Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Severe Congenital Neutropenia (SCN) due to CXCR2 Deficiency
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a very rare, ...
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Autosomal Recessive Secondary Polycythemia, Non-Chuvash Type
Autosomal recessive secondary polycythemia, non-Chuvash type, is a rare, inherited ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Secondary Erythrocytosis, Non-Chuvash Type
Autosomal recessive secondary erythrocytosis, non-Chuvash type means the number of red ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Secondary Polycythemia not Associated with VHL (Von Hippel–Lindau)
Autosomal recessive secondary polycythemia is a rare group of conditions where the body ...
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Osteopetrosis-Hypogammaglobulinemia Syndrome
Osteopetrosis-hypogammaglobulinemia syndrome is a rare, inherited condition in which ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Escobar Variant Multiple Pterygium Syndrome
Escobar variant multiple pterygium syndrome is a rare, inherited condition that starts ...
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N (LGMD2N)
Autosomal recessive limb-girdle muscular dystrophy type 2N is a rare, inherited muscle ...
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Anoctamin-5–Related Limb-Girdle Muscular Dystrophy R12 (LGMDR12)
Anoctamin-5–related limb-girdle muscular dystrophy R12 (LGMDR12) is a genetic muscle ...
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ANO5-Related Limb-Girdle Muscular Dystrophy
ANO5-related limb-girdle muscular dystrophy is a genetic muscle disease. It happens when ...
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Titin-Related Limb-Girdle Muscular Dystrophy R10 (LGMDR10, TTN-related)
Titin-Related Limb-Girdle Muscular Dystrophy R10 (LGMDR10, TTN-related) is a rare, ...
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Telethoninopathy
Telethoninopathy is a rare inherited muscle disease caused by harmful changes (pathogenic ...
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Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency is a rare, inherited ...
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Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency
Limb-girdle muscular dystrophy from beta-sarcoglycan (SGCB) deficiency is a genetic ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E (LGMD2E)
Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E), now called LGMDR4 ...
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Limb-Girdle Muscular Dystrophy due to Alpha-Sarcoglycan Deficiency
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency is a genetic muscle ...
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Sarcoglycanopathies
Sarcoglycanopathies are a group of inherited muscle diseases that mainly weaken the ...
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Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
Duchenne-like autosomal recessive muscular dystrophy type 2 is a genetic muscle disorder. ...
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Alpha-sarcoglycanopathy
Alpha-sarcoglycanopathy is a rare, inherited muscle-wasting disease caused by biallelic ...
