Human Phenotype Ontology

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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 gallbladder (HP:0005264)

Parent Node:
Abnormal gallbladder physiology (HP:0012438)

..Starting node
..Cholecystitis (HP:0001082)

Term ID:

1082

Name:

Cholecystitis

Synonym:

Gallbladder inflammation

Definition:

The presence of inflammatory changes in the gallbladder.

Comments:

Reference:

HP:0001082

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gallbladder dysfunction (HP:0005609)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001082	HP:0001082	Cholecystitis	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0001082	HP:0001082	Cholecystitis	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0001082	HP:0001082	Cholecystitis	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0001082	HP:0001082	Cholecystitis	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional	111
HP:0001082	HP:0001082	Cholecystitis	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	178
HP:0001082	HP:0001082	Cholecystitis	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0001082	HP:0001082	Cholecystitis	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0001082	HP:0001082	Cholecystitis	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0001082	HP:0001082	Cholecystitis	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0001082	HP:0001082	Cholecystitis	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	253
HP:0001082	HP:0001082	Cholecystitis	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0001082	HP:0001082	Cholecystitis	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0001082	HP:0001082	Cholecystitis	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	186
HP:0001082	HP:0001082	Cholecystitis	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0001082	HP:0001082	Cholecystitis	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	8
HP:0001082	HP:0001082	Cholecystitis	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0001082	HP:0001082	Cholecystitis	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0001082	HP:0001082	Cholecystitis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0001082	HP:0001082	Cholecystitis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0001082	HP:0001082	Cholecystitis	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0001082	HP:0001082	Cholecystitis	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional	950
HP:0001082	HP:0001082	Cholecystitis	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0001082	HP:0001082	Cholecystitis	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0001082	HP:0001082	Cholecystitis	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040284 - Very rare	65
HP:0001082	HP:0001082	Cholecystitis	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0001082	HP:0001082	Cholecystitis	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0001082	HP:0001082	Cholecystitis	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	81
HP:0001082	HP:0001082	Cholecystitis	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	504
HP:0001082	HP:0001082	Cholecystitis	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001082	HP:0001082	Cholecystitis	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.	28

Genes (23) :ABCB11 ABCB4 ACVRL1 ALDOA ARSA ATP8B1 CALR ENG F5 GDF2 GPI HK1 IGHG2 IGKC JAK2 MECP2 NR1H4 PKLR PNPLA2 PSAP SMAD4 TFE3 TPI1

Diseases (18) :ORPHA:69665 OMIM:600803 ORPHA:69663 ORPHA:774 OMIM:611881 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:131 OMIM:613470 OMIM:235700 ORPHA:183675 ORPHA:778 OMIM:266200 ORPHA:98908 OMIM:301066 OMIM:615512

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

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