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:
Abnormal ileum morphology (HP:0001549)

Parent Node:
Intestinal atresia (HP:0011100)

..Starting node
..Ileal atresia (HP:0011102)

Term ID:

11102

Name:

Ileal atresia

Synonym:

Definition:

An abnormal closure, or atresia of the tubular structure of the ileum.

Comments:

Reference:

HP:0011102

Genes and Diseases:

Child Nodes:

........

Distal ileal atresia (HP:0200116)

Sister Nodes:

Colonic atresia (HP:0010448)

Duodenal atresia (HP:0002247)

Jejunal atresia (HP:0005235)

Multiple small bowel atresias (HP:0004797)

Rectal atresia (HP:0025023)

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:0011102	HP:0011102	Ileal atresia	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0011102	HP:0011102	Ileal atresia	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0011102	HP:0011102	Ileal atresia	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0011102	HP:0011102	Ileal atresia	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0011102	HP:0011102	Ileal atresia	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0011102	HP:0200116	Distal ileal atresia	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164

Genes (5) :DIS3L2 GMPPB MYH11 PPP1R12A TTC7A

Diseases (5) :OMIM:267000 OMIM:615351 OMIM:619351 OMIM:618820 OMIM:243150

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