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 small intestine (HP:0002244)

Parent Node:
Abnormal duodenum morphology (HP:0002246)

..Starting node
..Megaduodenum (HP:0030996)

Term ID:

30996

Name:

Megaduodenum

Synonym:

Definition:

Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.

Comments:

Reference:

HP:0030996

Genes and Diseases:

Child Nodes:

Sister Nodes:

Duodenal atresia (HP:0002247)

Duodenal atrophy (HP:0012414)

Duodenal stenosis (HP:0100867)

Duodenal ulcer (HP:0002588)

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:0030996	HP:0030996	Megaduodenum	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0030996	HP:0030996	Megaduodenum	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0030996	HP:0030996	Megaduodenum	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25

Genes (3) :ACTG2 MYH11 RAD21

Diseases (3) :OMIM:155310 OMIM:619350 OMIM:611376

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