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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/617253
http://purl.bioontology.org/ontology/OMIM/617253
Preferred Name

SECKEL SYNDROME 10
Synonyms
SCKL10
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SCKL10
prefLabel
SECKEL SYNDROME 10
Gene Symbol
MMS21
NSE2
NSMCE2
notation
617253
Scope Statement
Caused by mutation in the homolog of S. cerevisiae non-SMC element-2 gene (NSMCE2, 617246.0001) [MOLECULAR BASIS]
Based on report of 2 unrelated patients (last curated December 2016) [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/MTHU056620
http://purl.bioontology.org/ontology/OMIM/MTHU056638
http://purl.bioontology.org/ontology/OMIM/MTHU051129
http://purl.bioontology.org/ontology/OMIM/MTHU003880
http://purl.bioontology.org/ontology/OMIM/MTHU005304
http://purl.bioontology.org/ontology/OMIM/MTHU056640
http://purl.bioontology.org/ontology/OMIM/MTHU009472
http://purl.bioontology.org/ontology/OMIM/MTHU000601
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU056637
http://purl.bioontology.org/ontology/OMIM/MTHU050419
http://purl.bioontology.org/ontology/OMIM/MTHU056628
http://purl.bioontology.org/ontology/OMIM/MTHU056641
http://purl.bioontology.org/ontology/OMIM/MTHU056636
http://purl.bioontology.org/ontology/OMIM/MTHU008519
http://purl.bioontology.org/ontology/OMIM/MTHU050418
http://purl.bioontology.org/ontology/OMIM/MTHU070347
http://purl.bioontology.org/ontology/OMIM/MTHU038277
http://purl.bioontology.org/ontology/OMIM/MTHU070348
http://purl.bioontology.org/ontology/OMIM/MTHU056627
http://purl.bioontology.org/ontology/OMIM/MTHU030302
http://purl.bioontology.org/ontology/OMIM/MTHU002092
http://purl.bioontology.org/ontology/OMIM/MTHU007070
http://purl.bioontology.org/ontology/OMIM/MTHU056622
http://purl.bioontology.org/ontology/OMIM/MTHU056621
http://purl.bioontology.org/ontology/OMIM/MTHU056626
http://purl.bioontology.org/ontology/OMIM/MTHU070349
http://purl.bioontology.org/ontology/OMIM/MTHU056643
http://purl.bioontology.org/ontology/OMIM/MTHU069683
http://purl.bioontology.org/ontology/OMIM/MTHU002068
http://purl.bioontology.org/ontology/OMIM/MTHU056650
http://purl.bioontology.org/ontology/OMIM/MTHU070346
http://purl.bioontology.org/ontology/OMIM/MTHU056639
http://purl.bioontology.org/ontology/OMIM/MTHU038007
http://purl.bioontology.org/ontology/OMIM/MTHU056642
http://purl.bioontology.org/ontology/OMIM/MTHU004922
http://purl.bioontology.org/ontology/OMIM/MTHU056625
http://purl.bioontology.org/ontology/OMIM/MTHU056623
http://purl.bioontology.org/ontology/OMIM/MTHU070345
http://purl.bioontology.org/ontology/OMIM/MTHU005298
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
8q24.13
tui
T047
cui
C4310647
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