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
..Short-segment aganglionic megacolon (HP:0011284)

Term ID:

11284

Name:

Short-segment aganglionic megacolon

Synonym:

Definition:

A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.

Comments:

Reference:

HP:0011284

Genes and Diseases:

Child Nodes:

Sister Nodes:

Long-segment aganglionic megacolon (HP:0011285)

Total colonic aganglionosis (HP:0011286)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011284	HP:0011284	Short-segment aganglionic megacolon	0	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2	77
HP:0011284	HP:0011284	Short-segment aganglionic megacolon	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	61

Genes (2) :ERBB2 SOX10

Diseases (2) :OMIM:619465 OMIM:609136

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