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

Grandparent Node:
Abnormal internal genitalia (HP:0000812)

Grandparent Node:
Abnormality of the male genitalia (HP:0010461)

Parent Node:
Abnormal male internal genitalia morphology (HP:0000022)

..Starting node
..Abnormal vas deferens morphology (HP:0012872)

Term ID:

12872

Name:

Abnormal vas deferens morphology

Synonym:

Definition:

A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.

Comments:

Reference:

HP:0012872

Genes and Diseases:

Child Nodes:

........

Absent vas deferens (HP:0012873)

........

Atretic vas deferens (HP:0030997)

Sister Nodes:

Abnormal epididymis morphology (HP:0009714)

Abnormal prostate morphology (HP:0008775)

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:0012872	HP:0012872	Abnormal vas deferens morphology	0	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens		5
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens		1371
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of		1371
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012872	Abnormal vas deferens morphology	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0012872	HP:0034478	Dilated vas deferens	1	CL E G H
HP:0012872	HP:0012873	Absent vas deferens	1	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	5
HP:0012872	HP:0012873	Absent vas deferens	1	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked	.	5
HP:0012872	HP:0012873	Absent vas deferens	1	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome	.	125
HP:0012872	HP:0012873	Absent vas deferens	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012873	Absent vas deferens	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0012872	HP:0012873	Absent vas deferens	1	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	1371
HP:0012872	HP:0012873	Absent vas deferens	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0012872	HP:0012873	Absent vas deferens	1	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of		1371
HP:0012872	HP:0012873	Absent vas deferens	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012873	Absent vas deferens	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012873	Absent vas deferens	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0012872	HP:0012873	Absent vas deferens	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0012872	HP:0012873	Absent vas deferens	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0012872	HP:0012873	Absent vas deferens	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0012872	HP:0012873	Absent vas deferens	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0012872	HP:0012873	Absent vas deferens	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0012872	HP:0030997	Atretic vas deferens	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0012872	HP:0012873	Absent vas deferens	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0012872	HP:0012873	Absent vas deferens	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0012872	HP:0012873	Absent vas deferens	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0012872	HP:0012873	Absent vas deferens	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0012872	HP:0012873	Absent vas deferens	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0012872	HP:0012873	Absent vas deferens	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012873	Absent vas deferens	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0012872	HP:0012873	Absent vas deferens	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0012872	HP:0012873	Absent vas deferens	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13

Genes (22) :ADGRG2 AR CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 HNF1B KCNN4 MIF SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1

Diseases (7) :ORPHA:48 OMIM:300985 OMIM:312300 ORPHA:586 OMIM:277180 ORPHA:93111 OMIM:137920

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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