Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormality of skin physiology (HP:0011122)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Inflammatory abnormality of the skin (HP:0011123)help
Term ID: 11123
Name: Inflammatory abnormality of the skin
Synonym: Abnormal tendency to infections of the skin; Dermatitis; Inflammatory abnormality of the skin; Inflammatory skin disease; Skin inflammation
Definition: The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
Comments:
Reference: HP:0011123
Genes and Diseases:
 
       Child Nodes:
........expandEczema (HP:0000964) help
................... HP:0000976 Eczematoid dermatitis
................... HP:0001051 Seborrheic dermatitis
................... HP:0011127 Perioral eczema
........expandSkin rash (HP:0000988) help
................... HP:0007417 Discoid lupus rash
................... HP:0012282 Morbilliform rash
................... HP:0025300 Malar rash
................... HP:0040186 Maculopapular exanthema
................... HP:0040324 Heliotrope rash
................... HP:0040325 Bull's eye rash
........expandErythroderma (HP:0001019) help
................... HP:0007381 Congenital exfoliative erythroderma
........expandAtopic dermatitis (HP:0001047) help
................... HP:0007573 Late onset atopic dermatitis
........expandErysipelas (HP:0001055) help
........expandAcne (HP:0001061) help
................... HP:0040137 Comedonal acne
................... HP:0040154 Acne inversa
........expandRecurrent skin infections (HP:0001581) help
................... HP:0005406 Recurrent bacterial skin infections
................... HP:0011370 Recurrent cutaneous fungal infections
................... HP:0011371 Recurrent viral skin infections
........expandPsoriasiform dermatitis (HP:0003765) help
........expandCrusting erythematous dermatitis (HP:0007473) help
........expandErythema nodosum (HP:0012219) help
........expandPerifolliculitis (HP:0012322) help
........expandFolliculitis (HP:0025084) help
........expandSuperficial dermal perivascular inflammatory infiltrate (HP:0031190) help
........expandDeep dermal perivascular inflammatory infiltrate (HP:0031191) help
........expandNeutrophilic infiltration of the skin (HP:0031234) help
................... HP:0031235 Predominantly epidermal neutrophilic infiltrate
................... HP:0031236 Predominantly dermal neutrophilic infiltrate
........expandCutaneous abscess (HP:0031292) help
................... HP:0009789 Perianal abscess
................... HP:0010771 Pilonidal abscess
................... HP:0100838 Recurrent cutaneous abscess formation
........expandPustule (HP:0200039) help
................... HP:0100847 Palmoplantar pustulosis

