Human Phenotype Ontology 
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All (HP:0000001)help
..Starting node
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Clinical modifier (HP:0012823)help
Term ID: 12823
Name: Clinical modifier
Synonym: Phenotypic modifier
Definition: This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.
Comments:
Reference: HP:0012823
Genes and Diseases:
 
       Child Nodes:
........expandPhenotypic variability (HP:0003812) help
................... HP:0003828 Variable expressivity
................... HP:0003829 Incomplete penetrance
........expandSeverity (HP:0012824) help
................... HP:0012825 Mild
................... HP:0012826 Moderate
................... HP:0012827 Borderline
................... HP:0012828 Severe
................... HP:0012829 Profound
........expandPosition (HP:0012830) help
................... HP:0012831 Laterality
................... HP:0012836 Spatial pattern
........expandTriggered by (HP:0025204) help
................... HP:0025205 Triggered by breast feeding
................... HP:0025206 Triggered by cold
................... HP:0025207 Triggered by dehydration
................... HP:0025208 Triggered by carbohydrate ingestion
................... HP:0025211 Triggered by ethanol ingestion
................... HP:0025212 Triggered by fasting
................... HP:0025214 Triggered by heat
................... HP:0025215 Triggered by febrile illness
................... HP:0025216 Triggered by heavy meal
................... HP:0025217 Triggered by high-fat diet
................... HP:0025218 Triggered by hyperventilation
................... HP:0025219 Triggered by vaccination
................... HP:0025220 Triggered by menstruation
................... HP:0025221 Triggered by pregnancy
................... HP:0025222 Triggered by sleep deprivation
................... HP:0025223 Triggered by smoking
................... HP:0025224 Triggered by sodium ingestion
................... HP:0025225 Triggered by sound
................... HP:0025226 Triggered by stress
................... HP:0025227 Triggered by excitement
................... HP:0025228 Triggered by sudden movement
................... HP:0025229 Triggered by vestibular stimulation
................... HP:0025334 Triggered by emotion
................... HP:0025377 Triggered by exertion
................... HP:0031135 Triggered by physical trauma
................... HP:0031167 Triggered by ingestion of potassium-rich food
........expandAmeliorated by (HP:0025254) help
................... HP:0025255 Ameliorated by pregnancy
................... HP:0025256 Ameliorated by heat
................... HP:0025257 Ameliorated by carbohydrate ingestion
........expandPain characteristic (HP:0025280) help
................... HP:0025281 Sharp
................... HP:0025282 Dull
................... HP:0025283 Tender
................... HP:0025284 Sleep-interrupting
........expandAggravated by (HP:0025285) help
................... HP:0025286 Aggravated by activity
................... HP:0025315 Exacerbated by head trauma
........expandRefractory (HP:0031375) help

 Sister Nodes: 
..expandClinical course (HP:0031797) help
..expandFrequency (HP:0040279) help
..expandMode of inheritance (HP:0000005) help
..expandPhenotypic abnormality (HP:0000118) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012823HP:0012823Clinical modifier0 CL E G H
HP:0012823HP:0045088Clinical relevance1 CL E G H
HP:0012823HP:0003812Phenotypic variability1 CL E G H
HP:0012823HP:0012830Position1 CL E G H
HP:0012823HP:0025254Ameliorated by1 CL E G H
HP:0012823HP:0025204Triggered by1 CL E G H
HP:0012823HP:0031797Clinical course1 CL E G H
HP:0012823HP:4000042Fracture type1 CL E G H
HP:0012823HP:0025280Pain characteristic1 CL E G H
HP:0012823HP:0025285Aggravated by1 CL E G H
HP:0012823HP:0012824Severity1 CL E G H
HP:0012823HP:0410401Worse in evening1 CL E G H
HP:0012823HP:0031375Refractory1 CL E G H
HP:0012823HP:0025256Ameliorated by heat2 CL E G H
HP:0012823HP:0025207Triggered by dehydration2 CL E G H
