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 male germ cell morphology (HP:0012863)

Parent Node:
Abnormal sperm morphology (HP:0012864)

..Starting node
..Abnormal sperm mid-piece morphology (HP:0012867)

Term ID:

12867

Name:

Abnormal sperm mid-piece morphology

Synonym:

Sperm mid-piece anomaly

Definition:

A structural abnormality of the sperm mid-piece.

Comments:

Reference:

HP:0012867

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal sperm head morphology (HP:0012865)

Abnormal sperm neck morphology (HP:0012866)

Abnormal sperm tail morphology (HP:0012868)

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:0012867	HP:0012867	Abnormal sperm mid-piece morphology	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0012867	HP:0012867	Abnormal sperm mid-piece morphology	0	PMFBP1 CL E G H	83449	17728	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040283 - Occasional
HP:0012867	HP:0012867	Abnormal sperm mid-piece morphology	0	SUN5 CL E G H	140732	16252	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040283 - Occasional	6

Genes (3) :DNHD1 PMFBP1 SUN5

Diseases (2) :OMIM:619712 ORPHA:529970

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