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)

Grandparent Node:
Gastrointestinal atresia (HP:0002589)

Parent Node:
Intestinal atresia (HP:0011100)

..Starting node
..Multiple small bowel atresias (HP:0004797)

Term ID:

4797

Name:

Multiple small bowel atresias

Synonym:

Definition:

The presence of multiple areas of atresia affecting the small intestine.

Comments:

Reference:

HP:0004797

Genes and Diseases:

Child Nodes:

Sister Nodes:

Colonic atresia (HP:0010448)

Duodenal atresia (HP:0002247)

Ileal atresia (HP:0011102)

Jejunal atresia (HP:0005235)

Rectal atresia (HP:0025023)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004797	HP:0004797	Multiple small bowel atresias	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.