HP:0012823HP:0033184Triggered by infection2 CL E G H
HP:0012823HP:0040006Mortality/Aging2 CL E G H
HP:0012823HP:4000052Avulsion fracture2 CL E G H
HP:0012823HP:0025212Triggered by fasting2 CL E G H
HP:0012823HP:0025286Aggravated by activity2 CL E G H
HP:0012823HP:0031135Triggered by physical trauma2 CL E G H
HP:0012823HP:4000053Displaced fracture2 CL E G H
HP:0012823HP:0025315Exacerbated by head trauma2 CL E G H
HP:0012823HP:0025223Triggered by smoking2 CL E G H
HP:0012823HP:4000049Segmental fracture2 CL E G H
HP:0012823HP:0012825Mild2 CL E G H
HP:0012823HP:0025219Triggered by vaccination2 CL E G H
HP:0012823HP:0025282Dull2 CL E G H
HP:0012823HP:0011008Temporal pattern2 CL E G H
HP:0012823HP:0025283Tender2 CL E G H
HP:0012823HP:0025206Triggered by cold2 CL E G H
HP:0012823HP:0025218Triggered by hyperventilation2 CL E G H
HP:0012823HP:0003828Variable expressivity2 CL E G H
HP:0012823HP:0025377Triggered by exertion2 CL E G H
HP:0012823HP:0032525Aggravated by acetylcholinesterase inhibitor2 CL E G H
HP:0012823HP:0025220Triggered by menstruation2 CL E G H
HP:0012823HP:4000047Compression fracture2 CL E G H
HP:0012823HP:0032501Exacerbated by contraceptive medication2 CL E G H
HP:0012823HP:0025222Triggered by sleep deprivation2 CL E G H
HP:0012823HP:4000050Open fracture2 CL E G H
HP:0012823HP:0012827Borderline2 CL E G H
HP:0012823HP:0032500Exacerbated by tobacco use2 CL E G H
HP:0012823HP:0025228Triggered by sudden movement2 CL E G H
HP:0012823HP:0003674Onset2 CL E G H
HP:0012823HP:0012828Severe2 CL E G H
HP:0012823HP:0032503Ameliorated by ethanol ingestion2 CL E G H
HP:0012823HP:0025284Sleep-interrupting2 CL E G H
HP:0012823HP:0500261Triggered by anesthetics2 CL E G H
HP:0012823HP:0025214Triggered by heat2 CL E G H
HP:0012823HP:0025255Ameliorated by pregnancy2 CL E G H
HP:0012823HP:0045090Minor finding2 CL E G H
HP:0012823HP:0025227Triggered by excitement2 CL E G H
HP:0012823HP:4000048Comminuted fracture2 CL E G H
HP:0012823HP:0033793Triggered by food ingestion2 CL E G H
HP:0012823HP:0032502Exacerbated by barbiturate medication2 CL E G H
HP:0012823HP:0025221Triggered by pregnancy2 CL E G H
HP:0012823HP:4000046Oblique fracture2 CL E G H
HP:0012823HP:0003679Pace of progression2 CL E G H
HP:0012823HP:0012836Spatial pattern2 CL E G H
HP:0012823HP:0032542Exacerbated by pregnancy2 CL E G H
HP:0012823HP:0025226Triggered by stress2 CL E G H
HP:0012823HP:4000044Transverse fracture2 CL E G H
HP:0012823HP:0012829Profound2 CL E G H
HP:0012823HP:0025257Ameliorated by carbohydrate ingestion2 CL E G H
HP:0012823HP:0032522Ameliorated by immunosuppresion2 CL E G H
HP:0012823HP:0045089Distinctive finding2 CL E G H
HP:0012823HP:0003829Incomplete penetrance2 CL E G H
HP:0012823HP:0025334Triggered by emotion2 CL E G H
HP:0012823HP:4000051Closed fracture2 CL E G H
HP:0012823HP:0012831Laterality2 CL E G H
HP:0012823HP:0025215Triggered by febrile illness2 CL E G H
HP:0012823HP:0032365Exacerbated by aspirin ingestion2 CL E G H
HP:0012823HP:4000043Greenstick fracture2 CL E G H
HP:0012823HP:0032534Exacerbated by methylxanthine ingestion2 CL E G H
HP:0012823HP:0025225Triggered by sound2 CL E G H
HP:0012823HP:4000045Spiral fracture2 CL E G H
HP:0012823HP:0012826Moderate2 CL E G H
HP:0012823HP:0032526Ameliorated by acetylcholinesterase inhibitor2 CL E G H
HP:0012823HP:0025229Triggered by vestibular stimulation2 CL E G H
HP:0012823HP:0025281Sharp2 CL E G H
HP:0012823HP:0033032Triggered by an abusive adult2 CL E G H
HP:0012823HP:0030649Pericentral3 CL E G H
HP:0012823HP:0030674Antenatal onset3 CL E G H
HP:0012823HP:0012839Distal3 CL E G H
HP:0012823HP:0031450Polycyclic3 CL E G H
HP:0012823HP:0003623Neonatal onset3 CL E G H
HP:0012823HP:0003587Insidious onset3 CL E G H
HP:0012823HP:0025295Herpetiform3 CL E G H
HP:0012823HP:0025290Upper-body predominance3 CL E G H
HP:0012823HP:0012834Right3 CL E G H
HP:0012823HP:0025208Triggered by carbohydrate ingestion3 CL E G H
HP:0012823HP:0031796Recurrent3 CL E G H
HP:0012823HP:0012838Localized3 CL E G H
HP:0012823HP:0003676Progressive3 CL E G H
