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

..Starting node
..Absent sperm axoneme central pair complex (HP:0033525)

Term ID:

33525

Name:

Absent sperm axoneme central pair complex

Synonym:

Absent central pair complex (9+0 pattern)

Definition:

Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.

Comments:

Reference:

HP:0033525

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:0033525	HP:0033525	Absent sperm axoneme central pair complex	0	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0033525	HP:0033525	Absent sperm axoneme central pair complex	0	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43	15
HP:0033525	HP:0033525	Absent sperm axoneme central pair complex	0	WDR19 CL E G H	57728	18340	OMIM:619867		95

Genes (3) :CFAP91 SPEF2 WDR19

Diseases (3) :OMIM:619177 OMIM:618751 OMIM:619867

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