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 urethra (HP:0000795)

Grandparent Node:
Urogenital fistula (HP:0100589)

Parent Node:
Rectal fistula (HP:0100590)

Parent Node:
Urethral fistula (HP:0010480)

..Starting node
..Rectourethral fistula (HP:0025407)

Term ID:

25407

Name:

Rectourethral fistula

Synonym:

Urethrorectal fistula

Definition:

An abnormal connection (fistula) between the rectum and the urethra.

Comments:

Reference:

HP:0025407

Genes and Diseases:

Child Nodes:

Sister Nodes:

Urethrovaginal fistula (HP:0008716)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025407	HP:0025407	Rectourethral fistula	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	57

Genes (1) :MID1

Diseases (1) :OMIM:300000

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