Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/127000
http://purl.bioontology.org/ontology/OMIM/127000
Preferred Name

KENNY-CAFFEY SYNDROME, TYPE 2
Synonyms
KCS2
DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA
KENNY SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
KCS2
DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA
KENNY SYNDROME
prefLabel
KENNY-CAFFEY SYNDROME, TYPE 2
Gene Symbol
FAM111A
KIAA1895
GCLEB
KCS2
notation
127000
Scope Statement
Caused by mutation in the family with sequence similarity 111, member A gene (FAM111A, 615292.0001) [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/MTHU041231
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU041235
http://purl.bioontology.org/ontology/OMIM/MTHU041233
http://purl.bioontology.org/ontology/OMIM/MTHU036505
http://purl.bioontology.org/ontology/OMIM/MTHU001946
http://purl.bioontology.org/ontology/OMIM/MTHU067118
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU041239
http://purl.bioontology.org/ontology/OMIM/MTHU000565
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU005522
http://purl.bioontology.org/ontology/OMIM/MTHU003184
http://purl.bioontology.org/ontology/OMIM/MTHU041229
http://purl.bioontology.org/ontology/OMIM/MTHU036917
http://purl.bioontology.org/ontology/OMIM/MTHU007182
http://purl.bioontology.org/ontology/OMIM/MTHU041234
http://purl.bioontology.org/ontology/OMIM/MTHU004625
http://purl.bioontology.org/ontology/OMIM/MTHU007700
http://purl.bioontology.org/ontology/OMIM/MTHU017794
http://purl.bioontology.org/ontology/OMIM/MTHU041232
http://purl.bioontology.org/ontology/OMIM/MTHU016610
http://purl.bioontology.org/ontology/OMIM/MTHU012010
http://purl.bioontology.org/ontology/OMIM/MTHU041230
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU002606
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
11q12.1
tui
T047
cui
C4316787
C0265291
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