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 morphology of female internal genitalia (HP:0000008)

Parent Node:
Abnormal vagina morphology (HP:0000142)

..Starting node
..Septate vagina (HP:0001153)

Term ID:

1153

Name:

Septate vagina

Synonym:

Double vagina

Definition:

The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.

Comments:

Reference:

HP:0001153

Genes and Diseases:

Child Nodes:

........

Transverse vaginal septum (HP:0000145)

........

Partial vaginal septum (HP:0008670)

........

Longitudinal vaginal septum (HP:0008740)

Sister Nodes:

Aplasia/Hypoplasia of the vagina (HP:0011026)

Blind vagina (HP:0040314)

Hydrocolpos (HP:0030711)

Hydrometrocolpos (HP:0030010)

Imperforate hymen (HP:0030011)

Urogenital sinus anomaly (HP:0100779)

Vaginal adenosis (HP:0025485)

Vaginal atresia (HP:0000148)

Vaginal dryness (HP:0031088)

Vaginal fistula (HP:0004320)

Vaginal hernia (HP:0100672)

Vaginal neoplasm (HP:0100650)

Vaginal pruritus (HP:0030161)

Vaginal stricture (HP:0025416)

Vaginitis (HP:0030683)

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:0001153	HP:0001153	Septate vagina	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0001153	HP:0001153	Septate vagina	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001153	HP:0001153	Septate vagina	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001153	HP:0001153	Septate vagina	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040283 - Occasional	83
HP:0001153	HP:0001153	Septate vagina	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001153	HP:0001153	Septate vagina	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001153	HP:0001153	Septate vagina	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0001153	HP:0001153	Septate vagina	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0001153	HP:0001153	Septate vagina	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0001153	HP:0001153	Septate vagina	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001153	HP:0001153	Septate vagina	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0001153	HP:0001153	Septate vagina	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0001153	HP:0001153	Septate vagina	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0001153	HP:0008670	Partial vaginal septum	1	CL E G H
HP:0001153	HP:0008740	Longitudinal vaginal septum	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001153	HP:0000145	Transverse vaginal septum	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0001153	HP:0000145	Transverse vaginal septum	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140

Genes (11) :BCOR DHCR7 GATA3 HOXA13 INTU MKKS MNX1 TP63 UBR1 WT1 ZEB2

Diseases (13) :OMIM:300166 OMIM:270400 OMIM:146255 ORPHA:2237 OMIM:140000 OMIM:617925 OMIM:236700 OMIM:176450 OMIM:604292 OMIM:243800 OMIM:608978 ORPHA:261552 ORPHA:261537

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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