Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/156400
http://purl.bioontology.org/ontology/OMIM/156400
Preferred Name

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
Synonyms
METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
MCDJ
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
MCDJ
prefLabel
METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
Gene Symbol
PFE
PTH1R
PTHR1
PTHR
EKNS
Scope Statement
Waddling gait [MISCELLANEOUS]
Caused by mutations in the parathyoid hormone receptor 1 gene (PTHR1, 168468.0001) [MOLECULAR BASIS]
Majority of cases are sporadic [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU017223
http://purl.bioontology.org/ontology/OMIM/MTHU017219
http://purl.bioontology.org/ontology/OMIM/MTHU036927
http://purl.bioontology.org/ontology/OMIM/MTHU017217
http://purl.bioontology.org/ontology/OMIM/MTHU010212
http://purl.bioontology.org/ontology/OMIM/MTHU010336
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU005829
http://purl.bioontology.org/ontology/OMIM/MTHU017224
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU002029
http://purl.bioontology.org/ontology/OMIM/MTHU017222
http://purl.bioontology.org/ontology/OMIM/MTHU003499
http://purl.bioontology.org/ontology/OMIM/MTHU000596
http://purl.bioontology.org/ontology/OMIM/MTHU017215
http://purl.bioontology.org/ontology/OMIM/MTHU017213
http://purl.bioontology.org/ontology/OMIM/MTHU006653
http://purl.bioontology.org/ontology/OMIM/MTHU000560
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU036653
http://purl.bioontology.org/ontology/OMIM/MTHU017221
http://purl.bioontology.org/ontology/OMIM/MTHU017209
http://purl.bioontology.org/ontology/OMIM/MTHU017216
http://purl.bioontology.org/ontology/OMIM/MTHU002823
http://purl.bioontology.org/ontology/OMIM/MTHU017211
http://purl.bioontology.org/ontology/OMIM/MTHU008654
http://purl.bioontology.org/ontology/OMIM/MTHU017220
http://purl.bioontology.org/ontology/OMIM/MTHU007020
http://purl.bioontology.org/ontology/OMIM/MTHU005834
http://purl.bioontology.org/ontology/OMIM/MTHU017212
http://purl.bioontology.org/ontology/OMIM/MTHU017210
http://purl.bioontology.org/ontology/OMIM/MTHU036717
http://purl.bioontology.org/ontology/OMIM/MTHU017214
http://purl.bioontology.org/ontology/OMIM/MTHU017218
http://purl.bioontology.org/ontology/OMIM/MTHU005316
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tui
T047
Gene Locus
3p22-p21.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
156400
Semantic type UMLS property
Has inheritance type
cui
C0265295
OMIM Entry Type
3
OMIM MimType Value
pound
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