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

Human Phenotype Ontology

Grandparent Node:
Phenotypic abnormality (HP:0000118)

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

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..Starting node
..Abnormality of the musculature of the thorax (HP:0009131)

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Term ID:

9131

Name:

Abnormality of the musculature of the thorax

Synonym:

Definition:

A disease or lesion affecting the muscles of the thorax.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Hypoplasia of serratus anterior muscle (HP:0009011)

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Hypoplasia of latissimus dorsi muscle (HP:0009026)

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Abnormality of the pectoral muscle (HP:0011957)

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................... HP:0005255 Absence of pectoralis minor muscle
................... HP:0005256 Unilateral absence of pectoralis major muscle
................... HP:0008953 Pectoralis major hypoplasia
................... HP:0011959 Unilateral hypoplasia of pectoralis major muscle
................... HP:0012037 Pectoralis amyotrophy

Sister Nodes:

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Abnormal axial muscle morphology (HP:0040286)

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Abnormal hyoglossus muscle morphology (HP:3000051)

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Abnormal lateral cricoarytenoid muscle morphology (HP:3000067)

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Abnormal mitochondria in muscle tissue (HP:0008316)

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Abnormal morphology of musculature of pharynx (HP:0430015)

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Abnormal morphology of the abdominal musculature (HP:0010991)

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Abnormal morphology of the chest musculature (HP:0410167)

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Abnormal morphology of the musculature of the neck (HP:0011006)

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Abnormal morphology of the pelvis musculature (HP:0001469)

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Abnormal morphology of the shoulder musculature (HP:0410169)

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Abnormal muscle physiology (HP:0011804)

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Abnormal skeletal muscle morphology (HP:0011805)

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Abnormality of facial musculature (HP:0000301)

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Abnormality of musculature of soft palate (HP:0430014)

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Abnormality of occipitofrontalis muscle (HP:0040172)

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Abnormality of the back musculature (HP:0410168)

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Abnormality of the diaphragm (HP:0000775)

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Abnormality of the extraocular muscles (HP:0008049)

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Abnormality of the musculature of the limbs (HP:0009127)

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Abnormality of the tongue muscle (HP:0040173)

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Calcification of muscles (HP:0100249)

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Gastroparesis (HP:0002578)

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Increased intramuscular fat (HP:0008985)

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Muscle abnormality related to mitochondrial dysfunction (HP:0003800)

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Muscle hemorrhage (HP:0040242)

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Neoplasm of striated muscle (HP:0009728)

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obsolete Abnormality of skeletal muscles (HP:0040290)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009131	HP:0009131	Abnormality of the musculature of the thorax	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1				323
HP:0009131	HP:0009131	Abnormality of the musculature of the thorax	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome				165
HP:0009131	HP:0009131	Abnormality of the musculature of the thorax	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome				86
HP:0009131	HP:0009026	Hypoplasia of latissimus dorsi muscle	1	CL E G H
HP:0009131	HP:0009011	Hypoplasia of serratus anterior muscle	1	CL E G H
HP:0009131	HP:0011957	Abnormal pectoral muscle morphology	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1				323
HP:0009131	HP:0011957	Abnormal pectoral muscle morphology	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome				165
HP:0009131	HP:0011957	Abnormal pectoral muscle morphology	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome				86
HP:0009131	HP:0011959	Unilateral hypoplasia of pectoralis major muscle	2	CL E G H
HP:0009131	HP:0005256	Unilateral absence of pectoralis major muscle	2	CL E G H
HP:0009131	HP:0012037	Pectoralis amyotrophy	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent			323
HP:0009131	HP:0005255	Absence of pectoralis minor muscle	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.			165
HP:0009131	HP:0008953	Pectoralis major hypoplasia	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.			86

Genes (3) :CAPN3 LMX1B SALL4

Diseases (3) :ORPHA:267 OMIM:161200 OMIM:147750

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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