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Disease Ontology Browser
Klippel-Feil syndrome (DOID:10426)
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Synonyms: autosomal dominant Klippel-Feil syndrome; congenital dystrophia brevicollis; congenital synostosis of cervical vertebrae; Klippel-Feil and Turner syndrome; Klippel-Feil deformity, deafness and facial asymmetry
Alt IDs: DOID:14747, ICD10CM:Q76.1, ICD9CM:756.16, MESH:D007714, NCI:C98967, OMIM:PS118100, ORDO:2345, UMLS_CUI:C0022738
Definition: A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.


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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory