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 aortic morphology (HP:0001679)

Parent Node:
Abnormal aortic arch morphology (HP:0012303)

..Starting node
..Hypoplastic aortic arch (HP:0012304)

Term ID:

12304

Name:

Hypoplastic aortic arch

Synonym:

Aortic arch hypoplasia; Underdeveloped aortic arch

Definition:

Underdevelopment of the arch of aorta.

Comments:

Reference:

HP:0012304

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal branching pattern of the aortic arch (HP:0011587)

Coarctation of the descending aortic arch (HP:0012305)

Interrupted aortic arch (HP:0011611)

Pseudocoarctation of the aorta (HP:0005295)

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:0012304	HP:0012304	Hypoplastic aortic arch	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040282 - Frequent	68
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040282 - Frequent	90
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0012304	HP:0012304	Hypoplastic aortic arch	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0012304	HP:0034229	Distal aortic arch hypoplasia	1	CL E G H
HP:0012304	HP:0034228	Proximal aortic arch hypoplasia	1	CL E G H
HP:0012304	HP:0034227	Aortic isthmus hypoplasia	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0012304	HP:0034227	Aortic isthmus hypoplasia	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250

Genes (13) :BCOR CIROP CREBBP EP300 FOXF1 GJA1 GNB2 MAP3K7 NKX2-5 PPP1CB PPP2R1A PUF60 ZIC3

Diseases (11) :OMIM:300166 OMIM:619702 OMIM:180849 OMIM:265380 ORPHA:2248 OMIM:619503 OMIM:157800 OMIM:617506 ORPHA:457284 ORPHA:508488 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