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 atrioventricular valve morphology (HP:0006705)

Parent Node:
Abnormal atrioventricular connection (HP:0011546)

Parent Node:
Abnormal mitral valve morphology (HP:0001633)

..Starting node
..Mitral atresia (HP:0011560)

Term ID:

11560

Name:

Mitral atresia

Synonym:

Mitral valve atresia

Definition:

A congenital defect with failure to open of the mitral valve orifice.

Comments:

Reference:

HP:0011560

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal mitral valve annulus morphology (HP:0031478)

Abnormal mitral valve leaflet morphology (HP:0031480)

Abnormal morphology of the chordae tendinae of the mitral valve (HP:0025523)

Dilatation of the mitral annulus (HP:0031479)

Double orifice mitral valve (HP:0011568)

Mitral valve arcade (HP:0011564)

Mitral valve calcification (HP:0004382)

Mitral valve prolapse (HP:0001634)

Supramitral ring (HP:0011572)

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:0011560	HP:0011560	Mitral atresia	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0011560	HP:0011560	Mitral atresia	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0011560	HP:0011560	Mitral atresia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011560	HP:0011560	Mitral atresia	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0011560	HP:0011560	Mitral atresia	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011560	HP:0011560	Mitral atresia	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0011560	HP:0011560	Mitral atresia	0	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.	90
HP:0011560	HP:0011560	Mitral atresia	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare	452
HP:0011560	HP:0011560	Mitral atresia	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39

Genes (8) :CCNQ GJA1 GNB2 MCTP2 MMP21 NKX2-5 NOTCH1 ZIC3

Diseases (8) :ORPHA:140952 ORPHA:2248 OMIM:619503 ORPHA:1596 OMIM:616749 OMIM:614435 OMIM:109730 OMIM:306955

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