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HBM
MCID: BNM016
MIFTS: 20
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Bone Mineral Density Quantitative Trait Locus 1 (HBM)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Bone Mineral Density Quantitative Trait Locus 1:
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
allelic to osteoporosis-pseudoglioma syndrome , van buchem type 2 , autosomal dominant osteosclerosis , type i osteopetrosis HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases |
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UniProtKB/Swiss-Prot
:
76
High bone mass trait: Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings.
MalaCards based summary : Bone Mineral Density Quantitative Trait Locus 1, also known as high bone mass trait, is related to heart and brain malformation syndrome and neuroblastoma. An important gene associated with Bone Mineral Density Quantitative Trait Locus 1 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone, and related phenotypes are abnormality of the vertebral column and increased spinal bone density
Description from OMIM:
601884
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Human phenotypes related to Bone Mineral Density Quantitative Trait Locus 1:33
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MalaCards organs/tissues related to Bone Mineral Density Quantitative Trait Locus 1:42
Bone
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Articles related to Bone Mineral Density Quantitative Trait Locus 1:
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Genes related to Bone Mineral Density Quantitative Trait Locus 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Bone Mineral Density Quantitative Trait Locus 1:76
ClinVar genetic disease variations for Bone Mineral Density Quantitative Trait Locus 1:6
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Search
GEO
for disease gene expression data for Bone Mineral Density Quantitative Trait Locus 1.
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