Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the abdominal organs (HP:0002012)

Parent Node:
Abnormality of the liver (HP:0001392)

..Starting node
..Abnormality of the biliary system (HP:0004297)

Term ID:

4297

Name:

Abnormality of the biliary system

Synonym:

Definition:

An abnormality of the biliary system.

Comments:

Reference:

HP:0004297

Genes and Diseases:

Child Nodes:

........

Biliary tract abnormality (HP:0001080)

................... HP:0012439 Abnormal biliary tract physiology
................... HP:0012440 Abnormal biliary tract morphology

........

Cholestasis (HP:0001396)

................... HP:0000952 Jaundice
................... HP:0001406 Intrahepatic cholestasis
................... HP:0002611 Cholestatic liver disease
................... HP:0011985 Acholic stools
................... HP:0012334 Extrahepatic cholestasis

........

Abnormality of the gallbladder (HP:0005264)

................... HP:0012437 Abnormal gallbladder morphology
................... HP:0012438 Abnormal gallbladder physiology

........

Malformation of the hepatic ductal plate (HP:0006563)

........

Portal fibrosis (HP:0006580)

Sister Nodes:

Abnormal liver morphology (HP:0410042)

Abnormal liver physiology (HP:0031865)

Abnormal liver sonography (HP:0031140)

Neoplasm of the liver (HP:0002896)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004297	HP:0004297	Abnormality of the biliary system	0	CL E G H
HP:0004297	HP:0033196	Portal inflammation	1	CL E G H
HP:0004297	HP:0006580	Portal fibrosis	1	CL E G H
HP:0004297	HP:0001396	Cholestasis	1	CL E G H
HP:0004297	HP:0005264	Abnormality of the gallbladder	1	CL E G H
HP:0004297	HP:0006563	Malformation of the hepatic ductal plate	1	CL E G H
HP:0004297	HP:0001080	Biliary tract abnormality	1	CL E G H
HP:0004297	HP:0001406	Intrahepatic cholestasis	2	CL E G H
HP:0004297	HP:0002611	Cholestatic liver disease	2	CL E G H
HP:0004297	HP:0011985	Acholic stools	2	CL E G H
HP:0004297	HP:0012437	Abnormal gallbladder morphology	2	CL E G H
HP:0004297	HP:0000952	Jaundice	2	CL E G H
HP:0004297	HP:0012438	Abnormal gallbladder physiology	2	CL E G H
HP:0004297	HP:0012334	Extrahepatic cholestasis	2	CL E G H
HP:0004297	HP:0012440	Abnormal biliary tract morphology	2	CL E G H
HP:0004297	HP:0012439	Abnormal biliary tract physiology	2	CL E G H
HP:0004297	HP:0100575	Neoplasm of the gallbladder	3	CL E G H
HP:0004297	HP:0030986	Biliary epithelial hyperplasia	3	CL E G H
HP:0004297	HP:0005609	Gallbladder dysfunction	3	CL E G H
HP:0004297	HP:0011466	Aplasia/Hypoplasia of the gallbladder	3	CL E G H
HP:0004297	HP:0001046	Intermittent jaundice	3	CL E G H
HP:0004297	HP:0005608	Bilobate gallbladder	3	CL E G H
HP:0004297	HP:0025154	Portosystemic collateral veins	3	CL E G H
HP:0004297	HP:0001408	Bile duct proliferation	3	CL E G H
HP:0004297	HP:0030154	Gallbladder perforation	3	CL E G H
HP:0004297	HP:0002613	Biliary cirrhosis	3	CL E G H
HP:0004297	HP:0032023	Eosinophilic gallbladder infiltration	3	CL E G H
HP:0004297	HP:0001082	Cholecystitis	3	CL E G H
HP:0004297	HP:0100889	Abnormality of the ductus choledochus	3	CL E G H
HP:0004297	HP:0100574	Biliary tract neoplasm	3	CL E G H
HP:0004297	HP:0030151	Cholangitis	3	CL E G H
HP:0004297	HP:0012396	Biliary dyskinesia	3	CL E G H
HP:0004297	HP:0030170	Cystic artery pseudoaneurysm	3	CL E G H
HP:0004297	HP:0100762	Hemobilia	3	CL E G H
HP:0004297	HP:0006560	Biliary hyperplasia	3	CL E G H
HP:0004297	HP:0006575	Intrahepatic cholestasis with episodic jaundice	3	CL E G H
HP:0004297	HP:0006566	Neonatal cholestatic liver disease	3	CL E G H
HP:0004297	HP:0005230	Biliary tract obstruction	3	CL E G H
HP:0004297	HP:0006579	Prolonged neonatal jaundice	3	CL E G H
HP:0004297	HP:0011040	Abnormality of the intrahepatic bile duct	3	CL E G H
HP:0004297	HP:0001081	Cholelithiasis	3	CL E G H
HP:0004297	HP:0005912	Biliary atresia	3	CL E G H
HP:0004297	HP:0025519	Multiple biliary hamartomas	4	CL E G H
HP:0004297	HP:0100890	Cyst of the ductus choledochus	4	CL E G H
HP:0004297	HP:0030989	Lymphoid cholangitis	4	CL E G H
HP:0004297	HP:0033149	Intrahepatic bile duct dilatation	4	CL E G H
HP:0004297	HP:0012441	Sphincter of Oddi dyskinesia	4	CL E G H
HP:0004297	HP:0030153	Cholangiocarcinoma	4	CL E G H
HP:0004297	HP:0030988	Granulomatous cholangitis	4	CL E G H
HP:0004297	HP:0005233	Hypoplasia of the gallbladder	4	CL E G H
HP:0004297	HP:0005209	Intrahepatic bile duct cysts	4	CL E G H
HP:0004297	HP:0030987	Suppurative cholangitis	4	CL E G H
HP:0004297	HP:0011981	Pigment gallstones	4	CL E G H
HP:0004297	HP:0006571	Reduced number of intrahepatic bile ducts	4	CL E G H
HP:0004297	HP:0012442	Gallbladder dyskinesia	4	CL E G H
HP:0004297	HP:0005242	Extrahepatic biliary duct atresia	4	CL E G H
HP:0004297	HP:0011984	Atretic gallbladder	4	CL E G H
HP:0004297	HP:0025344	Interlobular bile duct destruction	4	CL E G H
HP:0004297	HP:0030991	Sclerosing cholangitis	4	CL E G H
HP:0004297	HP:0011980	Cholesterol gallstones	4	CL E G H
HP:0004297	HP:0001401	Intrahepatic biliary dysgenesis	4	CL E G H
HP:0004297	HP:0100575	Neoplasm of the gallbladder	4	CL E G H
HP:0004297	HP:0011467	Absent gallbladder	4	CL E G H
HP:0004297	HP:0030990	Pleomorphic cholangitis	4	CL E G H
HP:0004297	HP:0005248	Intrahepatic biliary atresia	4	CL E G H
HP:0004297	HP:0011982	Black pigment gallstones	5	CL E G H
HP:0004297	HP:0011983	Brown pigment gallstones	5	CL E G H

