Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/600002
http://purl.bioontology.org/ontology/OMIM/600002
Preferred Name

EIKEN SYNDROME
Synonyms
EIKEN SKELETAL DYSPLASIA
BONE MODELING DEFECT OF HANDS AND FEET
EKNS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
EIKEN SKELETAL DYSPLASIA
BONE MODELING DEFECT OF HANDS AND FEET
EKNS
prefLabel
EIKEN SYNDROME
Gene Symbol
PFE
PTH1R
PTHR1
PTHR
EKNS
Scope Statement
Ossification of bones improves with age [MISCELLANEOUS]
Caused by mutation in the parathyroid hormone receptor-1 gene (PTHR1, 168468.0009) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU057119
http://purl.bioontology.org/ontology/OMIM/MTHU001946
http://purl.bioontology.org/ontology/OMIM/MTHU057124
http://purl.bioontology.org/ontology/OMIM/MTHU005891
http://purl.bioontology.org/ontology/OMIM/MTHU057122
http://purl.bioontology.org/ontology/OMIM/MTHU057123
http://purl.bioontology.org/ontology/OMIM/MTHU057125
http://purl.bioontology.org/ontology/OMIM/MTHU061664
http://purl.bioontology.org/ontology/OMIM/MTHU057127
http://purl.bioontology.org/ontology/OMIM/MTHU003736
http://purl.bioontology.org/ontology/OMIM/MTHU008581
http://purl.bioontology.org/ontology/OMIM/MTHU057120
http://purl.bioontology.org/ontology/OMIM/MTHU057126
http://purl.bioontology.org/ontology/OMIM/MTHU013097
http://purl.bioontology.org/ontology/OMIM/MTHU057121
http://purl.bioontology.org/ontology/OMIM/MTHU072487
http://purl.bioontology.org/ontology/OMIM/MTHU061663
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tui
T047
T019
Gene Locus
3p22-p21.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
600002
Semantic type UMLS property
Has inheritance type
cui
C1838779
OMIM Entry Type
3
OMIM MimType Value
pound
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