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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/617435
http://purl.bioontology.org/ontology/OMIM/617435
Preferred Name

LOPES-MACIEL-RODAN SYNDROME
Synonyms
LOMARS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LOMARS
prefLabel
LOPES-MACIEL-RODAN SYNDROME
Gene Symbol
IT15
HD
HTT
LOMARS
notation
617435
Scope Statement
Four patients from 2 unrelated families have been reported (last curated April 2017) [MISCELLANEOUS]
Caused by mutation in the huntingtin gene (HTT, 613004.0002) [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/MTHU004656
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU045039
http://purl.bioontology.org/ontology/OMIM/MTHU044671
http://purl.bioontology.org/ontology/OMIM/MTHU006931
http://purl.bioontology.org/ontology/OMIM/MTHU040907
http://purl.bioontology.org/ontology/OMIM/MTHU058005
http://purl.bioontology.org/ontology/OMIM/MTHU058004
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU033932
http://purl.bioontology.org/ontology/OMIM/MTHU000765
http://purl.bioontology.org/ontology/OMIM/MTHU003105
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU003762
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU058006
http://purl.bioontology.org/ontology/OMIM/MTHU058008
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU001896
http://purl.bioontology.org/ontology/OMIM/MTHU006935
http://purl.bioontology.org/ontology/OMIM/MTHU000870
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU003269
http://purl.bioontology.org/ontology/OMIM/MTHU001219
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU001753
http://purl.bioontology.org/ontology/OMIM/MTHU057024
http://purl.bioontology.org/ontology/OMIM/MTHU004659
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
4p16.3
tui
T047
cui
C4479491
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