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 shoulder girdle musculature (HP:0001435)

Parent Node:
Aplasia of the musculature (HP:0100854)

Parent Node:
Pectoral muscle hypoplasia/aplasia (HP:0005258)

..Starting node
..Aplasia of the pectoralis major muscle (HP:0009751)

Term ID:

9751

Name:

Aplasia of the pectoralis major muscle

Synonym:

Absent pectoralis major muscle

Definition:

Absence of the pectoralis major muscle.

Comments:

Reference:

HP:0009751

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pectoralis hypoplasia (HP:0008998)

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:0009751	HP:0009751	Aplasia of the pectoralis major muscle	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0009751	HP:0009751	Aplasia of the pectoralis major muscle	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0009751	HP:0009751	Aplasia of the pectoralis major muscle	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0009751	HP:0009751	Aplasia of the pectoralis major muscle	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent	3
HP:0009751	HP:0009751	Aplasia of the pectoralis major muscle	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0009751	HP:0009751	Aplasia of the pectoralis major muscle	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123

Genes (6) :MYMK MYMX PLXND1 REV3L TBX3 TBX5

Diseases (4) :ORPHA:1358 ORPHA:570 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.