HP:0012823HP:0033820Apical3 CL E G H
HP:0012823HP:0033789Triggered by cheese ingestion3 CL E G H
HP:0012823HP:0025296Morbilliform3 CL E G H
HP:0012823HP:0003581Adult onset3 CL E G H
HP:0012823HP:0033816Centrilobular3 CL E G H
HP:0012823HP:0031167Triggered by ingestion of potassium-rich food3 CL E G H
HP:0012823HP:0033814Paraseptal3 CL E G H
HP:0012823HP:0020034Diffuse3 CL E G H
HP:0012823HP:0030646Peripheral3 CL E G H
HP:0012823HP:0003577Congenital onset3 CL E G H
HP:0012823HP:0031914Fluctuating3 CL E G H
HP:0012823HP:0012837Generalized3 CL E G H
HP:0012823HP:0033818Reticular3 CL E G H
HP:0012823HP:0012835Left3 CL E G H
HP:0012823HP:0025205Triggered by breast feeding3 CL E G H
HP:0012823HP:0025297Prolonged3 CL E G H
HP:0012823HP:0025275Lateral3 CL E G H
HP:0012823HP:0003680Nonprogressive3 CL E G H
HP:0012823HP:0025292Acral3 CL E G H
HP:0012823HP:0033817Miliary3 CL E G H
HP:0012823HP:0003682Variable progression rate3 CL E G H
HP:0012823HP:0030645Central3 CL E G H
HP:0012823HP:0025217Triggered by high-fat diet3 CL E G H
HP:0012823HP:0025153Transient3 CL E G H
HP:0012823HP:0025294Dermatomal3 CL E G H
HP:0012823HP:0033819Perilymphatic3 CL E G H
HP:0012823HP:0003831Age-dependent penetrance3 CL E G H
HP:0012823HP:0025302Diurnal3 CL E G H
HP:0012823HP:0030650Focal3 CL E G H
HP:0012823HP:0012840Proximal3 CL E G H
HP:0012823HP:0012832Bilateral3 CL E G H
HP:0012823HP:0025301Nocturnal3 CL E G H
HP:0012823HP:0032540Joint flexor surface localization3 CL E G H
HP:0012823HP:0030648Midperipheral3 CL E G H
HP:0012823HP:0003677Slowly progressive3 CL E G H
HP:0012823HP:0033815Bronchocentric3 CL E G H
HP:0012823HP:0025216Triggered by heavy meal3 CL E G H
HP:0012823HP:0011011Subacute3 CL E G H
HP:0012823HP:0030647Paracentral3 CL E G H
HP:0012823HP:0011009Acute3 CL E G H
HP:0012823HP:0032535Cervical (neck)3 CL E G H
HP:0012823HP:0025224Triggered by sodium ingestion3 CL E G H
HP:0012823HP:0033813Perilobular3 CL E G H
HP:0012823HP:0011010Chronic3 CL E G H
HP:0012823HP:0025293Distributed along Blaschko lines3 CL E G H
HP:0012823HP:0033198Triggered by viral infection3 CL E G H
HP:0012823HP:0011420Age of death3 CL E G H
HP:0012823HP:0032544Predominant small joint localization3 CL E G H
HP:0012823HP:0410280Pediatric onset3 CL E G H
HP:0012823HP:0025279Migratory3 CL E G H
HP:0012823HP:0032539Joint extensor surface localization3 CL E G H
HP:0012823HP:0500260Triggered by head trauma3 CL E G H
HP:0012823HP:4000040Puerpural onset3 CL E G H
HP:0012823HP:0012833Unilateral3 CL E G H
HP:0012823HP:0025291Lower-body predominance3 CL E G H
HP:0012823HP:0003678Rapidly progressive3 CL E G H
HP:0012823HP:0025287Axial3 CL E G H
HP:0012823HP:0025211Triggered by ethanol ingestion3 CL E G H
HP:0012823HP:0031915Stable3 CL E G H
HP:0012823HP:0030651Multifocal3 CL E G H
HP:0012823HP:0025306Acute emergence over minutes4 CL E G H
HP:0012823HP:0003621Juvenile onset4 CL E G H
HP:0012823HP:0001522Death in infancy4 CL E G H
HP:0012823HP:0033349Seizure cluster4 CL E G H
HP:0012823HP:0011462Young adult onset4 CL E G H
HP:0012823HP:0025307Acute emergence over hours4 CL E G H
HP:0012823HP:0033763Death in adulthood4 CL E G H
HP:0012823HP:0003593Infantile onset4 CL E G H
HP:0012823HP:0003819Death in childhood4 CL E G H
HP:0012823HP:0025210Triggered by glucose ingestion4 CL E G H
HP:0012823HP:0003596Middle age onset4 CL E G H
HP:0012823HP:0025308Acute emergence over days4 CL E G H
HP:0012823HP:0011461Fetal onset4 CL E G H
HP:0012823HP:0033185Triggered by EBV infection4 CL E G H
HP:0012823HP:0011421Death in adolescence4 CL E G H
HP:0012823HP:0011463Childhood onset4 CL E G H
HP:0012823HP:0025213Triggered by galactose ingestion4 CL E G H
HP:0012823HP:0025304Periodic4 CL E G H
HP:0012823HP:0003826Stillbirth4 CL E G H
HP:0012823HP:0011460Embryonal onset4 CL E G H
HP:0012823HP:0025209Triggered by fructose ingestion4 CL E G H
HP:0012823HP:0025303Episodic4 CL E G H
HP:0012823HP:0003811Neonatal death4 CL E G H
HP:0012823HP:0003584Late onset4 CL E G H
HP:0012823HP:0100613Death in early adulthood5 CL E G H
