Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/215140
http://purl.bioontology.org/ontology/OMIM/215140
Preferred Name

GREENBERG DYSPLASIA
Synonyms
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
HEM SKELETAL DYSPLASIA
GRBGD
MOTH-EATEN SKELETAL DYSPLASIA
CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
HEM SKELETAL DYSPLASIA
GRBGD
MOTH-EATEN SKELETAL DYSPLASIA
CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE
prefLabel
GREENBERG DYSPLASIA
Gene Symbol
LBR
PHASK
PHA
Scope Statement
Caused by mutation in the lamin B receptor (LBR, 600024.0003) [MOLECULAR BASIS]
Fetal death [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU013860
http://purl.bioontology.org/ontology/OMIM/MTHU007225
http://purl.bioontology.org/ontology/OMIM/MTHU041796
http://purl.bioontology.org/ontology/OMIM/MTHU013859
http://purl.bioontology.org/ontology/OMIM/MTHU041797
http://purl.bioontology.org/ontology/OMIM/MTHU013857
http://purl.bioontology.org/ontology/OMIM/MTHU002514
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU013864
http://purl.bioontology.org/ontology/OMIM/MTHU009434
http://purl.bioontology.org/ontology/OMIM/MTHU041802
http://purl.bioontology.org/ontology/OMIM/MTHU041800
http://purl.bioontology.org/ontology/OMIM/MTHU041803
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU041801
http://purl.bioontology.org/ontology/OMIM/MTHU013861
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU009541
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU013858
http://purl.bioontology.org/ontology/OMIM/MTHU002784
http://purl.bioontology.org/ontology/OMIM/MTHU041798
http://purl.bioontology.org/ontology/OMIM/MTHU041799
http://purl.bioontology.org/ontology/OMIM/MTHU013384
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU013854
http://purl.bioontology.org/ontology/OMIM/MTHU012198
http://purl.bioontology.org/ontology/OMIM/MTHU005513
http://purl.bioontology.org/ontology/OMIM/MTHU013853
http://purl.bioontology.org/ontology/OMIM/MTHU009218
http://purl.bioontology.org/ontology/OMIM/MTHU013863
http://purl.bioontology.org/ontology/OMIM/MTHU007984
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tui
T047
Gene Locus
1q42.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
215140
Semantic type UMLS property
Has inheritance type
cui
C2931048
OMIM Entry Type
3
OMIM MimType Value
pound
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