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 enteric nervous system morphology (HP:0025028)

Parent Node:
Abnormality of enteric ganglion morphology (HP:0004362)

..Starting node
..Aganglionosis of the small intestine (HP:0011464)

Term ID:

11464

Name:

Aganglionosis of the small intestine

Synonym:

Definition:

A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.

Comments:

Reference:

HP:0011464

Genes and Diseases:

Child Nodes:

........

Duodenal aganglionosis (HP:0011465)

Sister Nodes:

Aganglionic megacolon (HP:0002251)

Ganglioneuromatosis (HP:0025151)

Hypoganglionosis (HP:0025150)

Total intestinal aganglionosis (HP:0005241)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011464	HP:0011464	Aganglionosis of the small intestine	0	CL E G H
HP:0011464	HP:0011465	Duodenal aganglionosis	1	CL E G H

Genes (0) :

Diseases (0) :

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