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Symbol
Name
ID

Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
MGI:107940

Phenotype annotations related to skeleton

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

Human Phenotypes

Flat occiput

Mandibular prognathia

Retrognathia

Macrocephaly

Broad thumb

Prominent fingertip pads

Radial deviation of finger

Toe clinodactyly

Overlapping toe

Clinodactyly

Abnormal femoral metaphysis morphology

Wide distal femoral metaphysis

Flared femoral metaphysis

Coxa valga

Short fourth metatarsal

Metatarsus adductus

Abnormal tibial metaphysis morphology

Calcaneovalgus deformity

Abnormal metaphysis morphology

Flared humeral metaphysis

Limited knee extension

Joint contracture of the hand

Limited elbow extension

Joint swelling

Camptodactyly

Accelerated skeletal maturation

Dysharmonic skeletal maturation

Pathologic fracture

Hypoplastic iliac wing

Short ribs

Kyphosis

Scoliosis

Osteolysis

Osteosarcoma

Disease(s) Associated with EZH2

osteosarcoma

Weaver syndrome

Mouse Phenotypes		skeleton phenotype	abnormal osteoblast physiology	increased femur compact bone thickness	increased internal diameter of femur	increased sacral vertebrae number
Availability	Mouse Genotype	skeleton phenotype	abnormal osteoblast physiology	increased femur compact bone thickness	increased internal diameter of femur	increased sacral vertebrae number
	Ezh2^em1Jiaf/Ezh2⁺	*
	Ezh2^{tm1a(EUCOMM)Wtsi}/Ezh2⁺

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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