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MCID: BCL019
MIFTS: 13
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B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome
Categories:
Blood diseases, Bone diseases, Fetal diseases, Immune diseases, Rare diseases
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Aliases & Classifications for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation...
MalaCards integrated aliases for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:
Name: B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome
58
Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Bone diseases Blood diseases Immune diseases
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases External Ids:
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MalaCards based summary :
B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome, also known as hoffman syndrome, is related to b-cell immunodeficiency, distal limb anomalies, and urogenital malformations and agammaglobulinemia, x-linked. An important gene associated with B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome is TOP2B (DNA Topoisomerase II Beta). Affiliated tissues include b cells, bone and spinal cord.
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Diseases related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(showing 8, show less)
Graphical network of the top 20 diseases related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:
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MalaCards organs/tissues related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:40
B Cells,
Bone,
Spinal Cord
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Articles related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome:(showing 11, show less)
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Genes related to B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome.
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