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

Term ID:

3264

Name:

Deficiency of N-acetylglucosamine-1-phosphotransferase

Synonym:

Definition:

Comments:

Reference:

HP:0003264

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated serum acid phosphatase (HP:0003148)

Granular osmiophilic deposits (GROD) in cells (HP:0003657)

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:0003264	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003264	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240

Genes (1) :GNPTAB

Diseases (2) :OMIM:252500 OMIM:252600

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