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:
Abnormality of the uterus (HP:0000130)

Parent Node:
Abnormal uterus morphology (HP:0031105)

..Starting node
..Bifid uterus (HP:0000136)

Term ID:

136

Name:

Bifid uterus

Synonym:

Definition:

The presence of a bifid uterus.

Comments:

Reference:

HP:0000136

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal endometrium morphology (HP:0030126)

Bicornuate uterus (HP:0000813)

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)

Uterus didelphys (HP:0003762)

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:0000136	HP:0000136	Bifid uterus	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000136	HP:0000136	Bifid uterus	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000136	HP:0000136	Bifid uterus	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000136	HP:0000136	Bifid uterus	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124

Genes (4) :DACT1 HYLS1 PHGDH SALL1

Diseases (4) :OMIM:617466 OMIM:236680 OMIM:256520 OMIM:107480

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.