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:
Abnormal large intestine morphology (HP:0002250)

Grandparent Node:
Anorectal anomaly (HP:0012732)

Parent Node:
Abnormal rectum morphology (HP:0002034)

..Starting node
..Rectal prolapse (HP:0002035)

Term ID:

2035

Name:

Rectal prolapse

Synonym:

Rectal prolapsed; Rectum protrudes through anus

Definition:

Protrusion of the rectal mucous membrane through the anus.

Comments:

Reference:

HP:0002035

Genes and Diseases:

Child Nodes:

........

Rectocele (HP:0100822)

Sister Nodes:

Megarectum (HP:0025024)

Neoplasm of the rectum (HP:0100743)

Rectal abscess (HP:0005224)

Rectal atresia (HP:0025023)

Rectal fistula (HP:0100590)

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:0002035	HP:0002035	Rectal prolapse	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0002035	HP:0002035	Rectal prolapse	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0002035	HP:0002035	Rectal prolapse	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0002035	HP:0002035	Rectal prolapse	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0002035	HP:0002035	Rectal prolapse	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002035	HP:0002035	Rectal prolapse	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002035	HP:0002035	Rectal prolapse	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0002035	HP:0002035	Rectal prolapse	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002035	HP:0002035	Rectal prolapse	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002035	HP:0002035	Rectal prolapse	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0002035	HP:0002035	Rectal prolapse	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0002035	HP:0002035	Rectal prolapse	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0002035	HP:0002035	Rectal prolapse	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002035	HP:0002035	Rectal prolapse	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002035	HP:0002035	Rectal prolapse	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002035	HP:0002035	Rectal prolapse	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002035	HP:0002035	Rectal prolapse	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0002035	HP:0002035	Rectal prolapse	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002035	HP:0002035	Rectal prolapse	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002035	HP:0002035	Rectal prolapse	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002035	HP:0002035	Rectal prolapse	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002035	HP:0002035	Rectal prolapse	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002035	HP:0002035	Rectal prolapse	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002035	HP:0002035	Rectal prolapse	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002035	HP:0002035	Rectal prolapse	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0002035	HP:0002035	Rectal prolapse	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002035	HP:0002035	Rectal prolapse	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0002035	HP:0002035	Rectal prolapse	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0002035	HP:0002035	Rectal prolapse	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0002035	HP:0002035	Rectal prolapse	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002035	HP:0002035	Rectal prolapse	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002035	HP:0002035	Rectal prolapse	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002035	HP:0002035	Rectal prolapse	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002035	HP:0002035	Rectal prolapse	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002035	HP:0002035	Rectal prolapse	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0002035	HP:0002035	Rectal prolapse	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002035	HP:0002035	Rectal prolapse	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0002035	HP:0002035	Rectal prolapse	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0002035	HP:0002035	Rectal prolapse	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0002035	HP:0002035	Rectal prolapse	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002035	HP:0002035	Rectal prolapse	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002035	HP:0002035	Rectal prolapse	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002035	HP:0002035	Rectal prolapse	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002035	HP:0002035	Rectal prolapse	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002035	HP:0002035	Rectal prolapse	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0002035	HP:0002035	Rectal prolapse	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0002035	HP:0002035	Rectal prolapse	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0002035	HP:0002035	Rectal prolapse	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002035	HP:0002035	Rectal prolapse	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0002035	HP:0002035	Rectal prolapse	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002035	HP:0002035	Rectal prolapse	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0002035	Rectal prolapse	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002035	HP:0100822	Rectocele	1	CL E G H

Genes (56) :BAZ1B BCL7B BCOR BMPR1A BUD23 CCBE1 CEACAM3 CEACAM6 CFTR CLCA4 CLIP2 COL1A1 COL5A1 COL5A2 DCTN4 DNAJC30 EDNRA EIF4H ELN FCGR2A FKBP6 GCLC GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HFE HMOX1 INSR KCNN4 LIG4 LIMK1 LMNA LTBP4 METTL27 MIF MLXIPL MYH11 NAA10 NCF1 NSUN2 PTEN RFC2 RPS6KA3 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SMAD4 STK11 STX1A TBL2 TGFB1 TMEM270 VPS37D

Diseases (17) :ORPHA:904 OMIM:309800 ORPHA:79076 OMIM:174900 OMIM:235510 ORPHA:586 OMIM:219700 ORPHA:287 OMIM:194050 ORPHA:508 ORPHA:235 OMIM:619793 OMIM:613177 OMIM:619350 OMIM:303600 OMIM:175200 ORPHA:2869

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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