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

..Starting node
..Increased Z-disc width (HP:0033008)

Term ID:

33008

Name:

Increased Z-disc width

Synonym:

Increased Z-disk width; Widened z-discs

Definition:

Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).

Comments:

Reference:

HP:0033008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033008	HP:0033008	Increased Z-disc width	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7	3
HP:0033008	HP:0033008	Increased Z-disc width	0	LMOD2 CL E G H	442721	6648	OMIM:619897

Genes (2) :KY LMOD2

Diseases (2) :OMIM:617114 OMIM:619897

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