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)

Grandparent Node:
Aplasia/Hypoplasia involving the musculature of the extremities (HP:0009128)

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

Parent Node:
Aplasia/Hypoplasia involving the musculature of the upper limbs (HP:0001467)

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

Term ID:

1464

Name:

Aplasia/Hypoplasia involving the shoulder musculature

Synonym:

Absent/small shoulder muscles; Absent/underdeveloped shoulder muscles

Definition:

Absence or underdevelopment of the muscles of the shoulder.

Comments:

Reference:

HP:0001464

Genes and Diseases:

Child Nodes:

........

Shoulder muscle hypoplasia (HP:0008952)

................... HP:0030241 Hypoplasia of deltoid muscle

........

Shoulder muscle aplasia (HP:0500023)

Sister Nodes:

Aplasia/Hypoplasia involving the musculature of the upper arm (HP:0001468)

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:0001464	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0001464	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0001464	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001464	HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001464	HP:0500023	Shoulder muscle aplasia	1	CL E G H
HP:0001464	HP:0008952	Shoulder muscle hypoplasia	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0001464	HP:0008952	Shoulder muscle hypoplasia	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0001464	HP:0008952	Shoulder muscle hypoplasia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0001464	HP:0008952	Shoulder muscle hypoplasia	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001464	HP:0030241	Hypoplasia of deltoid muscle	2	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.