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
..Absent sperm flagella (HP:0032558)

Term ID:

32558

Name:

Absent sperm flagella

Synonym:

Definition:

Sperm cells lacking flagella.

Comments:

Reference:

HP:0032558

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032558	HP:0032558	Absent sperm flagella	0	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0032558	HP:0032558	Absent sperm flagella	0	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0032558	HP:0032558	Absent sperm flagella	0	CFAP251 CL E G H	144406	28506	OMIM:618152	Spermatogenic failure 33	.
HP:0032558	HP:0032558	Absent sperm flagella	0	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19	.	6
HP:0032558	HP:0032558	Absent sperm flagella	0	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20	.	1
HP:0032558	HP:0032558	Absent sperm flagella	0	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0032558	HP:0032558	Absent sperm flagella	0	CFAP58 CL E G H	159686	26676	OMIM:619144	SPERMATOGENIC FAILURE 49; SPGF49
HP:0032558	HP:0032558	Absent sperm flagella	0	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0032558	HP:0032558	Absent sperm flagella	0	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0032558	HP:0032558	Absent sperm flagella	0	DNAH1 CL E G H	25981	2940	OMIM:617576	Spermatogenic failure 18	.	21
HP:0032558	HP:0032558	Absent sperm flagella	0	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0032558	HP:0032558	Absent sperm flagella	0	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0032558	HP:0032558	Absent sperm flagella	0	DNAH2 CL E G H	146754	2948	OMIM:619094	SPERMATOGENIC FAILURE 45; SPGF45		15
HP:0032558	HP:0032558	Absent sperm flagella	0	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46		153
HP:0032558	HP:0032558	Absent sperm flagella	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0032558	HP:0032558	Absent sperm flagella	0	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0032558	HP:0032558	Absent sperm flagella	0	FSIP2 CL E G H	401024	21675	OMIM:618153	Spermatogenic failure 34	.	1
HP:0032558	HP:0032558	Absent sperm flagella	0	QRICH2 CL E G H	84074	25326	OMIM:618341	Spermatogenic failure 35	.
HP:0032558	HP:0032558	Absent sperm flagella	0	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43		15
HP:0032558	HP:0032558	Absent sperm flagella	0	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0032558	HP:0032558	Absent sperm flagella	0	TTC29 CL E G H	83894	29936	OMIM:618745	SPERMATOGENIC FAILURE 42; SPGF42
HP:0032558	HP:0032558	Absent sperm flagella	0	WDR19 CL E G H	57728	18340	OMIM:619867			95

Genes (22) :ARMC2 CCDC34 CFAP251 CFAP43 CFAP44 CFAP47 CFAP58 CFAP65 CFAP91 DNAH1 DNAH10 DNAH17 DNAH2 DNAH8 DNHD1 DZIP1 FSIP2 QRICH2 SPEF2 TTC21A TTC29 WDR19

Diseases (22) :OMIM:618433 OMIM:620084 OMIM:618152 OMIM:617592 OMIM:617593 OMIM:301059 OMIM:619144 OMIM:618664 OMIM:619177 OMIM:617576 OMIM:619515 OMIM:618643 OMIM:619094 OMIM:619095 OMIM:619712 OMIM:619102 OMIM:618153 OMIM:618341 OMIM:618751 OMIM:618429 OMIM:618745 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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