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 mitral valve morphology (HP:0001633)

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

..Starting node
..Short chordae tendineae of the mitral valve (HP:0011580)

Term ID:

11580

Name:

Short chordae tendineae of the mitral valve

Synonym:

Definition:

Abnormally short chordae tendineae of the mitral valve.

Comments:

Reference:

HP:0011580

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elongated chordae tendinae of the mitral valve (HP:0025522)

Parachute mitral valve (HP:0011571)

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:0011580	HP:0011580	Short chordae tendineae of the mitral valve	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.	493

Genes (1) :FLNA

Diseases (1) :OMIM:314400

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