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:
Abnormality of the anus (HP:0004378)

Parent Node:
Ectopic anus (HP:0004397)

..Starting node
..Posteriorly placed anus (HP:0012890)

Term ID:

12890

Name:

Posteriorly placed anus

Synonym:

Definition:

Posterior malposition of the anus.

Comments:

Reference:

HP:0012890

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteriorly placed anus (HP:0001545)

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:0012890	HP:0012890	Posteriorly placed anus	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39

Genes (1) :ZIC3

Diseases (1) :OMIM:306955

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