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Symbol
Name
ID

Col11a2
collagen, type XI, alpha 2
MGI:88447

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes	Frontal bossing	Micrognathia	Malar flattening	Midface retrusion	Cleft palate	Pierre-Robin sequence	Anteverted nares	Bulbous nose	Depressed nasal bridge	Short nose	Prominent supraorbital ridges
Disease(s) Associated with COL11A2	Frontal bossing	Micrognathia	Malar flattening	Midface retrusion	Cleft palate	Pierre-Robin sequence	Anteverted nares	Bulbous nose	Depressed nasal bridge	Short nose	Prominent supraorbital ridges
fibrochondrogenesis 2
otospondylomegaepiphyseal dysplasia, autosomal dominant
otospondylomegaepiphyseal dysplasia, autosomal recessive

Mouse Phenotypes		abnormal cranium morphology	abnormal nasal bone morphology	triangular face	prominent forehead	short snout
Availability	Mouse Genotype
	Col11a2^tm1Mne/Col11a2^tm1Mne

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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