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
..Congenital shortened small intestine (HP:0030889)

Term ID:

30889

Name:

Congenital shortened small intestine

Synonym:

Short bowel

Definition:

Substantially shortened length of the small intestine as a result of a developmental defect.

Comments:

Reference:

HP:0030889

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal duodenum morphology (HP:0002246)

Abnormal ileum morphology (HP:0001549)

Abnormal jejunum morphology (HP:0005265)

Abnormal small intestinal mucosa morphology (HP:0025129)

Abnormality of small intestinal villus morphology (HP:0011472)

Agenesis of the small intestine (HP:0012739)

Celiac disease (HP:0002608)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030889	HP:0030889	Congenital shortened small intestine	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.	7
HP:0030889	HP:0030889	Congenital shortened small intestine	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	HP:0040283 - Occasional	493
HP:0030889	HP:0030889	Congenital shortened small intestine	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61

Genes (3) :CLMP FLNA FOXF1

Diseases (3) :OMIM:615237 OMIM:300048 OMIM:265380

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