HP:0012823HP:0025305Quotidian5 CL E G H
HP:0012823HP:0033764Death in middle age5 CL E G H
HP:0012823HP:0033765Death in late adulthood5 CL E G H


Genes (1458) :AAAS AARS AARS2 AASS ABAT ABCA3 ABCB11 ABCB4 ABCB7 ABCC8 ABCD1 ABCD3 ABCD4 ABHD12 ACADS ACADSB ACER3 ACO2 ACOX1 ACOX2 ACP5 ACTA1 ACTB ACTG1 ACTG2 ACTN4 ADA2 ADAM22 ADAR ADAT3 ADCY5 ADD3 ADGRV1 ADK ADNP ADRA2B ADSL ADSSL1 AFF4 AFG3L2 AGK AGRN AGTPBP1 AIFM1 AIMP1 AIMP2 AIRE AKR1D1 AKT1 AKT2 ALAS2 ALDH18A1 ALDH5A1 ALG1 ALG11 ALG13 ALG14 ALG2 ALG9 ALMS1 ALPL ALS2 ALX4 AMACR AMMECR1 AMN AMT ANKH ANO3 ANO5 ANTXR2 ANXA11 AP1S1 AP1S2 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APOE APP APTX AQP2 AR ARFGEF2 ARHGDIA ARHGEF10 ARHGEF9 ARL6 ARMC9 ARV1 ARX ASAH1 ASCC1 ASCL1 ASH1L ASL ASNS ASPM ASS1 ASXL1 ASXL2 ATAD1 ATAD3A ATG5 ATL1 ATP11C ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP6 ATP6AP1 ATP6AP2 ATP6V1A ATP6V1B2 ATP7A ATP8A2 ATP8B1 ATPAF2 ATRX ATXN1 ATXN10 ATXN3 AUH AVPR2 B2M B4GALNT1 B4GAT1 BAG3 BAZ1B BBS9 BCKDHA BCKDHB BCL10 BCL11A BCL11B BCS1L BEAN1 BICD2 BIN1 BLNK BMPR1B BMPR2 BOLA3 BRAF BRAT1 BRF1 BRPF1 BSCL2 BSND C12ORF57 C12ORF65 C19ORF12 C1QBP C2CD3 C9ORF72 CA12 CA5A CA8 CACNA1A CACNA1B CACNA1G CACNA1S CACNB4 CAD CANT1 CAPN3 CARD11 CASP10 CAV1 CAV3 CAVIN1 CBLIF CC2D1A CC2D2A CCDC103 CCDC115 CCDC22 CCDC88C CCND2 CCNO CCT5 CD164 CD247 CD27 CD3D CD3E CD3G CD59 CD70 CD79B CD8A CD96 CDK5 CDKL5 CDON CDSN CENPF CENPJ CEP104 CEP135 CERS1 CFAP53 CFC1 CFD CFH CFHR5 CFI CFL2 CHAMP1 CHAT CHCHD10 CHD1 CHD3 CHKB CHMP1A CHMP2B CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRND CHRNE CHST6 CIB2 CIC CIT CLCF1 CLCN1 CLCN2 CLCN5 CLCN7 CLCNKA CLCNKB CLDN14 CLDN16 CLIC5 CLIP2 CLN6 CLN8 CLP1 CLPB CLPX CLTC CNKSR2 CNTN1 CNTNAP1 COA5 COASY COCH COG2 COG6 COL11A1 COL13A1 COL25A1 COL2A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COLQ COPB2 COQ2 COQ6 COQ7 COQ8A COQ8B CORO1A COX1 COX10 COX15 COX2 COX3 COX4I2 COX6A1 CPOX CPT1C CPT2 CRAT CRB2 CREB3L1 CREBBP CRELD1 CRLF1 CRPPA CRTAP CRYAB CSF1R CSPP1 CST3 CTC1 CTDP1 CTLA4 CTNNB1 CTNS CTSD CTSF CUBN CUX2 CWF19L1 CXCR4 CYB5A CYBA CYBB CYLD CYP11B1 CYP11B2 CYP2R1 CYP2U1 CYP7B1 CYTB DAB1 DAG1 DARS DARS2 DBT DCC DCDC2 DCHS1 DCPS DCTN1 DCX DDC DDHD1 DDHD2 DDOST DDX3X DEAF1 DEPDC5 DES DGKE DGUOK DHDDS DHFR DHX30 DIABLO DIAPH1 DLAT DLD DLL3 DMD DMXL2 DNA2 DNAAF3 DNAAF4 DNAAF5 DNAJB11 DNAJB2 DNAJB6 DNAJC21 DNAJC5 DNAJC6 DNAL1 DNM1L DNM2 DNMT1 DOCK2 DOCK7 DOCK8 DOK7 DOLK DONSON DPAGT1 DPH1 DPM1 DPM2 DPM3 DSP DSTYK DVL1 DYNC1H1 DYSF DZIP1L EARS2 EBF3 EBP EDC3 EED EEF1A2 EEF2 EGR2 EHHADH EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 ELANE ELN ELOVL4 ELOVL5 ELP1 ELP2 EMC1 EMD EMG1 ENO3 EP300 EPCAM EPG5 EPHB4 EPM2A EPO EPRS EPS8 ERBB4 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ESCO2 ETFA ETFB ETFDH EXOSC2 EXOSC3 EXOSC9 EXT1 EXT2 EYA1 F10 F13A1 F13B F2 F5 F7 FA2H FAM126A FAM20C FAN1 FARS2 FAT2 FAT4 FBXO11 FBXO38 FBXO7 FECH FERMT3 FGD4 FGF12 FGF14 FGF23 FGFR1 FGFR2 FGFR3 FH FHL1 FIG4 FKRP FKTN FLCN FLI1 FLNA FLNB FLNC FLT4 FLVCR1 FMN2 FMR1 FN1 FOXF1 FOXP3 FOXRED1 FRAS1 FREM2 FRG1 FRMD7 FRMPD4 FTL FUT8 FXN FZD4 GABRB1 GABRB2 GABRB3 GABRG2 GAD1 GALNS GALNT3 GALT GAN GANAB GARS GATA1 GATA5 GATAD2B GATM GBA GBA2 GBE1 GCH1 GCK GCSH GDAP1 GDF5 GDF6 GEMIN4 GFAP GFI1B GFM1 GFPT1 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB6 GJC2 GLA GLB1 GLDC GLE1 GLI2 GLI3 GLRA1 GLRB GLUL GM2A GMPPB GNAS GNB1 GNB4 GNE GNPTAB GNS GOSR2 GP6 GPAA1 GPC3 GPC4 GPD1 GPHN GPR161 GPRASP2 GPT2 GREB1L GRHL2 GRHPR GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM1 GRN GSC GSN GTF2I GTF2IRD1 GTPBP2 GTPBP3 GUCY1A1 GUCY2D GYG1 HARS HAX1 HBG2 HCFC1 HCN4 HDAC6 HDAC8 HELLS HEPACAM HERC1 HERC2 HESX1 HEXA HGSNAT HIBCH HIKESHI HINT1 HIVEP2 HJV HK1 HMGCL HNF1A HNF1B HNMT HNRNPDL HNRNPU HOXB1 HPCA HPGD HRAS HSD11B2 HSD17B10 HSD17B4 HSD3B7 HSPB1 HSPB3 HSPD1 HSPG2 HTRA2 HYDIN HYLS1 HYOU1 IARS IBA57 IDUA IER3IP1 IFIH1 IFT140 IGF1 IGF1R IGHM IGHMBP2 IGLL1 IKBKB IKZF1 IL21 ILDR1 IMPDH1 INF2 INPP5K INTU IRF2BPL ISCA1 ISCA2 ISCU ITGA2 ITGA6 ITGA7 ITGA8 ITGB4 ITK ITPA ITPR1 JAG1 JAM3 