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 spermatogenesis (HP:0008669)

Parent Node:
Spermatogenesis maturation arrest (HP:0031038)

..Starting node
..Early spermatogenesis maturation arrest (HP:0031039)

Term ID:

31039

Name:

Early spermatogenesis maturation arrest

Synonym:

Spermatocytic arrest

Definition:

A type of maturation arrest in which only spermatogonia or spermatocytes are found.

Comments:

Reference:

HP:0031039

Genes and Diseases:

Child Nodes:

Sister Nodes:

Late spermatogenesis maturation arrest (HP:0031040)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031039	HP:0031039	Early spermatogenesis maturation arrest	0	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62	4
HP:0031039	HP:0031039	Early spermatogenesis maturation arrest	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0031039	HP:0031039	Early spermatogenesis maturation arrest	0	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61	4

Genes (3) :RNF212 SHOC1 STAG3

Diseases (3) :OMIM:619673 OMIM:619949 OMIM:619672

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