Osteoporosis (Phenotype)

Synonyms:HP:0002774

Id:HP:0000939

Description:Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).

Results found

Linked to

	Label	Description
	SATB2 Gene (Entity type)	ENSG00000119042 - SATB homeobox 2
	CLCA4 Gene (Entity type)	ENSG00000016602 - chloride channel accessory 4
	HLA-DQB1 Gene (Entity type)	ENSG00000231939 - major histocompatibility complex, class II, DQ beta 1 [Source:HGNC Symbol;Acc:HGNC:4944]
	PMM2 Gene (Entity type)	ENSG00000140650 - phosphomannomutase 2
	IGKV6-21 Gene (Entity type)	ENSG00000282210 - immunoglobulin kappa variable 6-21 (non-functional) [Source:HGNC Symbol;Acc:HGNC:5836]
	HLA-DQA2 Gene (Entity type)	ENSG00000223793 - major histocompatibility complex, class II, DQ alpha 2 [Source:HGNC Symbol;Acc:HGNC:4943]
	HERC2 Gene (Entity type)	ENSG00000277278 - HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]
	AP5M1 Gene (Entity type)	ENSG00000053770 - adaptor related protein complex 5 subunit mu 1
	POU1F1 Gene (Entity type)	ENSG00000064835 - POU class 1 homeobox 1
	HERC2 Gene (Entity type)	ENSG00000276802 - HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]

SATB2

Gene (Entity type)

ENSG00000119042 - SATB homeobox 2

CLCA4

Gene (Entity type)

ENSG00000016602 - chloride channel accessory 4

HLA-DQB1

Gene (Entity type)

ENSG00000231939 - major histocompatibility complex, class II, DQ beta 1 [Source:HGNC Symbol;Acc:HGNC:4944]

PMM2

Gene (Entity type)

ENSG00000140650 - phosphomannomutase 2

IGKV6-21

Gene (Entity type)

ENSG00000282210 - immunoglobulin kappa variable 6-21 (non-functional) [Source:HGNC Symbol;Acc:HGNC:5836]

HLA-DQA2

Gene (Entity type)

ENSG00000223793 - major histocompatibility complex, class II, DQ alpha 2 [Source:HGNC Symbol;Acc:HGNC:4943]

HERC2

Gene (Entity type)

ENSG00000277278 - HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]

AP5M1

Gene (Entity type)

ENSG00000053770 - adaptor related protein complex 5 subunit mu 1

POU1F1

Gene (Entity type)

ENSG00000064835 - POU class 1 homeobox 1

HERC2

Gene (Entity type)

ENSG00000276802 - HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.