Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 intestine morphology (HP:0002242)

Parent Node:
Abnormal large intestine morphology (HP:0002250)

Parent Node:
Bowel diverticulosis (HP:0005222)

..Starting node
..Colonic diverticula (HP:0002253)

Term ID:

2253

Name:

Colonic diverticula

Synonym:

Colon diverticula; Colonic diverticulosis

Definition:

The presence of multiple diverticula of the colon.

Comments:

Reference:

HP:0002253

Genes and Diseases:

Child Nodes:

Sister Nodes:

Small bowel diverticula (HP:0002256)

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:0002253	HP:0002253	Colonic diverticula	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0002253	HP:0002253	Colonic diverticula	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0002253	HP:0002253	Colonic diverticula	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002253	HP:0002253	Colonic diverticula	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0002253	HP:0002253	Colonic diverticula	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002253	HP:0002253	Colonic diverticula	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002253	HP:0002253	Colonic diverticula	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002253	HP:0002253	Colonic diverticula	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002253	HP:0002253	Colonic diverticula	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0002253	HP:0002253	Colonic diverticula	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002253	HP:0002253	Colonic diverticula	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002253	HP:0002253	Colonic diverticula	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0002253	HP:0002253	Colonic diverticula	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0002253	HP:0002253	Colonic diverticula	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0002253	HP:0002253	Colonic diverticula	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys	.	342
HP:0002253	HP:0002253	Colonic diverticula	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0002253	HP:0002253	Colonic diverticula	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0002253	HP:0002253	Colonic diverticula	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0002253	HP:0002253	Colonic diverticula	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002253	HP:0002253	Colonic diverticula	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0002253	HP:0002253	Colonic diverticula	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0002253	HP:0002253	Colonic diverticula	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent

Genes (31) :AKT1 BAZ1B BCL7B BUD23 CLIP2 DNAJC30 EIF4H ELN ERBB3 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLH1 MLXIPL MSH2 NCF1 PIK3CA PKD1 POLG PTEN RET RFC2 STX1A TBL2 TMEM270 TYMP UBR1 VPS37D

Diseases (11) :OMIM:615109 ORPHA:904 OMIM:194050 OMIM:243180 OMIM:158320 OMIM:615108 OMIM:173900 OMIM:603041 OMIM:158350 OMIM:162300 OMIM:243800

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen