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Symbol
Name
ID

Hgd
homogentisate 1, 2-dioxygenase
MGI:96078

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Thickened Achilles tendon

Limitation of knee mobility

Joint swelling

Aortic valve calcification

Mitral valve calcification

Coronary artery calcification

Limited shoulder movement

Joint stiffness

Limited hip movement

Vertebral fusion

Increased susceptibility to fractures

Kyphosis

Scoliosis

Intervertebral disk calcification

Intervertebral disk degeneration

Back pain

Low back pain

Reduced bone mineral density

Calcification of cartilage

Cartilage destruction

Arthritis

Osteoarthritis

Arthropathy

Joint dislocation

Tendon rupture

Disease(s) Associated with HGD

alkaptonuria

Mouse Phenotypes		skeleton phenotype	abnormal articular cartilage morphology
Availability	Mouse Genotype	skeleton phenotype	abnormal articular cartilage morphology
	Hgd^aku/Hgd^aku	*
	Hgd^{tm1a(KOMP)Wtsi}/Hgd^{tm1a(KOMP)Wtsi}
	Hgd^{tm1c(KOMP)Wtsi}/Hgd^{tm1c(KOMP)Wtsi} Tg(Mx1-cre)1Cgn/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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