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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/613823
http://purl.bioontology.org/ontology/OMIM/613823
Preferred Name

SECKEL SYNDROME 5
Synonyms
SCKL5
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SCKL5
prefLabel
SECKEL SYNDROME 5
Gene Symbol
SCKL5
KIAA0912
MCPH9
CEP152
notation
613823
Scope Statement
Caused by mutation in the centrosomal protein, 152kD gene (CEP152, 613529.0003) [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/MTHU007225
http://purl.bioontology.org/ontology/OMIM/MTHU002993
http://purl.bioontology.org/ontology/OMIM/MTHU050591
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU000581
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU000848
http://purl.bioontology.org/ontology/OMIM/MTHU001852
http://purl.bioontology.org/ontology/OMIM/MTHU020345
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU001789
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU036361
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU000090
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU002992
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU002075
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
15q21.1
tui
T047
cui
C3151187
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