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 ileum morphology (HP:0001549)

Grandparent Node:
Intestinal atresia (HP:0011100)

Parent Node:
Ileal atresia (HP:0011102)

..Starting node
..Distal ileal atresia (HP:0200116)

Term ID:

200116

Name:

Distal ileal atresia

Synonym:

Definition:

Comments:

Reference:

HP:0200116

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0200116	HP:0200116	Distal ileal atresia	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164

Genes (1) :DIS3L2

Diseases (1) :OMIM:267000

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