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 genital system (HP:0000078)

Parent Node:
Abnormal reproductive system morphology (HP:0012243)

..Starting node
..Anteriorly displaced genitalia (HP:0003252)

Term ID:

3252

Name:

Anteriorly displaced genitalia

Synonym:

Definition:

Comments:

Reference:

HP:0003252

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal external genitalia (HP:0000811)

Abnormal germ cell morphology (HP:0012862)

Abnormal internal genitalia (HP:0000812)

Abnormal meiosis (HP:0031515)

Abnormal sex determination (HP:0012244)

Abnormality of the female genitalia (HP:0010460)

Abnormality of the male genitalia (HP:0010461)

Genital tract atresia (HP:0001827)

Genital ulcers (HP:0003249)

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:0003252	HP:0003252	Anteriorly displaced genitalia	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	13

Genes (1) :WNT7A

Diseases (1) :OMIM:276820

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