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 reproductive system morphology (HP:0012243)

Parent Node:
Abnormal external genitalia (HP:0000811)

..Starting node
..Abnormal genital pigmentation (HP:0012293)

Term ID:

12293

Name:

Abnormal genital pigmentation

Synonym:

Definition:

An abnormal pigmentation pattern of the external genitalia.

Comments:

Reference:

HP:0012293

Genes and Diseases:

Child Nodes:

........

Freckled genitalia (HP:0030257)

........

Hyperpigmented genitalia (HP:0030258)

........

Hypopigmented genitalia (HP:0030259)

Sister Nodes:

Abnormality of female external genitalia (HP:0000055)

Abnormality of male external genitalia (HP:0000032)

Absent external genitalia (HP:0000042)

Ambiguous genitalia (HP:0000062)

External genital hypoplasia (HP:0003241)

Overgrowth of external genitalia (HP:0003247)

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:0012293	HP:0012293	Abnormal genital pigmentation	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0012293	HP:0012293	Abnormal genital pigmentation	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0012293	HP:0030259	Hypopigmented genitalia	1	CL E G H
HP:0012293	HP:0030258	Hyperpigmented genitalia	1	CL E G H
HP:0012293	HP:0030257	Freckled genitalia	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0012293	HP:0030257	Freckled genitalia	1	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.