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 internal genitalia (HP:0000812)

..Starting node
..Agonadism (HP:0008633)

Term ID:

8633

Name:

Agonadism

Synonym:

Absent gonadal tissue; Gonadal agenesis

Definition:

Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).

Comments:

Reference:

HP:0008633

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal male internal genitalia morphology (HP:0000022)

Abnormal morphology of female internal genitalia (HP:0000008)

Absent internal genitalia (HP:0008702)

Gonadal calcification (HP:0008703)

Gonadal dysgenesis (HP:0000133)

Gonadal hypoplasia (HP:0008639)

Gonadoblastoma (HP:0000150)

Splenogonadal fusion (HP:0025410)

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:0008633	HP:0008633	Agonadism	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0008633	HP:0008633	Agonadism	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2

Genes (2) :DHX37 TRAIP

Diseases (2) :ORPHA:983 OMIM:616777

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