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 ganglion morphology (HP:0004362)

Parent Node:
Aganglionic megacolon (HP:0002251)

..Starting node
..Total colonic aganglionosis (HP:0011286)

Term ID:

11286

Name:

Total colonic aganglionosis

Synonym:

Definition:

A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.

Comments:

Reference:

HP:0011286

Genes and Diseases:

Child Nodes:

Sister Nodes:

Long-segment aganglionic megacolon (HP:0011285)

Short-segment aganglionic megacolon (HP:0011284)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011286	HP:0011286	Total colonic aganglionosis	0	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.