Human Phenotype Ontology

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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
..Interrupted aortic arch (HP:0011611)

Term ID:

11611

Name:

Interrupted aortic arch

Synonym:

Aortic arch obstruction; Atretic transverse aortic arch

Definition:

Non-continuity of the arch of aorta with an atretic point or absent segment.

Comments:

Reference:

HP:0011611

Genes and Diseases:

Child Nodes:

........

Interrupted aortic arch type A (HP:0011612)

........

Interrupted aortic arch type B (HP:0011613)

........

Interrupted aortic arch type C (HP:0011614)

Sister Nodes:

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

Coarctation of the descending aortic arch (HP:0012305)

Hypoplastic aortic arch (HP:0012304)

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:0011611	HP:0011611	Interrupted aortic arch	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0011611	HP:0011611	Interrupted aortic arch	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011611	HP:0011611	Interrupted aortic arch	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011611	HP:0011611	Interrupted aortic arch	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011611	HP:0011611	Interrupted aortic arch	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0011611	HP:0011611	Interrupted aortic arch	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011611	HP:0011611	Interrupted aortic arch	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0011611	HP:0011611	Interrupted aortic arch	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0011611	HP:0011611	Interrupted aortic arch	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011611	HP:0011611	Interrupted aortic arch	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0011611	HP:0011611	Interrupted aortic arch	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0011611	HP:0011611	Interrupted aortic arch	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011611	HP:0011611	Interrupted aortic arch	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0011611	HP:0011611	Interrupted aortic arch	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0011611	HP:0011611	Interrupted aortic arch	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0011611	HP:0011611	Interrupted aortic arch	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0011611	HP:0011611	Interrupted aortic arch	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0011611	HP:0011611	Interrupted aortic arch	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0011611	HP:0011611	Interrupted aortic arch	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0011611	HP:0011611	Interrupted aortic arch	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0011611	HP:0011611	Interrupted aortic arch	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0011611	HP:0011611	Interrupted aortic arch	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0011611	HP:0011611	Interrupted aortic arch	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0011611	HP:0011611	Interrupted aortic arch	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0011611	HP:0011614	Interrupted aortic arch type C	1	CL E G H
HP:0011611	HP:0011613	Interrupted aortic arch type B	1	CL E G H
HP:0011611	HP:0011612	Interrupted aortic arch type A	1	CL E G H

Genes (20) :CHD7 DGCR2 DGCR6 DGCR8 DIS3L2 ESS2 FGFR1 FOXF1 GATA6 KRAS MMP21 MYCN MYRF NKX2-6 PLXND1 SEMA3E SMG9 SUCLG1 TBX1 TMEM260

Diseases (17) :ORPHA:138 OMIM:192430 OMIM:267000 ORPHA:2396 OMIM:265380 OMIM:600001 ORPHA:2255 OMIM:616749 OMIM:164280 ORPHA:391641 OMIM:618280 ORPHA:3384 OMIM:616920 ORPHA:17 ORPHA:1727 OMIM:188400 OMIM:617478

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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