JPH1 KANSL1 KATNB1 KBTBD13 KCNA1 KCNA2 KCNB1 KCNC1 KCNC3 KCND3 KCNH1 KCNJ10 KCNJ11 KCNK3 KCNMA1 KCNQ2 KCNQ4 KCNQ5 KCNT1 KCNT2 KCTD17 KCTD7 KDM5B KIAA0556 KIAA1109 KIDINS220 KIF11 KIF1A KIF1B KIF1BP KIF1C KIF5A KIF5C KITLG KLC2 KLF1 KLF13 KLHL41 KLHL7 KMT2B KPTN KRAS KRIT1 KRT12 KRT14 KRT3 KRT5 KRT81 KRT83 KRT86 KY L2HGDH LAMA1 LAMA2 LAMA3 LAMB1 LAMB2 LAMB3 LAMC2 LARGE1 LARS2 LBR LCK LDB3 LDHA LGI1 LGI4 LHX4 LIMK1 LIMS2 LIPA LIPT1 LIPT2 LITAF LMAN2L LMBRD1 LMNA LMNB1 LMNB2 LMOD1 LRBA LRP4 LRP5 LRPPRC LRSAM1 LRTOMT LTC4S LYRM7 MAG MAGEL2 MAP3K20 MAPKBP1 MAPT MARS MARS2 MAST1 MATR3 MBOAT7 MBTPS2 MCM2 MCM3AP MCOLN1 MECP2 MECR MED13L MED17 MED25 MEFV MEGF10 MESP2 MET METTL23 MFF MFN2 MFSD2A MFSD8 MGME1 MICAL1 MID2 MIPEP MITF MLC1 MLH1 MLH3 MMAA MMAB MMACHC MMADHC MME MMP2 MN1 MNX1 MOCS1 MOCS2 MOGS MORC2 MPC1 MPDU1 MPDZ MPV17 MPZ MRE11 MRPL44 MRPS16 MRPS2 MRPS22 MRPS34 MRPS7 MSH2 MSH6 MTAP MTFMT MTO1 MTOR MTPAP MTR MTRR MUC1 MUSK MYH11 MYH14 MYH2 MYH7 MYH9 MYLK MYMK MYO1E MYO5A MYO5B MYO7A MYOT MYPN MYSM1 NAA10 NADK2 NAGA NAGLU NALCN NAXE NBEAL2 NCF1 NCF2 ND1 ND2 ND4 ND4L ND5 ND6 NDE1 NDRG1 NDUFA1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF6 NDUFB11 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEDD4L NEFH NEFL NEK8 NEUROG3 NEXMIF NF2 NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NGF NHLRC1 NIPA1 NKX2-1 NKX6-2 NLGN4X NLRC4 NLRP12 NLRP3 NME1 NOL3 NOP56 NOTCH3 NPC1 NPC2 NPHS1 NPHS2 NPRL2 NPRL3 NR1H4 NR3C2 NR4A2 NR5A1 NRAS NRIP1 NSDHL NTRK1 NUBPL NUP107 NUP133 NUP160 NUP37 NUP85 NUP93 NUS1 NXN OCRL OFD1 OGDH OPA1 OPHN1 ORAI1 OSMR OSTM1 PABPN1 PAFAH1B1 PAK1 PAK3 PANK2 PARK7 PARN PAX2 PAX3 PAX4 PBX1 PC PCDH12 PCDH15 PCDH19 PCK1 PCLO PCNA PDE10A PDE11A PDE4D PDE8B PDGFB PDGFRB PDHA1 PDHX PDK3 PDP1 PDYN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGAP2 PGAP3 PHACTR1 PHGDH PHIP PHKG2 PHOX2B PI4KA PIEZO2 PIGA PIGG PIGH PIGN PIGO PIGP PIGS PIGT PIGY PIK3CA PIK3R1 PIK3R5 PINK1 PIP5K1C PITX1 PITX2 PKD2 PKHD1 PLA2G6 PLAA PLCE1 PLCG2 PLD3 PLEC PLEKHG2 PLEKHG5 PLG PLK4 PLP1 PLXND1 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PMVK PNKD PNKP PNPLA2 PNPLA6 PNPLA8 POGLUT1 POLE POLG POLG2 POLR3A POLR3B POMC POMGNT1 POMK POMT1 POMT2 PPCS PPP1R3A PPT1 PQBP1 PRCC PRDM8 PRDX1 PREPL PRICKLE1 PRKAR1A PRKCD PRKCG PRKCSH PRKDC PRKN PRKRA PRMT7 PRNP PROC PROK2 PROKR2 PRPF31 PRPF8 PRPS1 PRRT2 PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSPH PTCH1 PTCH2 PTEN PTF1A PTH1R PTPRO PTPRQ PTRH2 PTS PUF60 PUM1 PURA PUS3 PYCR2 PYGM PYROXD1 QARS QDPR RAB27A RAD51 RAG1 RAG2 RAPSN RARS RARS2 RASGRP2 RBCK1 RBM8A RDX REEP1 REEP2 RELN REPS1 RERE RET RETREG1 REV3L RFC2 RFT1 RFWD3 RHOBTB2 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF170 RNU4ATAC ROBO1 ROBO3 ROGDI ROR1 ROR2 RORC RPGRIP1L RPL35A RPS19 RPS26 RPS28 RPS29 RPS6KA3 RPSA RRM2B RSPH3 RTEL1 RTN2 RUBCN RUSC2 RYR1 S1PR2 SACS SAMD12 SAMD9L SAMHD1 SAR1B SARS2 SASH1 SBF1 SBF2 SCARB2 SCN10A SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCO2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SEC61A1 SEC63 SELENON SEPSECS SERAC1 SERPINE1 SETX SF3B4 SFTPB SFTPC SFXN4 SGCA SGCB SGCE SGCG SGPL1 SH3BP2 SHH SIGMAR1 SIK1 SIL1 SIX1 SIX3 SLC10A2 SLC12A3 SLC12A5 SLC12A6 SLC16A2 SLC17A5 SLC17A8 SLC18A2 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC25A12 SLC25A19 SLC25A22 SLC25A24 SLC25A26 SLC25A38 SLC25A4 SLC25A46 SLC26A2 SLC2A1 SLC2A10 SLC30A10 SLC33A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35D1 SLC39A14 SLC39A4 SLC39A8 SLC3A1 SLC44A4 SLC46A1 SLC52A2 SLC52A3 SLC5A2 SLC5A7 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC7A7 SLC7A9 SLC9A1 SLC9A6 SLURP1 SLX4 SMAD9 SMARCD2 SMCHD1 SMN1 SMOC1 SMPD1 SMPX SNAP25 SNAP29 SNCA SNCAIP SNORD118 SNRPB SNRPN SNX14 SOST SOX18 SPART SPAST SPECC1L SPEG SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN2 SPTBN4 SQSTM1 SRD5A3 SSR4 STAMBP STAT1 STAT2 STAT3 STIL STIM1 STT3A STT3B STUB1 STX1B STXBP1 SUCLA2 SUCLG1 SUFU SUOX SURF1 SYNE1 SYNE2 SYNJ1 SYT1 SYT14 TACSTD2 TAF1 TAF13 TARDBP TARS2 TBC1D24 TBCD TBCE TBCK TBK1 TBL2 TBP TBX19 TBXT TCF3 TCTN2 