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:
Abnormality of the uterus (HP:0000130)

Parent Node:
Abnormal uterus morphology (HP:0031105)

..Starting node
..Uterus didelphys (HP:0003762)

Term ID:

3762

Name:

Uterus didelphys

Synonym:

Double uterus

Definition:

A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.

Comments:

Reference:

HP:0003762

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal endometrium morphology (HP:0030126)

Bicornuate uterus (HP:0000813)

Bifid uterus (HP:0000136)

Enlarged uterus (HP:0100878)

T-shaped uterus (HP:0031106)

Uterine neoplasm (HP:0010784)

Uterine prolapse (HP:0000139)

Uterine rupture (HP:0100718)

Uterine synechiae (HP:0030712)

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:0003762	HP:0003762	Uterus didelphys	0	AXIN1 CL E G H	8312	903	OMIM:607864	CAUDAL DUPLICATION ANOMALY		3
HP:0003762	HP:0003762	Uterus didelphys	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0003762	HP:0003762	Uterus didelphys	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0003762	HP:0003762	Uterus didelphys	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0003762	HP:0003762	Uterus didelphys	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0003762	HP:0003762	Uterus didelphys	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040283 - Occasional	83
HP:0003762	HP:0003762	Uterus didelphys	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0003762	HP:0003762	Uterus didelphys	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0003762	HP:0003762	Uterus didelphys	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003762	HP:0003762	Uterus didelphys	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003762	HP:0003762	Uterus didelphys	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136

Genes (10) :AXIN1 DYNC2H1 DYNC2I1 DYNC2I2 GATA3 HOXA13 IFT80 INTU PPP1R12A WDR35

Diseases (7) :OMIM:607864 ORPHA:93271 OMIM:146255 ORPHA:2237 OMIM:140000 OMIM:617925 OMIM:618820

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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