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
..Elevated serum acid phosphatase (HP:0003148)

Term ID:

3148

Name:

Elevated serum acid phosphatase

Synonym:

Acid phosphatase elevated; Elevated serum acid phosphatase

Definition:

Comments:

Reference:

HP:0003148

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0003148	HP:0003148	Elevated serum acid phosphatase	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0003148	HP:0003148	Elevated serum acid phosphatase	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0003148	HP:0003148	Elevated serum acid phosphatase	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0003148	HP:0003148	Elevated serum acid phosphatase	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0003148	HP:0003148	Elevated serum acid phosphatase	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0003148	HP:0003148	Elevated serum acid phosphatase	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44

Genes (5) :CA2 CLCN7 OCRL PSAP TNFRSF11B

Diseases (6) :ORPHA:2785 OMIM:259730 OMIM:166600 OMIM:309000 OMIM:610539 OMIM:239000

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