TEAD1 TELO2 TENM4 TFAM TFG TGFB1 TGFBR2 TGM3 TGM6 TH THAP1 TIA1 TIMM8A TIMMDC1 TJP2 TK2 TLK2 TMEM106B TMEM126A TMEM173 TMEM231 TMEM240 TMEM43 TMEM67 TMEM70 TMPRSS3 TMTC3 TNFRSF11A TNFRSF11B TNFRSF13C TNFRSF4 TNNI3 TNNT1 TNPO3 TOE1 TOP3A TOR1A TOR1AIP1 TPM2 TPM3 TPP1 TRAC TRAK1 TRAPPC12 TRAPPC6B TRAPPC9 TREX1 TRIM32 TRIM36 TRIOBP TRIP11 TRIP4 TRIT1 TRMT1 TRMT10C TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPA1 TRPC3 TRPM6 TRPV4 TSC1 TSC2 TSEN15 TSEN2 TSEN54 TSFM TSHR TSPYL1 TTBK2 TTC25 TTI2 TTN TTR TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBB6 TUBG1 TUBGCP4 TUBGCP6 TUFM TWIST1 TWNK TXN2 TYMP TYR UBA5 UBQLN2 UBR1 UCHL1 UFSP2 UMOD UPB1 UQCC2 UQCC3 UROS USP18 UVSSA VAC14 VAMP1 VARS VARS2 VCP VDR VEGFC VIM VLDLR VMA21 VPS13A VPS13C VPS13D VPS33A VPS33B VPS45 VPS53 VRK1 VSX1 VWA3B VWF WAC WASHC5 WDR11 WDR26 WDR45B WDR62 WDR73 WDR81 WNK1 WNT10B WT1 WWOX XPC XPR1 XRCC1 YARS2 YME1L1 YWHAG ZAP70 ZBTB18 ZBTB24 ZC4H2 ZFYVE26 ZIC3 ZMPSTE24 ZNF335 ZNF687 ZSWIM6

Diseases (1589) :601419 617052 617162 306955 613287 612674 255310 616852 603278 615688 617008 614487 212350 615120 300751 613451 615034 611307 613319 228600 617839 175100 600151 228000 182600 602481 128235 535000 300972 300423 618012 603516 241600 615986 262000 615290 255200 178600 617333 600794 615035 615043 615751 108500 170400 613855 251450 606721 615343 616969 615122 615615 615607 618261 614226 614779 605376 613912 608930 601462 610353 600513 612001 608931 617600 617090 605635 618015 617854 301008 175780 614483 158810 254090 607426 612016 540000 121300 180849 606217 615636 616100 155255 103900 615030 616538 611105 157600 300067 604364 617836 613839 246900 614388 608093 608799 610805 617610 302960 607678 145900 615605 300148 133190 617300 610758 278780 617763 614678 602588 113650 227600 613679 227500 610532 614946 618089 615575 617166 193100 147950 101400 150800 611228 612691 606612 607155 611588 173600 300624 304790 617829 611277 600666 601472 300835 300367 617912 233910 118100 187900 612474 302800 129500 613480 615849 610829 175700 146510 272750 615351 615352 166350 614201 617810 617805 260000 617864 245570 616139 613970 617988 616198 615750 616199 616625 300882 252930 609115 218030 617093 615330 615846 616873 118450 610443 160120 615344 617643 617601 152950 614255 118210 615282 615731 617284 116860 601001 158000 615960 618138 615191 600512 181350 605588 613205 617875 614436 617271 615486 606070 308205 616968 617282 608808 614399 605074 615942 617087 609260 193510 607174 176450 614741 615219 118200 618184 604391 615395 617872 614350 605637 608358 182920 300855 301020 618234 618239 618222 616924 607684 607734 300912 162091 616576 615577 600363 611762 617772 256700 257220 607625 600995 617116 617118 617480 618270 618242 616730 165500 615883 607432 300558 616353 616371 616002 148820 617641 610475 245349 614871 614867 232800 618298 300868 618010 614080 618143 119800 180500 613095 617527 118220 610717 613662 610131 609308 613158 618189 256730 616640 610489 605361 612304 610628 244200 600138 600059 311070 128200 605751 249900 109400 610828 614196 617931 616158 261630 614508 616140 611523 615895 610250 618004 614922 610181 226750 615909 615190 616373 159550 612952 604403 604233 613721 614198 613863 243000 618126 115310 614739 606002 154400 610913 615578 608099 159900 617575 142945 611638 147250 157170 613291 605583 616794 616505 612126 613280 265100 220100 614707 233100 617143 158580 613951 615342 614561 182601 248900 612716 613477 600224 614892 616636 612783 616172 612164 616684 617432 605021 617193 616900 616736 605407 602629 609560 617964 612989 615934 239000 128100 609285 617873 616084 606071 600175 181405 617026 600334 615763 610031 614039 612438 617732 615412 108600 616687 615907 310440 607317 193400 613554 617616 225300 616211 612337 231550 616339 615889 610921 300100 616278 614857 201470 617762 182410 614300 607876 617030 616368 610246 618276 300816 260600 618006 235555 615109 176920 601162 616586 616227 616228 263210 205100 607225 606353 214950 118600 609313 608233 614066 613744 