Genes (283) :ABCB11 ABCB4 ABCC2 ABCD3 ACADL ACVRL1 ADAMTS13 ADAR ADK AIRE AKR1D1 ALAS2 ALDOA ALDOB ALG8 AMACR ANK1 ANKS6 AP1S1 APOA1 ARSA ARVCF ATP6AP1 ATP7A ATP7B ATP8B1 B2M B3GLCT BAZ1B BBS1 BCS1L BLVRA BPGM BRCA1 BRCA2 C15ORF41 CASK CASR CC2D2A CCDC115 CCDC47 CDAN1 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEP290 CEP83 CFTR CIITA CLCA4 CLDN1 CLIP2 COG6 COG7 COMT COX4I2 CPA1 CPLX1 CPOX CTBP1 CTRC CYP27A1 CYP7A1 CYP7B1 DCDC2 DCTN4 DGUOK DHCR7 DHFR DMPK DPAGT1 DUOX2 DUOXA2 DZIP1L EARS2 EIF2AK3 ELN ENG EPB41 ERCC4 ESCO2 ETFA ETFB ETFDH F5 FECH FGA FGFRL1 FH FLI1 FOXF1 FUCA1 G6PD GALE GALK1 GALT GATA6 GBA GCGR GDF2 GFM1 GLIS3 GLRX5 GNE GP1BB GPI GPIHBP1 GPR35 GTF2I GTF2IRD1 HADHA HADHB HBB HBG2 HESX1 HFE HIRA HK1 HNF1B HNF4A HOXD13 HSD17B4 HSD3B7 IER3IP1 IFIH1 IFT122 IFT140 IFT172 IL12A IL12RB1 IL21R IL36RN INPP5E INSR IRF5 IYD JAG1 JAK2 JMJD1C KCNN4 KRAS KRT18 LBR LETM1 LHX3 LHX4 LIMK1 LIPA LMF1 LMNA LONP1 LPL LYST LYZ MEN1 MKS1 MMEL1 MPV17 MST1 NBAS NEK8 NELFA NEUROG3 NKX2-5 NOTCH2 NPC1 NPC2 NPHP3 NR1H4 NSD2 OCLN PALB2 PALLD PAX8 PCSK1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PHKG2 PIEZO1 PKHD1 PKLR PLG PNPLA2 POLG POMC POU1F1 POU2AF1 PRF1 PRKAR1A PROP1 PRSS1 PRSS2 PSAP PTPN3 RAB27A RFC2 RFX5 RFX6 RFXANK RFXAP RHAG RNASEH2A RNASEH2B RNASEH2C RNF43 RNU4ATAC RPGRIP1L RREB1 SAA1 SAMHD1 SC5D SCARB2 SEC23B SEC24C SERPINA1 SHPK SLC25A13 SLC26A4 SLC2A1 SLC30A10 SLC4A1 SLC5A5 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SON SP110 SPECC1L SPIB SPINK1 SPTB STK11 STX1A TBL2 TBX1 TBX19 TCF4 TFAM TG TGFB1 THRA THRB TJP2 TMEM216 TMEM67 TMPRSS6 TNFSF15 TNPO3 TP53 TPI1 TPO TRAF3IP1 TREX1 TRHR TRMU TSHB TSHR TTC37 TTC7A UBR1 UFD1 UGT1A1 UROS VIPAS39 VPS33B WDR35 WHCR

Diseases (243) :602347 234 237500 614300 79303 608104 79095 615382 609313 105200 261540 209900 53693 603358 124000 614156 615862 614576 194190 909 209902 79302 616217 818 731 614924 268300 606812 349 609060 610199 746 232 465508 137920 887 261515 79301 218330 266920 615630 508 246200 118450 280 615415 267010 208540 71528 97231 71526 609734 85445 2869 175200 616629 243800 79234 613610 605479 601847 600803 614972 616278 274150 235555 611881 229600 214950 182900 171851 198 905 147480 211600 222800 1333 615631 676 616828 652 276152 59303 607626 608779 612714 121300 613812 617394 251880 270400 613839 608093 95716 1667 611804 231680 131 370348 230350 79239 438274 616860 613470 444490 171 5 231214 231226 603903 613977 226307 235700 93111 607765 614231 186 616689 215600 779 613471 75234 238600 214500 616483 83620 95712 610205 3032 617049 251290 95720 912 614887 614876 614866 614872 214110 232800 194380 266200 613038 603553 615 70567 79477 615710 268150 185000 46059 607330 224100 60 440713 605814 608885 309854 612653 3111 237450 79124 616649 617156 97927 615878 209981 615512 613070 90674 90673 222470 218800 606785 237900 613404 208085 99900 774 51 240300 300752 309271 309263 309256 250100 567 300972 565 243300 904 300908 612284 618268 224120 611134 586 219700 209920 213700 160900 615272 79278 177000 230200 2255 600001 77259 3166 231222 615207 614204 363618 249000 256810 257220 607625 170100 214100 614886 617370 613027 766 98908 203700 157798 210710 611561 257200 188400 199296 603194 610688 607361 225750 99832 436252 79235 263700 1454 210122 1458 500150 145410

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

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