Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CAFFEY DISEASE
Synonyms

CAFYD

INFANTILE CORTICAL HYPEROSTOSIS
ID

http://purl.bioontology.org/ontology/OMIM/114000
altLabel

CAFYD

INFANTILE CORTICAL HYPEROSTOSIS
cui

C0020497
Gene Locus

17q21.31-q22
Gene Symbol

OI2

COL1A1

OI4

OI1

OI3

EDSARTH1

CAFYD
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

114000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CAFFEY DISEASE
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D006958 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10073206 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10073208 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10073206 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10073208 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/M89.8 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/24752008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D006958 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001601 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D1-61140 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/24752008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073208 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/PG57. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10073206 MEDDRA CUI
http://purl.obolibrary.org/obo/DOID_4257 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007244 MONDO LOOM
http://www.radlex.org/RID/RID29063 RADLEX LOOM
rgo:19251 GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIM_114000 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_431 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_1310 ORDO LOOM
http://identifiers.org/omim/114000 REXO LOOM
http://identifiers.org/omim/114000 GEXO LOOM
http://identifiers.org/omim/114000 RETO LOOM
http://purl.obolibrary.org/obo/DOID_4257 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4257 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4257 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4257 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4257 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4257 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0007244 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007244 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007244 DOVES LOOM