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:
Functional abnormality of the gastrointestinal tract (HP:0012719)

Parent Node:
Abnormal gastrointestinal motility (HP:0030895)

..Starting node
..Abnormal gastrointestinal transit time (HP:0030896)

Term ID:

30896

Name:

Abnormal gastrointestinal transit time

Synonym:

Abnormal GI transit time

Definition:

A deviation from the normal amount of time required for food to pass through the intestines.

Comments:

Reference:

HP:0030896

Genes and Diseases:

Child Nodes:

........

Decreased intestinal transit time (HP:0030897)

Sister Nodes:

Gastrointestinal dysmotility (HP:0002579)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030896	HP:0030896	Abnormal gastrointestinal transit time	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0030896	HP:0030896	Abnormal gastrointestinal transit time	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0030896	HP:0030896	Abnormal gastrointestinal transit time	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0030896	HP:0030897	Decreased intestinal transit time	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0030896	HP:0030897	Decreased intestinal transit time	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.	7
HP:0030896	HP:0410204	Increased intestinal transit time	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE

Genes (3) :ANO1 CLMP UNC45A

Diseases (3) :OMIM:620045 OMIM:615237 OMIM:619377

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