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEndocarditis (HP:0100584) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandMyositis (HP:0100614) help
..expandNephritis (HP:0000123) help
..expandOptic neuritis (HP:0100653) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) help
..expandStomatitis (HP:0010280) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011123HP:0011123Inflammatory abnormality of the skin0ADA CL E G H100277ORPHA196215186608958
HP:0011123HP:0011123Inflammatory abnormality of the skin0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0011123HP:0011123Inflammatory abnormality of the skin0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0011123HP:0011123Inflammatory abnormality of the skin1ADA CL E G H100277ORPHA196215186608958
HP:0011123HP:0011123Inflammatory abnormality of the skin1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0011123HP:0011123Inflammatory abnormality of the skin1LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0011123HP:0011123Inflammatory abnormality of the skin2ADA CL E G H100277ORPHA196215186608958
HP:0011123HP:0011123Inflammatory abnormality of the skin2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0011123HP:0011123Inflammatory abnormality of the skin2LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0011123HP:0011123Inflammatory abnormality of the skin3ADA CL E G H100277ORPHA196215186608958
HP:0011123HP:0011123Inflammatory abnormality of the skin3BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0011123HP:0011123Inflammatory abnormality of the skin3LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0011123HP:0011123Inflammatory abnormality of the skin4ADA CL E G H100277ORPHA196215186608958
HP:0011123HP:0011123Inflammatory abnormality of the skin4BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0011123HP:0011123Inflammatory abnormality of the skin4LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (289) :ABCA12 ABCC6 ADA ADA2 ADAM17 ADAMTS3 AGA AIP AIRE AK2 ALOX12B ALOXE3 APOA1 ARVCF B2M BCL11B BLNK BRAF BTD BTK BTNL2 C4A C5 CACNA1G CARD11 CARD14 CARD9 CARMIL2 CASP10 CASP8 CASR CCBE1 CCR1 CD28 CD3G CD79A CD79B CDH23 CDK10 CERS3 CFI CHD7 CHST14 CIITA CLEC7A COL1A1 COL5A1 COL5A2 COL7A1 COMT COX4I2 CSTA CTLA4 CTSB CTSC CYBA CYBB CYBC1 CYP4F22 DCLRE1C DHCR7 DNAJC21 DNASE1L3 DOCK8 DSG1 EBP ECM1 EDA EDAR EDARADD EFL1 EGFR ELANE ENPP1 EPG5 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ESR1 EXTL3 FAM111B FAS FAT4 FECH FERMT1 FERMT3 FGA FGFR2 FLG FLI1 FOXC2 FOXP3 GATA1 GATA3 GINS1 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GLUL GNA11 GP1BB GPIHBP1 GPR101 GTF2H5 H6PD HDAC4 HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HLCS HPGD HSD3B2 HSPA9 HYOU1 IFIH1 IGHM IGLL1 IKBKG IL10 IL10RA IL10RB IL12A IL12A-AS1 IL17F IL17RA IL17RC IL1RN IL23R IL2RA IL2RG IL36RN IL6 IL7R ITGA6 ITGB4 JMJD1C KANSL1 KDF1 KDSR KIF11 KIT KLRC4 KRT1 KRT10 KRT14 KRT16 KRT17 KRT5 KRT9 LACC1 LAMA3 LAMB3 LAMC2 LBR LHCGR LIG4 LIPN LMBRD1 LMF1 LPIN2 LRRC8A LYST LYZ MBTPS2 MCCC2 MEFV MEIS2 MIF MNX1 MPDU1 MSMO1 MSN MVK MYD88 MYSM1 NCF1 NCF2 NCF4 NCSTN NEK9 NFKB1 NFKB2 NIPAL4 NLRC4 NLRP12 NLRP3 NOD2 NR3C1 NSMCE3 NSUN2 PAH PAPSS2 PCCA PCCB PDGFRA PEPD PGM3 PIGA PIK3CA PIK3R1 PNPLA1 POMP POR PRKACA PRTN3 PSEN1 PSENEN PSMB4 PSMB8 PSMB9 PSTPIP1 PTPN22 PTPRC RAG1 RAG2 RBCK1 RBM8A RBP4 RFX5 RFXANK RFXAP RIPK1 RMRP RNU4ATAC RREB1 SBDS SDHA SDHB SDHC SDR9C7 SEC24C SH3PXD2B SHANK3 SHOC2 SIK3 SLC29A3 SLC30A2 SLC39A4 SLC6A19 SLCO2A1 SMARCA2 SMARCAD1 SP110 SPINK5 SRD5A3 SRP54 STAT1 STAT3 STAT4 SULT2B1 SUOX TAF1 TBX1 TCF3 TEK TFRC TGM1 TGM5 TLR4 TMC6 TMC8 TMEM173 TNFAIP3 TNFRSF1A TNFRSF1B TP63 TRAF3IP2 TRAF6 TRPM1 TTC7A UBAC2 UFD1 UROS USP8 WAS WIPF1 WNT4 XIAP ZAP70 ZNF341 ZNF750

Diseases (253) :277 617237 609628 79394 457 313 758 39041 615688 614328 2136 208400 963 33355 105200 567 33110 253260 47 797 117 458803 2897 602723 607271 428 235510 2584 3162 615607 96253 610984 601776 1334 287 79409 612714 263534 900 616100 50943 678 379 604777 603554 270400 811 617052 36412 243700 615508 302960 530 305100 1810 616069 2686 220295 601675 785 615363 617425 615704 79278 177000 2908 612840 101200 617443 2308 33001 304790 79277 2237 617827 317 602540 613480 610015 616395 604931 1001 703 85414 253270 1525 2796 90791 233600 464 612567 613953 612852 606367 300400 614204 608971 79403 610443 2526 44890 280785 79503 312 113800 2199 609165 79396 167210 158681 79404 779 169400 3000 235 606593 79284 277380 77297 2273 308205 308800 342 261190 609180 616834 300988 260920 618116 616576 293978 615577 612281 616050 611762 575 90340 186580 786 617241 611091 79254 261600 612847 606054 742 170100 615816 615024 618048 95699 615830 613737 613736 617591 2615 69126 604416 615895 618108 616651 137834 249420 48652 607721 618162 168569 608118 37 2116 3051 601358 1658 634 256500 612379 391487 614162 2314 615952 147060 272300 300966 188400 1059 242300 302 615934 616744 32960 142680 69085 103285 613216 436252 243150 906 313900 301000 614493 247768 158330 300635 115150 79241 617638 618131 603909 617694 245010 233690 306400 217390 146700 477 148210 444490 79242 259100 616854 615846 613148 617337 167 214500 210210 176450 610377 183713 233700 233710 613960 142690 614262 300868 276280 274000 615147 269840 618282 610227 3453 240300 300755 307200 609536 209920 242840 613956 79124 212050 613108 616740
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.