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 jejunum morphology (HP:0005265)

Parent Node:
Intestinal atresia (HP:0011100)

..Starting node
..Jejunal atresia (HP:0005235)

Term ID:

5235

Name:

Jejunal atresia

Synonym:

Definition:

A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.

Comments:

Reference:

HP:0005235

Genes and Diseases:

Child Nodes:

Sister Nodes:

Colonic atresia (HP:0010448)

Duodenal atresia (HP:0002247)

Ileal atresia (HP:0011102)

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:0005235	HP:0005235	Jejunal atresia	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0005235	HP:0005235	Jejunal atresia	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0005235	HP:0005235	Jejunal atresia	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040282 - Frequent	1
HP:0005235	HP:0005235	Jejunal atresia	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0005235	HP:0005235	Jejunal atresia	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040284 - Very rare	35
HP:0005235	HP:0005235	Jejunal atresia	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0005235	HP:0005235	Jejunal atresia	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0005235	HP:0005235	Jejunal atresia	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0005235	HP:0005235	Jejunal atresia	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0005235	HP:0005235	Jejunal atresia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (9) :AP1S1 CENPF MIR17HG MYCN PPP1R12A RFX6 SLC25A12 TTC7A ZNF699

Diseases (10) :OMIM:609313 OMIM:243605 ORPHA:391646 OMIM:164280 ORPHA:391641 OMIM:618820 OMIM:615710 OMIM:612949 OMIM:243150 OMIM:619488

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

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