RIPK1 RUNX1 SBDS SDHA SDHB SDHC SLC4A1 SLC6A19 SMARCAD1 SPINK5 SPP1 SPTA1 SPTB SRP54 SRSF2 STAT3 STAT4 STING1 STX11 STXBP2 SYK TCF3 TEK TET2 TLR7 TNFAIP3 TNFRSF1A TNFRSF1B TRAF3IP2 TREX1 UNC13D USB1 ZAP70 ZNFX1

Diseases (97) :ORPHA:758 ORPHA:1855 OMIM:102700 OMIM:615688 ORPHA:33355 ORPHA:822 OMIM:105200 OMIM:617523 OMIM:617718 ORPHA:98850 OMIM:210900 ORPHA:125 ORPHA:33110 ORPHA:79241 OMIM:253260 ORPHA:47 ORPHA:797 OMIM:603909 ORPHA:2584 OMIM:617694 OMIM:617600 ORPHA:572 ORPHA:1334 ORPHA:2116 OMIM:612714 ORPHA:900 OMIM:152700 OMIM:233690 OMIM:306400 ORPHA:275 ORPHA:811 ORPHA:36412 OMIM:301074 ORPHA:220295 ORPHA:317 ORPHA:85414 OMIM:253270 OMIM:615846 OMIM:618963 ORPHA:183675 OMIM:308300 ORPHA:464 OMIM:613953 OMIM:612852 OMIM:300400 ORPHA:276 ORPHA:93552 ORPHA:35078 ORPHA:79455 ORPHA:44890 OMIM:618795 ORPHA:779 OMIM:619374 ORPHA:166119 ORPHA:79284 OMIM:277380 OMIM:609628 ORPHA:167 ORPHA:342 OMIM:260920 OMIM:610377 OMIM:618321 OMIM:233700 OMIM:233710 OMIM:616050 OMIM:611762 OMIM:607115 OMIM:120100 ORPHA:575 OMIM:191900 ORPHA:90340 OMIM:617321 OMIM:617099 OMIM:618048 ORPHA:540 OMIM:603553 OMIM:619175 OMIM:617591 OMIM:619924 ORPHA:331206 OMIM:618108 ORPHA:1658 ORPHA:634 ORPHA:2314 OMIM:147060 OMIM:615934 OMIM:603552 OMIM:619381 ORPHA:1059 OMIM:301080 OMIM:616744 OMIM:142680 ORPHA:32960 ORPHA:247691 OMIM:604173 ORPHA:911 OMIM:619644
 

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