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:
Abnormal external genitalia (HP:0000811)

Parent Node:
Ambiguous genitalia (HP:0000062)

..Starting node
..Gonadal tissue inappropriate for external genitalia or chromosomal sex (HP:0003248)

Term ID:

3248

Name:

Gonadal tissue inappropriate for external genitalia or chromosomal sex

Synonym:

Definition:

Comments:

Reference:

HP:0003248

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ambiguous genitalia, female (HP:0000061)

Ambiguous genitalia, male (HP:0000033)

Ovotestis (HP:0012861)

True hermaphroditism (HP:0010459)

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:0003248	HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177

Genes (1) :WT1

Diseases (1) :OMIM:194080

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