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 cellular physiology (HP:0011017)

Parent Node:
Abnormality of lysosomal metabolism (HP:0004356)

..Starting node
..Granular osmiophilic deposits (GROD) in cells (HP:0003657)

Term ID:

3657

Name:

Granular osmiophilic deposits (GROD) in cells

Synonym:

Definition:

Comments:

Reference:

HP:0003657

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deficiency of N-acetylglucosamine-1-phosphotransferase (HP:0003264)

Elevated serum acid phosphatase (HP:0003148)

Lipogranulomatosis (HP:0040139)

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:0003657	HP:0003657	Granular osmiophilic deposits (GROD) in cells	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0003657	HP:0003657	Granular osmiophilic deposits (GROD) in cells	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040281 - Very frequent	111
HP:0003657	HP:0003657	Granular osmiophilic deposits (GROD) in cells	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0003657	HP:0003657	Granular osmiophilic deposits (GROD) in cells	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0003657	HP:0003657	Granular osmiophilic deposits (GROD) in cells	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144

Genes (5) :CLN6 CLN8 CTSD DNAJC5 NOTCH3

Diseases (5) :OMIM:204300 ORPHA:1947 OMIM:610127 OMIM:162350 OMIM:125310

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