Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

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

Parent Node:
Hypoplasia of the musculature (HP:0009004)

..Starting node
..Shoulder muscle hypoplasia (HP:0008952)

Term ID:

8952

Name:

Shoulder muscle hypoplasia

Synonym:

Underdeveloped shoulder muscle

Definition:

Underdevelopment of muscles of the shoulder.

Comments:

Reference:

HP:0008952

Genes and Diseases:

Child Nodes:

........

Hypoplasia of deltoid muscle (HP:0030241)

Sister Nodes:

Calf muscle hypoplasia (HP:0008962)

Neck muscle hypoplasia (HP:0008984)

Pectoralis hypoplasia (HP:0008998)

Upper limb muscle hypoplasia (HP:0009016)

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:0008952	HP:0008952	Shoulder muscle hypoplasia	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0008952	HP:0008952	Shoulder muscle hypoplasia	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0008952	HP:0008952	Shoulder muscle hypoplasia	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0008952	HP:0008952	Shoulder muscle hypoplasia	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0008952	HP:0030241	Hypoplasia of deltoid muscle	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86

Genes (4) :FLNA MAP3K7 RBM8A SALL4

Diseases (3) :ORPHA:1826 OMIM:274000 OMIM:147750

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.