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 heart morphology (HP:0001627)

Parent Node:
Congenital malformation of the left heart (HP:0045017)

Parent Node:
Hypoplastic heart (HP:0001961)

..Starting node
..Hypoplastic left heart (HP:0004383)

Term ID:

4383

Name:

Hypoplastic left heart

Synonym:

Heart left ventricle hypoplasia; Left ventricular hypoplasia; Underdeveloped left heart

Definition:

Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.

Comments:

Reference:

HP:0004383

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic right heart (HP:0010954)

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:0004383	HP:0004383	Hypoplastic left heart	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0004383	HP:0004383	Hypoplastic left heart	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040284 - Very rare	36
HP:0004383	HP:0004383	Hypoplastic left heart	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0004383	HP:0004383	Hypoplastic left heart	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0004383	HP:0004383	Hypoplastic left heart	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004383	HP:0004383	Hypoplastic left heart	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004383	HP:0004383	Hypoplastic left heart	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040284 - Very rare	24
HP:0004383	HP:0004383	Hypoplastic left heart	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0004383	HP:0004383	Hypoplastic left heart	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0004383	HP:0004383	Hypoplastic left heart	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0004383	HP:0004383	Hypoplastic left heart	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0004383	HP:0004383	Hypoplastic left heart	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0004383	HP:0004383	Hypoplastic left heart	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004383	HP:0004383	Hypoplastic left heart	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040282 - Frequent	61
HP:0004383	HP:0004383	Hypoplastic left heart	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0004383	HP:0004383	Hypoplastic left heart	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	10
HP:0004383	HP:0004383	Hypoplastic left heart	0	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5		37
HP:0004383	HP:0004383	Hypoplastic left heart	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040281 - Very frequent	68
HP:0004383	HP:0004383	Hypoplastic left heart	0	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0004383	HP:0004383	Hypoplastic left heart	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004383	HP:0004383	Hypoplastic left heart	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0004383	HP:0004383	Hypoplastic left heart	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0004383	HP:0004383	Hypoplastic left heart	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0004383	HP:0004383	Hypoplastic left heart	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0004383	HP:0004383	Hypoplastic left heart	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0004383	HP:0004383	Hypoplastic left heart	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0004383	HP:0004383	Hypoplastic left heart	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0004383	HP:0004383	Hypoplastic left heart	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	90
HP:0004383	HP:0004383	Hypoplastic left heart	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040281 - Very frequent	90
HP:0004383	HP:0004383	Hypoplastic left heart	0	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.	90
HP:0004383	HP:0004383	Hypoplastic left heart	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	452
HP:0004383	HP:0004383	Hypoplastic left heart	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0004383	HP:0004383	Hypoplastic left heart	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.	13
HP:0004383	HP:0004383	Hypoplastic left heart	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent	641
HP:0004383	HP:0004383	Hypoplastic left heart	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0004383	HP:0004383	Hypoplastic left heart	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	33
HP:0004383	HP:0004383	Hypoplastic left heart	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0004383	HP:0004383	Hypoplastic left heart	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0004383	HP:0004383	Hypoplastic left heart	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	HP:0040284 - Very rare	1
HP:0004383	HP:0004383	Hypoplastic left heart	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0004383	HP:0004383	Hypoplastic left heart	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.	123
HP:0004383	HP:0004383	Hypoplastic left heart	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0004383	HP:0004383	Hypoplastic left heart	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0004383	HP:0004383	Hypoplastic left heart	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0004383	HP:0004383	Hypoplastic left heart	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0004383	HP:0004383	Hypoplastic left heart	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0004383	HP:0004383	Hypoplastic left heart	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040282 - Frequent	177
HP:0004383	HP:0004383	Hypoplastic left heart	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004383	HP:0004383	Hypoplastic left heart	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39

Genes (40) :ARHGAP31 B3GLCT CCDC22 CDK8 CFAP53 CIROP COQ4 CPLANE1 CREBBP DTNA EP300 FLI1 FOXF1 GATA4 GATA5 GATA6 GJA1 GNB2 H3-3B HAAO KYNU MCTP2 MKKS MYRF NADSYN1 NKX2-5 NOTCH1 NR2F2 PAH PKD1L1 SMAD6 SPOP STAG2 TBX1 TBX5 TMEM218 TRAF7 WASHC5 WT1 ZIC3

Diseases (43) :OMIM:100300 ORPHA:709 ORPHA:7 OMIM:618748 OMIM:614779 OMIM:619702 OMIM:616276 OMIM:277170 OMIM:180849 OMIM:604169 ORPHA:2308 OMIM:265380 ORPHA:210122 ORPHA:251071 ORPHA:402075 OMIM:614474 ORPHA:2248 OMIM:241550 OMIM:619503 OMIM:619721 OMIM:617660 OMIM:617661 ORPHA:1596 ORPHA:2473 OMIM:618280 OMIM:618845 OMIM:614435 OMIM:618901 OMIM:615779 ORPHA:2209 OMIM:617205 OMIM:618829 OMIM:301043 OMIM:301022 ORPHA:1727 OMIM:142900 ORPHA:392 OMIM:619562 OMIM:618164 OMIM:220210 ORPHA:3097 OMIM:608978 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