612936 614067 613647 208920 125800 313200 615244 608236 300607 617622 159950 616867 207900 615574 608716 215700 618011 617584 613708 301015 606693 618036 302500 616045 615228 300911 124480 300489 615268 164400 109150 304800 609195 615287 612954 248600 617101 617237 256000 618291 115150 614498 269700 615924 270685 602522 613559 614298 617713 615948 105550 613227 183086 614860 616795 616457 618129 606072 614679 236600 616053 615938 615872 608957 616342 270300 243605 608393 614673 616230 614809 610687 616579 254210 615911 616209 615048 602541 614961 614696 616313 616314 616321 616323 605809 614869 308990 613090 614035 204300 610003 615803 616271 618186 616500 618266 615643 601369 614576 615328 616720 616219 104200 203780 141200 301050 255600 131750 226600 131705 617800 614650 616733 615573 616039 616282 617917 219730 616229 616052 608810 613869 221820 612199 610127 615362 616127 132700 601606 605041 202010 203400 610600 613812 270800 615945 615281 617394 601390 607829 616459 607641 168605 609340 615033 615008 617070 614152 300376 617605 615156 606763 618061 614881 603511 162350 615528 614017 610708 615368 160150 604121 614116 616433 617604 614750 616901 615042 612937 616331 614228 158600 253601 254130 606768 617561 609306 605253 614457 615957 223900 617270 616875 310300 612932 613684 242840 254780 617951 615974 615515 208100 615681 611225 618065 613225 613235 188055 612319 614817 617046 617769 615546 260300 609307 300696 300718 300717 300695 613153 609524 614065 153100 609033 300623 601894 158900 606159 618005 133780 256850 231000 614409 263570 607706 214400 609060 615350 219080 615185 605820 252940 614018 301018 616281 608641 617691 614831 614706 602471 105120 601777 613977 163800 616911 613925 617011 137200 235700 605285 614744 224500 259100 137550 607765 608634 613376 612233 605280 616451 614231 608747 270450 616155 609646 614455 617404 618088 617613 616370 614200 226730 191830 606658 117360 613730 609273 616187 605259 607346 610582 121200 600101 614959 616398 611726 616784 617822 201300 614213 610357 609460 611302 617235 604187 609541 613673 615637 122100 131760 617114 607855 226700 609049 617021 617468 616827 617668 616516 169500 616540 614700 616304 611451 615838 616680 617760 260540 601104 616280 616430 617188 618124 300260 300055 300673 613668 616449 605589 617086 616486 610951 615084 300928 251110 617017 617018 252150 252160 606056 616688 609180 256810 180800 610498 617950 611719 617664 112250 614702 607341 613672 174000 614369 160500 255160 181430 254940 614131 600060 609200 617336 618116 609242 616491 616266 615419 617186 139090 614019 618244 618249 618235 618233 618240 618237 301021 618245 618226 618224 617201 617882 615415 610370 610978 617560 614937 614153 125310 256300 617049 168600 618177 618178 618179 618176 616892 617082 311200 210000 125250 105250 164300 607236 234200 606324 266150 608027 615919 616922 614613 609161 213600 615483 300905 610245 614870 266510 614877 614207 616531 617146 616917 614749 617599 616809 615108 615217 605909 610217 612953 610725 617770 612138 613723 611067 616171 312080 618279 213200 617954 616267 215470 251950 617232 615139 157640 258450 603041 203700 607459 607694 264090 613151 613157 253280 615249 616224 612437 174050 600116 612067 600072 137440 123400 617481 614895 611721 616038 607822 158350 616263 615583 616420 617258 615760 616326 615625 617916 613115 617784 616479 610329 612951 608984 607313 612075 616481 604805 615705 117000 255320 601068 615284 254900 615551 608567 167400 604377 601650 605373 168000 617056 617004 602771 613329 602433 265120 253700 614373 605726 218000 300523 617105 616657 607196 612289 609283 617184 615418 208050 614482 617013 616721 617606 211530 613135 617301 616291 617475 158901 253400 271150 616330 168601 605543 122860 137940 602099 616668 604360 607259 615386 617519 616437 617145 300934 614261 612703 160565 185070 615596 615597 618093 615768 610743 615530 614229 314250 300966 612069 615918 616044 220500 615338 617207 616439 607136 615709 108985 616954 617156 604484 613908 604454 