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:
Abnormal biliary tract morphology (HP:0012440)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Cholangitis (HP:0030151)

..Starting node
..Sclerosing cholangitis (HP:0030991)

Term ID:

30991

Name:

Sclerosing cholangitis

Synonym:

Fibrous cholangitis

Definition:

Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.

Comments:

Reference:

HP:0030991

Genes and Diseases:

Child Nodes:

Sister Nodes:

Granulomatous cholangitis (HP:0030988)

Lymphoid cholangitis (HP:0030989)

Pleomorphic cholangitis (HP:0030990)

Suppurative cholangitis (HP:0030987)

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:0030991	HP:0030991	Sclerosing cholangitis	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040284 - Very rare	111
HP:0030991	HP:0030991	Sclerosing cholangitis	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0030991	HP:0030991	Sclerosing cholangitis	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0030991	HP:0030991	Sclerosing cholangitis	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0030991	HP:0030991	Sclerosing cholangitis	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0030991	HP:0030991	Sclerosing cholangitis	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0030991	HP:0030991	Sclerosing cholangitis	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0030991	HP:0030991	Sclerosing cholangitis	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0030991	HP:0030991	Sclerosing cholangitis	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34

Genes (9) :ABCB4 CD40LG CIITA DCDC2 KIF12 REL RFX5 RFXANK RFXAP

Diseases (6) :ORPHA:69663 OMIM:308230 ORPHA:572 OMIM:617394 OMIM:619662 OMIM:619652

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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