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
..Abnormal sperm axoneme morphology (HP:0033524)

Term ID:

33524

Name:

Abnormal sperm axoneme morphology

Synonym:

Definition:

Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.

Comments:

Reference:

HP:0033524

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:0033524	HP:0033524	Abnormal sperm axoneme morphology	0	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0033524	HP:0033524	Abnormal sperm axoneme morphology	0	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0033524	HP:0033524	Abnormal sperm axoneme morphology	0	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43	15
HP:0033524	HP:0033524	Abnormal sperm axoneme morphology	0	WDR19 CL E G H	57728	18340	OMIM:619867		95
HP:0033524	HP:0033525	Absent sperm axoneme central pair complex	1	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0033524	HP:0033525	Absent sperm axoneme central pair complex	1	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43	15
HP:0033524	HP:0033525	Absent sperm axoneme central pair complex	1	WDR19 CL E G H	57728	18340	OMIM:619867		95

Genes (4) :CATIP CFAP91 SPEF2 WDR19

Diseases (4) :OMIM:619379 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.

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