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)

Parent Node:
Urethral atresia (HP:0000068)

..Starting node
..Urethral atresia, male (HP:0000052)

Term ID:

Name:

Urethral atresia, male

Synonym:

Definition:

Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.

Comments:

Reference:

HP:0000052

Genes and Diseases:

Child Nodes:

Sister Nodes:

Urethral atresia, female (HP:0000067)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000052	HP:0000052	Urethral atresia, male	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.