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 sperm morphology (HP:0012864)

Parent Node:
Abnormal sperm head morphology (HP:0012865)

..Starting node
..Acephalic spermatozoa (HP:0012869)

Term ID:

12869

Name:

Acephalic spermatozoa

Synonym:

Definition:

Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.

Comments:

Reference:

HP:0012869

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased acrosin in sperm head (HP:0031136)

Globozoospermia (HP:0012205)

Macrocephalic sperm head (HP:0025437)

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:0012869	HP:0012869	Acephalic spermatozoa	0	BRDT CL E G H	676	1105	OMIM:617644	Spermatogenic failure 21	.	1
HP:0012869	HP:0012869	Acephalic spermatozoa	0	CEP112 CL E G H	201134	28514	OMIM:619044	SPERMATOGENIC FAILURE 44; SPGF44		1
HP:0012869	HP:0012869	Acephalic spermatozoa	0	PMFBP1 CL E G H	83449	17728	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040281 - Very frequent
HP:0012869	HP:0012869	Acephalic spermatozoa	0	PMFBP1 CL E G H	83449	17728	OMIM:618112	SPERMATOGENIC FAILURE 31; SPGF31
HP:0012869	HP:0012869	Acephalic spermatozoa	0	SUN5 CL E G H	140732	16252	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040281 - Very frequent	6
HP:0012869	HP:0012869	Acephalic spermatozoa	0	SUN5 CL E G H	140732	16252	OMIM:617187	Spermatogenic failure 16	.	6
HP:0012869	HP:0012869	Acephalic spermatozoa	0	TSGA10 CL E G H	80705	14927	OMIM:617961	Spermatogenic failure 26	.

Genes (5) :BRDT CEP112 PMFBP1 SUN5 TSGA10

Diseases (6) :OMIM:617644 OMIM:619044 ORPHA:529970 OMIM:618112 OMIM:617187 OMIM:617961

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