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 intestine morphology (HP:0002242)

Parent Node:
Abnormality of the small intestine (HP:0002244)

..Starting node
..Abnormal small intestinal mucosa morphology (HP:0025129)

Term ID:

25129

Name:

Abnormal small intestinal mucosa morphology

Synonym:

Definition:

A structural anomaly of the mucous lining of the small intestine.

Comments:

Reference:

HP:0025129

Genes and Diseases:

Child Nodes:

........

Decreased small intestinal mucosa lactase activity (HP:0025130)

Sister Nodes:

Abnormal duodenum morphology (HP:0002246)

Abnormal ileum morphology (HP:0001549)

Abnormal jejunum morphology (HP:0005265)

Abnormality of small intestinal villus morphology (HP:0011472)

Agenesis of the small intestine (HP:0012739)

Celiac disease (HP:0002608)

Congenital shortened small intestine (HP:0030889)

Fat malabsorption (HP:0002630)

Hypoplasia of the small intestine (HP:0004790)

Malrotation of small bowel (HP:0004794)

Protein-losing enteropathy (HP:0002243)

Small bowel diverticula (HP:0002256)

Small intestinal bleeding (HP:0012849)

Small intestinal dysmotility (HP:0012850)

Small intestinal stenosis (HP:0012848)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025129	HP:0025129	Abnormal small intestinal mucosa morphology	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent		170
HP:0025129	HP:0025129	Abnormal small intestinal mucosa morphology	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital			72
HP:0025129	HP:0025129	Abnormal small intestinal mucosa morphology	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE			5
HP:0025129	HP:0025129	Abnormal small intestinal mucosa morphology	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0025129	HP:0025130	Decreased small intestinal mucosa lactase level	1	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.	HP:0003577 - Congenital onset	72
HP:0025129	HP:0025130	Decreased small intestinal mucosa lactase level	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE			5

Genes (4) :EPCAM LCT MCM6 PERCC1

Diseases (3) :ORPHA:92050 OMIM:223000 OMIM:223100

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