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:
Abnormal biliary tract morphology (HP:0012440)

Parent Node:
Abnormality of the ductus choledochus (HP:0100889)

..Starting node
..Cyst of the ductus choledochus (HP:0100890)

Term ID:

100890

Name:

Cyst of the ductus choledochus

Synonym:

Choledochal cyst

Definition:

Comments:

Reference:

HP:0100890

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0100890	HP:0100890	Cyst of the ductus choledochus	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100890	HP:0100890	Cyst of the ductus choledochus	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (2) :SUPT16H USP9X

Diseases (2) :OMIM:619480 ORPHA:480880

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