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 cerebral morphology (HP:0002060)

Parent Node:
Cerebral inclusion bodies (HP:0100314)

..Starting node
..Lafora bodies (HP:0100318)

Term ID:

100318

Name:

Lafora bodies

Synonym:

Definition:

An intraneuronal inclusion body composed of acid mucopolysaccharides.

Comments:

Reference:

HP:0100318

Genes and Diseases:

Child Nodes:

Sister Nodes:

Argyrophilic inclusion bodies (HP:0100317)

Cerebral hyaline bodies (HP:0100319)

Hirano bodies (HP:0100316)

Lewy bodies (HP:0100315)

Neurofibrillary tangles (HP:0002185)

Rosenthal fibers (HP:0100320)

Ubiquitin-positive cerebral inclusion bodies (HP:0012083)

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:0100318	HP:0100318	Lafora bodies	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040280 - Obligate	83
HP:0100318	HP:0100318	Lafora bodies	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0100318	HP:0100318	Lafora bodies	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040280 - Obligate	77
HP:0100318	HP:0100318	Lafora bodies	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora		77
HP:0100318	HP:0100318	Lafora bodies	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040281 - Very frequent	1
HP:0100318	HP:0100318	Lafora bodies	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1

Genes (3) :EPM2A NHLRC1 PRDM8

Diseases (4) :ORPHA:501 OMIM:254780 ORPHA:324290 OMIM:616640

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