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ONTOLOGY REPORT - ANNOTATIONS


Term:KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
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Accession:DOID:9000738 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition:An autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. (OMIM)
Synonyms:exact_synonym: KFS4;   Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
 alt_id: RDO:9001622
 replaced_by: DOID:0080592
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