615878 614970 607454 614302 614052 174810 613494 608423 614969 618098 617072 609270 618201 617669 617862 192315 254110 206500 617066 616866 616974 616410 612389 277470 225753 610204 604432 617092 611705 105210 613180 615771 616335 251270 609286 271245 616811 203100 617133 300857 615491 162000 616111 263700 617397 617054 617802 116300 224050 200150 616840 615851 607596 616948 603563 617977 604317 617967 256370 616413 617633 613561 614069 314580 270700 615095 616833 614096 238700 613163 601847 602347 301310 125853 610006 614559 2971 264470 617308 607944 604717 2241 617933 127400 615286 606703 604352 615873 103050 240300 300752 271980 608540 613661 300884 241500 300990 261100 605899 2028 304340 617050 104310 606889 608097 617020 452 99803 617796 97297 617190 617183 309400 211600 604273 847 250950 616098 124000 117210 613502 2098 614299 616202 218340 143860 615206 603909 613327 261000 608443 216360 616828 7 256840 610163 615617 612300 612692 1308 300672 95496 616781 609814 610984 617682 618205 616322 616324 217800 1545 255700 166600 248250 616042 612540 617395 228520 200610 614135 600204 603034 615401 612714 228305 600649 610682 604168 615075 219900 618141 193670 250790 233690 306400 600081 608643 614507 300958 617171 617804 124900 245348 277300 310200 615482 614874 606482 615859 243700 254300 208150 610768 609638 614924 617330 616460 616409 616393 1667 226980 603896 202700 1270 144 1493 617911 1466 610756 615272 214150 600630 614621 268300 231680 133700 133701 616682 188050 259775 177000 612840 609311 15 187600 187601 613152 253800 2308 300048 309350 304120 108720 112310 616193 265380 618241 2052 310700 300983 229300 617153 617113 603513 253000 211900 79239 615074 612718 85212 128230 607831 608340 200700 617913 203450 610542 104100 602540 133200 608804 301500 230500 253010 611890 253310 149400 614619 610015 616973 252500 373 614480 616204 611092 614254 610738 309541 163966 604004 615516 272800 250620 616881 616977 602390 246450 600496 616739 617391 300438 261515 800 224410 617248 608647 236680 233600 93473 266920 601495 613500 615592 615767 180105 617925 255125 613204 613011 616647 616212 616366 616056 611816 612780 613720 617771 618109 617296 145250 617055 236792 245660 608840 215140 615758 609452 612933 278000 616299 601098 616887 277380 157973 275210 248370 601813 220111 614037 615547 618273 85284 252650 616789 134610 601152 617228 251100 277400 277410 259600 618248 250940 236270 616325 603622 214450 251850 616034 609241 252920 233700 233710 601455 618243 618252 618228 252010 618225 618229 256030 617744 602535 612132 608654 118700 300495 616115 191900 120100 148200 177735 249400 308050 256800 1507 534 300555 203740 300486 259720 618158 120330 251280 609533 300088 261680 616921 312170 608782 912 614876 614872 614882 214110 614862 615716 256520 617991 613027 615398 615214 611369 263200 256600 614878 616763 217090 312920 570 118300 175800 118800 609734 616094 613155 93946 615559 615966 617157 301835 1187 139406 611722 610992 614023 609069 215045 613391 261640 617051 232600 607624 233650 615888 274000 611022 616975 612015 610333 210710 617654 616622 612528 105650 613309 606164 271400 617773 610419 270550 246700 613845 127500 604563 607208 617938 682 170500 168300 133020 264350 252011 613811 604286 118400 616341 248800 263800 616645 269920 618049 607483 612949 99742 609304 205950 600972 256050 606777 608885 241530 603585 300896 269250 201100 229050 614618 300352 222700 248300 1106 257200 607616 300066 609528 1393 209850 616354 275900 145410 615959 612379 147060 612073 245400 272300 612998 612999 618218 204870 201400 616941 616654 131300 617251 304700 618251 618050 1194 601072 617255 615593 611880 605355 609284 615387 613192 610448 609823 200600 184260 618302 615040 602014 606835 610505 275200 168593 615541 608807 610678 2315 243800 142669 613161 615824 614640 615917 277440 617303 208085 615285 148300 616708 251300 610185 278720 617302 617665 617006 617865 79107 64 100006 904 53693 550 100008 192 85278 2388
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.