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 anatomic location of the heart (HP:0004307)

Parent Node:
Ectopia cordis (HP:0001683)

..Starting node
..Thoracocervical ectopia cordis (HP:0011584)

Term ID:

11584

Name:

Thoracocervical ectopia cordis

Synonym:

Definition:

A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.

Comments:

Reference:

HP:0011584

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abdominal ectopia cordis (HP:0011582)

Cervical ectopia cordis (HP:0011583)

Thoracic ectopia cordis (HP:0011585)

Thoracoabdominal ectopia cordis (HP:0011586)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011584	HP:0011584	Thoracocervical ectopia cordis	0	CL E G H

Genes (0) :

Diseases (0) :

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