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 of the upper limbs (HP:0001446)

Parent Node:
Abnormality of the shoulder girdle musculature (HP:0001435)

..Starting node
..Pectoral muscle hypoplasia/aplasia (HP:0005258)

Term ID:

5258

Name:

Pectoral muscle hypoplasia/aplasia

Synonym:

Small/absent pec muscle; Underdeveloped/absent pec muscle

Definition:

Comments:

Reference:

HP:0005258

Genes and Diseases:

Child Nodes:

........

Pectoralis hypoplasia (HP:0008998)

........

Aplasia of the pectoralis major muscle (HP:0009751)

Sister Nodes:

Amyotrophy involving the shoulder musculature (HP:0001465)

Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464)

Scapular winging (HP:0003691)

Shoulder girdle muscle weakness (HP:0003547)

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:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0005258	HP:0005258	Pectoral muscle hypoplasia/aplasia	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0005258	HP:0008998	Pectoralis hypoplasia	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0005258	HP:0009751	Aplasia of the pectoralis major muscle	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0005258	HP:0009751	Aplasia of the pectoralis major muscle	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0005258	HP:0009751	Aplasia of the pectoralis major muscle	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0005258	HP:0009751	Aplasia of the pectoralis major muscle	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent	3
HP:0005258	HP:0008998	Pectoralis hypoplasia	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0005258	HP:0009751	Aplasia of the pectoralis major muscle	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0005258	HP:0009751	Aplasia of the pectoralis major muscle	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123

Genes (9) :ALX1 ALX3 MYMK MYMX PLXND1 REV3L SALL4 TBX3 TBX5

Diseases (8) :ORPHA:306542 OMIM:136760 ORPHA:1358 OMIM:254940 ORPHA:570 OMIM:607323 ORPHA:3138 OMIM:142900

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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