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:
Abnormal large intestine morphology (HP:0002250)

Grandparent Node:
Intestinal hypoplasia (HP:0005245)

Parent Node:
Aplasia/Hypoplasia of the colon (HP:0100811)

..Starting node
..Hypoplastic colon (HP:0005210)

Term ID:

5210

Name:

Hypoplastic colon

Synonym:

Hypoplasia of the colon; Underdeveloped colon

Definition:

Underdevelopment of the colon.

Comments:

Reference:

HP:0005210

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplastic colon (HP:0500027)

Microcolon (HP:0004388)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005210	HP:0005210	Hypoplastic colon	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.