Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

KENNY-CAFFEY SYNDROME, TYPE 2

Synonyms

KCS2

ID

http://purl.bioontology.org/ontology/OMIM/127000

altLabel

KCS2

DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA

KENNY SYNDROME

cui

C4316787

C0265291

Gene Locus

11q12.1

Gene Symbol

FAM111A

KIAA1895

GCLEB

KCS2

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

127000

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

KENNY-CAFFEY SYNDROME, TYPE 2

Scope Statement

Caused by mutation in the family with sequence similarity 111, member A gene (FAM111A, 615292.0001) [MOLECULAR BASIS]

tui

T047

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