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bn:01455821n
Noun Concept
Categories: Endocrine, nutritional and metabolic disease stubs, Cholesterol and steroid metabolism disorders
EN
hydrops-ectopic calcification-moth-eaten skeletal dysplasia  GREENBERG DYSPLASIA  Autosomal recessive lethal chondrodystrophy with congenital hydrops  Chondrodystrophy, Hydropic and Prenatally Lethal Type  GRBGD  HEM
EN
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. Wikipedia
Definitions
Relations
Sources
EN
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. Wikipedia
IS A
disease
rare disease
inborn error of metabolism
chondrodysplasia punctata
autosomal recessive disease
GENETIC ASSOCIATION
lamin B receptor
Wikipedia
EN
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Wikidata
EN
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Wikipedia Redirections
EN
Greenberg dysplasia
Wikidata Alias
EN
Autosomal recessive lethal chondrodystrophy with congenital hydrops, Chondrodystrophy, Hydropic and Prenatally Lethal Type, GRBGD, GREENBERG DYSPLASIA, Greenberg dysplasia, GREENBERG DYSPLASIA; GRBGD, Greenberg skeletal dysplasia, HEM, HEM/Greenberg dysplasia, HEM dysplasia, Hem Skeletal Dysplasia, Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia, Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia, Hydrops-ectopic calcification-motheaten syndrome, Moth-Eaten Skeletal Dysplasia, Skeletal dysplasia, Greenberg type

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