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
..Bicornuate uterus (HP:0000813)

Term ID:

813

Name:

Bicornuate uterus

Synonym:

Heart shaped uterus; Heart-shaped uterus; Uterus bicornis

Definition:

The presence of a bicornuate uterus.

Comments:

Reference:

HP:0000813

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal endometrium morphology (HP:0030126)

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)

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:0000813	HP:0000813	Bicornuate uterus	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000813	HP:0000813	Bicornuate uterus	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000813	HP:0000813	Bicornuate uterus	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000813	HP:0000813	Bicornuate uterus	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000813	HP:0000813	Bicornuate uterus	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000813	HP:0000813	Bicornuate uterus	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000813	HP:0000813	Bicornuate uterus	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000813	HP:0000813	Bicornuate uterus	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000813	HP:0000813	Bicornuate uterus	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000813	HP:0000813	Bicornuate uterus	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000813	HP:0000813	Bicornuate uterus	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000813	HP:0000813	Bicornuate uterus	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0000813	HP:0000813	Bicornuate uterus	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0000813	HP:0000813	Bicornuate uterus	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0000813	HP:0000813	Bicornuate uterus	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000813	HP:0000813	Bicornuate uterus	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000813	HP:0000813	Bicornuate uterus	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000813	HP:0000813	Bicornuate uterus	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000813	HP:0000813	Bicornuate uterus	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000813	HP:0000813	Bicornuate uterus	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0000813	HP:0000813	Bicornuate uterus	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000813	HP:0000813	Bicornuate uterus	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0000813	HP:0000813	Bicornuate uterus	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000813	HP:0000813	Bicornuate uterus	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000813	HP:0000813	Bicornuate uterus	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040283 - Occasional	289
HP:0000813	HP:0000813	Bicornuate uterus	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000813	HP:0000813	Bicornuate uterus	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000813	HP:0000813	Bicornuate uterus	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040284 - Very rare	57
HP:0000813	HP:0000813	Bicornuate uterus	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000813	HP:0000813	Bicornuate uterus	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000813	HP:0000813	Bicornuate uterus	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0000813	HP:0000813	Bicornuate uterus	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000813	HP:0000813	Bicornuate uterus	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000813	HP:0000813	Bicornuate uterus	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0000813	HP:0000813	Bicornuate uterus	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000813	HP:0000813	Bicornuate uterus	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000813	HP:0000813	Bicornuate uterus	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000813	HP:0000813	Bicornuate uterus	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000813	HP:0000813	Bicornuate uterus	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000813	HP:0000813	Bicornuate uterus	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000813	HP:0000813	Bicornuate uterus	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0000813	HP:0000813	Bicornuate uterus	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000813	HP:0000813	Bicornuate uterus	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0000813	HP:0000813	Bicornuate uterus	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000813	HP:0000813	Bicornuate uterus	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000813	HP:0000813	Bicornuate uterus	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0000813	HP:0000813	Bicornuate uterus	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125

Genes (51) :ALG9 BRCA1 BRCA2 BRIP1 CCNQ DHCR7 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 FOXF1 FRAS1 FREM2 GRIP1 HNF1B HOXA13 ITGA8 LARS2 LRP2 MAD2L2 MID1 MNX1 PALB2 PIGN RAD51 RAD51C RARB RFWD3 RIPK4 SETBP1 SF3B4 SLX4 SPECC1L SRY STRA6 TBX3 TNXB UBE2T WT1 XRCC2

Diseases (31) :ORPHA:79328 OMIM:263210 ORPHA:84 ORPHA:140952 OMIM:300707 OMIM:270400 OMIM:268300 ORPHA:2363 OMIM:265380 OMIM:219000 ORPHA:2052 ORPHA:93111 OMIM:137920 ORPHA:2438 OMIM:191830 OMIM:615300 ORPHA:2143 OMIM:222448 ORPHA:2745 OMIM:176450 ORPHA:2059 OMIM:615524 OMIM:263650 OMIM:269150 OMIM:154400 OMIM:145420 OMIM:400045 OMIM:601186 OMIM:181450 OMIM:606408 OMIM:608978

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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