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:
Abnormality of the head (HP:0000234)

Parent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormality of the pharynx (HP:0000600)

..Starting node
..Abnormal morphology of musculature of pharynx (HP:0430015)

Term ID:

430015

Name:

Abnormal morphology of musculature of pharynx

Synonym:

Abnormality of muscles of the pharynx; Abnormality of musculature of pharynx; Abnormality of pharyngeal musculature; Abnormality of pharynx musculature

Definition:

An abnormality of any of the muscles of the pharynx.

Comments:

Reference:

HP:0430015

Genes and Diseases:

Child Nodes:

........

Abnormality of palatopharyngeus muscle (HP:3000012)

Sister Nodes:

Abnormal hypopharynx morphology (HP:3000053)

Abnormal nasopharynx morphology (HP:0001739)

Hypoplasia of the pharynx (HP:0009555)

Oral-pharyngeal dysphagia (HP:0200136)

Pharyngeal edema (HP:0011855)

Pharyngitis (HP:0025439)

Posterior pharyngeal cleft (HP:0006783)

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:0430015	HP:0430015	Abnormal morphology of musculature of pharynx	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0430015	HP:0430015	Abnormal morphology of musculature of pharynx	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0430015	HP:0430015	Abnormal morphology of musculature of pharynx	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0430015	HP:0430015	Abnormal morphology of musculature of pharynx	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60
HP:0430015	HP:3000012	Abnormality of palatopharyngeus muscle	1	CL E G H

Genes (4) :GIPC1 MATR3 NOTCH2NLC PLP1

Diseases (3) :ORPHA:98897 ORPHA:600 ORPHA:280210

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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