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
..Ganglioneuromatosis (HP:0025151)

Term ID:

25151

Name:

Ganglioneuromatosis

Synonym:

Definition:

Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.

Comments:

Reference:

HP:0025151

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aganglionic megacolon (HP:0002251)

Aganglionosis of the small intestine (HP:0011464)

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:0025151	HP:0025151	Ganglioneuromatosis	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.