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 atrioventricular valve morphology (HP:0006705)

Parent Node:
Abnormal mitral valve morphology (HP:0001633)

..Starting node
..Abnormal morphology of the chordae tendinae of the mitral valve (HP:0025523)

Term ID:

25523

Name:

Abnormal morphology of the chordae tendinae of the mitral valve

Synonym:

Definition:

A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.

Comments:

Reference:

HP:0025523

Genes and Diseases:

Child Nodes:

........

Parachute mitral valve (HP:0011571)

........

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

........

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

Sister Nodes:

Abnormal mitral valve annulus morphology (HP:0031478)

Abnormal mitral valve leaflet morphology (HP:0031480)

Dilatation of the mitral annulus (HP:0031479)

Double orifice mitral valve (HP:0011568)

Mitral atresia (HP:0011560)

Mitral valve arcade (HP:0011564)

Mitral valve calcification (HP:0004382)

Mitral valve prolapse (HP:0001634)

Supramitral ring (HP:0011572)

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:0025523	HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0025523	HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0025523	HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0025523	HP:0034419	Mitral chordae tendinae rupture	1	CL E G H
HP:0025523	HP:0025522	Elongated chordae tendinae of the mitral valve	1	CL E G H
HP:0025523	HP:0011580	Short chordae tendineae of the mitral valve	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.	493
HP:0025523	HP:0011571	Parachute mitral valve	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0025523	HP:0011571	Parachute mitral valve	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1

Genes (3) :FLNA FOXF1 TMEM94

Diseases (3) :OMIM:314400 OMIM:265380 OMIM:618316

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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