Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

..Starting node
..Irregularly shaped sperm tail (HP:0033393)

Term ID:

33393

Name:

Irregularly shaped sperm tail

Synonym:

Sperm flagella with irregular caliber; Sperm flagella with irregular calibre

Definition:

Irregular or changing caliber (diameter) along the tail of the sperm.

Comments:

Reference:

HP:0033393

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033393	HP:0033393	Irregularly shaped sperm tail	0	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3	1
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56	18
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46	153
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58	3
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0033393	HP:0033393	Irregularly shaped sperm tail	0	WDR19 CL E G H	57728	18340	OMIM:619867		95

Genes (9) :CCDC34 CFAP47 CFAP91 DNAH10 DNAH8 DNHD1 IFT74 TTC21A WDR19

Diseases (9) :OMIM:620084 OMIM:301059 OMIM:619177 OMIM:619515 OMIM:619095 OMIM:619712 OMIM:619585 OMIM:618429 OMIM:619867

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

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