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 musculature (HP:0003011)

Parent Node:
Abnormality of the musculature of the thorax (HP:0009131)

..Starting node
..Abnormal pectoral muscle morphology (HP:0011957)

Term ID:

11957

Name:

Abnormal pectoral muscle morphology

Synonym:

Abnormal pec muscles

Definition:

An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.

Comments:

Reference:

HP:0011957

Genes and Diseases:

Child Nodes:

........

Absence of pectoralis minor muscle (HP:0005255)

........

Unilateral absence of pectoralis major muscle (HP:0005256)

........

Pectoralis major hypoplasia (HP:0008953)

........

Unilateral hypoplasia of pectoralis major muscle (HP:0011959)

........

Pectoralis amyotrophy (HP:0012037)

Sister Nodes:

Hypoplasia of latissimus dorsi muscle (HP:0009026)

Hypoplasia of serratus anterior muscle (HP:0009011)

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:0011957	HP:0011957	Abnormal pectoral muscle morphology	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0011957	HP:0011957	Abnormal pectoral muscle morphology	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0011957	HP:0011957	Abnormal pectoral muscle morphology	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0011957	HP:0011959	Unilateral hypoplasia of pectoralis major muscle	1	CL E G H
HP:0011957	HP:0005256	Unilateral absence of pectoralis major muscle	1	CL E G H
HP:0011957	HP:0012037	Pectoralis amyotrophy	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0011957	HP:0005255	Absence of pectoralis minor muscle	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0011957	HP:0008953	Pectoralis major hypoplasia	1	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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