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 liver (HP:0001392)

Parent Node:
Abnormality of the biliary system (HP:0004297)

..Starting node
..Malformation of the hepatic ductal plate (HP:0006563)

Term ID:

6563

Name:

Malformation of the hepatic ductal plate

Synonym:

Definition:

Comments:

Reference:

HP:0006563

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the gallbladder (HP:0005264)

Biliary tract abnormality (HP:0001080)

Cholestasis (HP:0001396)

Portal fibrosis (HP:0006580)

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:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0006563	HP:0006563	Malformation of the hepatic ductal plate	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849

Genes (8) :B9D2 DCDC2 IFT122 MKS1 NEK8 NPHP3 TMEM67 ZFYVE19

Diseases (8) :OMIM:614175 ORPHA:84081 OMIM:218330 OMIM:249000 OMIM:615415 OMIM:208540 OMIM:607361 OMIM:619849

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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