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

Grandparent Node:
Abnormal reproductive system morphology (HP:0012243)

Parent Node:
Abnormal vagina morphology (HP:0000142)

Parent Node:
Genital tract atresia (HP:0001827)

..Starting node
..Vaginal atresia (HP:0000148)

Term ID:

148

Name:

Vaginal atresia

Synonym:

Abnormally closed or absent vagina

Definition:

Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.

Comments:

Reference:

HP:0000148

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:0000148	HP:0000148	Vaginal atresia	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0000148	HP:0000148	Vaginal atresia	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0000148	HP:0000148	Vaginal atresia	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0000148	HP:0000148	Vaginal atresia	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0000148	HP:0000148	Vaginal atresia	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000148	HP:0000148	Vaginal atresia	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000148	HP:0000148	Vaginal atresia	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000148	HP:0000148	Vaginal atresia	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0000148	HP:0000148	Vaginal atresia	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0000148	HP:0000148	Vaginal atresia	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare	83
HP:0000148	HP:0000148	Vaginal atresia	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0000148	HP:0000148	Vaginal atresia	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000148	HP:0000148	Vaginal atresia	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional	9
HP:0000148	HP:0000148	Vaginal atresia	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0000148	HP:0000148	Vaginal atresia	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0000148	HP:0000148	Vaginal atresia	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000148	HP:0000148	Vaginal atresia	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000148	HP:0000148	Vaginal atresia	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000148	HP:0000148	Vaginal atresia	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0000148	HP:0000148	Vaginal atresia	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040281 - Very frequent	177

Genes (16) :ARL6 BBS1 CCDC28B DYNC2LI1 FGFR2 FRAS1 FREM2 GATA3 GRIP1 ITGA8 KIF14 MKKS POR RSPO2 WNT3 WT1

Diseases (14) :OMIM:209900 OMIM:617088 OMIM:207410 OMIM:101200 OMIM:219000 ORPHA:2052 ORPHA:2237 OMIM:191830 OMIM:616258 OMIM:605231 OMIM:236700 ORPHA:3301 OMIM:273395 ORPHA:3097

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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