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MONDO:0013299
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🇬🇧 en
chromosome 6q11-q14 deletion syndrome
http://purl.obolibrary.org/obo/MONDO_0013299
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Also appears in
pride
efo
Exact Synonyms
chromosome 6q11-q14 deletion syndrome, isolated cases
chromosome 6q11-q14 deletion syndrome
Related Synonyms
chromosome 6Q13-q14 deletion syndrome
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disease
(25,469)
human disease
(22,633)
chromosomal disorder
(581)
autosomal anomaly
(440)
chromosome 6 disorder
(19)
partial deletion of chromosome 6
(9)
partial deletion of the long arm of chromosome 6
(5)
chromosome 6q11-q14 deletion syndrome
syndrome caused by partial chromosomal deletion
(239)
partial deletion of chromosome 6
(9)
partial deletion of the long arm of chromosome 6
(5)
chromosome 6q11-q14 deletion syndrome
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class Information
Conforms To
http://purl.obolibrary.org/obo/mondo/patterns/chromosomal_region_deletion.yaml
has exact match
http://identifiers.org/medgen/462140
http://linkedlifedata.com/resource/umls/id/C3150790
chromosome 6q11-q14 deletion syndrome
doid
https://omim.org/entry/613544
has_dbxref
chromosome 6q11-q14 deletion syndrome
doid
MEDGEN:462140
OMIM:613544
UMLS:C3150790
in_subset
nord_rare
gard_rare
rare
term tracker item
https://github.com/monarch-initiative/mondo/issues/3664
https://github.com/monarch-initiative/mondo/issues/4521
class Relations
Equivalent to
(
syndrome caused by partial chromosomal deletion
and
disease arises from alteration in structure
ro
some
6q11-q14 (Human)
)
Subclass of
partial deletion of the long arm of chromosome 6
disease arises from alteration in structure
ro
some
6q11-q14 (Human)