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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/620609
http://purl.bioontology.org/ontology/OMIM/620609
Preferred Name

LONG-OLSEN-DISTELMAIER SYNDROME
Synonyms
LNGODS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LNGODS
prefLabel
LONG-OLSEN-DISTELMAIER SYNDROME
Gene Symbol
LNGODS
RAGC
RRAGC
notation
620609
Scope Statement
Caused by mutation in the RAS-related GTP-binding protein C gene (RRAGC, 608267.0001) [MOLECULAR BASIS]
Death in infancy [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU036336
http://purl.bioontology.org/ontology/OMIM/MTHU009472
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU002870
http://purl.bioontology.org/ontology/OMIM/MTHU001652
http://purl.bioontology.org/ontology/OMIM/MTHU037728
http://purl.bioontology.org/ontology/OMIM/MTHU021759
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU015990
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU037147
http://purl.bioontology.org/ontology/OMIM/MTHU058725
http://purl.bioontology.org/ontology/OMIM/MTHU071757
http://purl.bioontology.org/ontology/OMIM/MTHU006360
http://purl.bioontology.org/ontology/OMIM/MTHU007909
http://purl.bioontology.org/ontology/OMIM/MTHU022224
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU036913
http://purl.bioontology.org/ontology/OMIM/MTHU013529
http://purl.bioontology.org/ontology/OMIM/MTHU036521
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
1p34
tui
T047
cui
C5882721
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