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
..Genital ulcers (HP:0003249)

Term ID:

3249

Name:

Genital ulcers

Synonym:

Genital ulcers

Definition:

Comments:

Reference:

HP:0003249

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)

Anteriorly displaced genitalia (HP:0003252)

Genital tract atresia (HP:0001827)

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:0003249	HP:0003249	Genital ulcers	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0003249	HP:0003249	Genital ulcers	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26

Genes (2) :DCLRE1C TNFAIP3

Diseases (2) :OMIM:602450 OMIM:616744

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