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:
Abdominal wall defect (HP:0010866)

Grandparent Node:
Abnormality of the genitourinary system (HP:0000119)

Parent Node:
Cloacal abnormality (HP:0012620)

..Starting node
..Persistent cloaca (HP:0012621)

Term ID:

12621

Name:

Persistent cloaca

Synonym:

Cloacogenic bladder

Definition:

Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.

Comments:

Reference:

HP:0012621

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cloacal exstrophy (HP:0010475)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012621	HP:0012621	Persistent cloaca	0	CL E G H

Genes (0) :

Diseases (0) :

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