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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/619941
http://purl.bioontology.org/ontology/OMIM/619941
Preferred Name

CAREY-FINEMAN-ZITER SYNDROME 2
Synonyms
CFZS2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CFZS2
prefLabel
CAREY-FINEMAN-ZITER SYNDROME 2
Gene Symbol
MYMX
CFZS2
notation
619941
Scope Statement
Two unrelated Dutch patients have been reported (last curated June 2022) [MISCELLANEOUS]
Caused by mutation in the myomixer gene (MYMX, 619912.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU051207
http://purl.bioontology.org/ontology/OMIM/MTHU003653
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU075553
http://purl.bioontology.org/ontology/OMIM/MTHU002107
http://purl.bioontology.org/ontology/OMIM/MTHU028198
http://purl.bioontology.org/ontology/OMIM/MTHU051557
http://purl.bioontology.org/ontology/OMIM/MTHU003865
http://purl.bioontology.org/ontology/OMIM/MTHU011660
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU033700
http://purl.bioontology.org/ontology/OMIM/MTHU000335
http://purl.bioontology.org/ontology/OMIM/MTHU009863
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU001747
http://purl.bioontology.org/ontology/OMIM/MTHU013398
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU048348
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
6p21.1
tui
T047
cui
C5677012
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