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

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

..Starting node
..Amyoplasia (HP:0003634)

Term ID:

3634

Name:

Amyoplasia

Synonym:

Absent muscles since birth; Congenital absence of muscles

Definition:

Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.

Comments:

Reference:

HP:0003634

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the pectoralis major muscle (HP:0009751)

Biceps aplasia (HP:0009783)

Quadriceps aplasia (HP:0009788)

Triceps aplasia (HP:0009785)

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:0003634	HP:0003634	Amyoplasia	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0003634	HP:0003634	Amyoplasia	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0003634	HP:0003634	Amyoplasia	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0003634	HP:0003634	Amyoplasia	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214

Genes (4) :CHRNA1 CHRND CHRNG TRPV4

Diseases (2) :OMIM:253290 OMIM:181405

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