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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/200110
http://purl.bioontology.org/ontology/OMIM/200110
Preferred Name

ABLEPHARON-MACROSTOMIA SYNDROME
Synonyms
AMS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AMS
prefLabel
ABLEPHARON-MACROSTOMIA SYNDROME
Gene Symbol
DERMO1
AMS
BBRSAY
FFDD3
SETLSS
TWIST2
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notation
200110
Scope Statement
Overlapping features with Barber-Say syndrome (209885) [MISCELLANEOUS]
Caused by mutation in the twist family bHLH transcription factor 2 gene (TWIST2, 607556.0004) [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/MTHU067448
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU001050
http://purl.bioontology.org/ontology/OMIM/MTHU027600
http://purl.bioontology.org/ontology/OMIM/MTHU027595
http://purl.bioontology.org/ontology/OMIM/MTHU000830
http://purl.bioontology.org/ontology/OMIM/MTHU027596
http://purl.bioontology.org/ontology/OMIM/MTHU027591
http://purl.bioontology.org/ontology/OMIM/MTHU009222
http://purl.bioontology.org/ontology/OMIM/MTHU067450
http://purl.bioontology.org/ontology/OMIM/MTHU067449
http://purl.bioontology.org/ontology/OMIM/MTHU006867
http://purl.bioontology.org/ontology/OMIM/MTHU027593
http://purl.bioontology.org/ontology/OMIM/MTHU067445
http://purl.bioontology.org/ontology/OMIM/MTHU067451
http://purl.bioontology.org/ontology/OMIM/MTHU027598
http://purl.bioontology.org/ontology/OMIM/MTHU027594
http://purl.bioontology.org/ontology/OMIM/MTHU027601
http://purl.bioontology.org/ontology/OMIM/MTHU037208
http://purl.bioontology.org/ontology/OMIM/MTHU027602
http://purl.bioontology.org/ontology/OMIM/MTHU067447
http://purl.bioontology.org/ontology/OMIM/MTHU027599
http://purl.bioontology.org/ontology/OMIM/MTHU027597
http://purl.bioontology.org/ontology/OMIM/MTHU037211
http://purl.bioontology.org/ontology/OMIM/MTHU027590
http://purl.bioontology.org/ontology/OMIM/MTHU067446
http://purl.bioontology.org/ontology/OMIM/MTHU059400
http://purl.bioontology.org/ontology/OMIM/MTHU037210
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
2q37.3
tui
T047
cui
C1860224
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