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:
Abnormal skeletal muscle morphology (HP:0011805)

Parent Node:
Muscular dystrophy (HP:0003560)

..Starting node
..Scapulohumeral muscular dystrophy (HP:0008970)

Term ID:

8970

Name:

Scapulohumeral muscular dystrophy

Synonym:

Definition:

Comments:

Reference:

HP:0008970

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital muscular dystrophy (HP:0003741)

Late-onset muscular dystrophy (HP:0007081)

Limb-girdle muscular dystrophy (HP:0006785)

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:0008970	HP:0008970	Scapulohumeral muscular dystrophy	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0008970	HP:0008970	Scapulohumeral muscular dystrophy	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174

Genes (2) :FRG1 SMCHD1

Diseases (2) :OMIM:158900 OMIM:158901

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