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:
Abnormal genital pigmentation (HP:0012293)

..Starting node
..Freckled genitalia (HP:0030257)

Term ID:

30257

Name:

Freckled genitalia

Synonym:

Freckled genitalia; Genitalia, ephelides

Definition:

One or more brown punctate macules on the skin of the genitalia.

Comments:

Reference:

HP:0030257

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperpigmented genitalia (HP:0030258)

Hypopigmented genitalia (HP:0030259)

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:0030257	HP:0030257	Freckled genitalia	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0030257	HP:0030257	Freckled genitalia	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948

Genes (2) :BMPR1A PTEN

Diseases (1) :ORPHA:79076

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