Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency

Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency is a rare, inherited ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Gamma Sarcoglycanopathy

Gamma-sarcoglycanopathy is a genetic muscle disease caused by harmful changes (variants) ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Young-Onset Parkinson Disease Caused by Mutation in Prkn

Young-onset PRKN-parkinsonism is a form of Parkinson’s disease (PD) that starts at a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

PRKN (Parkin) Young-Onset Parkinson Disease

PRKN young-onset Parkinson disease is a form of Parkinson’s that usually starts before ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Parkin Type of Early-Onset Parkinson Disease

Parkin type of early-onset Parkinson disease is a form of Parkinson’s that happens when ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Juvenile Parkinson Disease 2

Autosomal recessive juvenile Parkinson disease 2 is a genetic type of Parkinson’s disease ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Infantile Onset Hypercalcemia Disease

Infantile-onset hypercalcemia is a rare condition where babies and young children have ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Hypercalcemia Disease of Infancy

Hypercalcemia means there is too much calcium in the blood. In infants, this is dangerous ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Infantile Hypercalcemia (ARIH

Autosomal recessive infantile hypercalcemia is a rare genetic disease that makes blood ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Hereditary Hypophosphatemic Rickets (ARHR)

Autosomal recessive hereditary hypophosphatemic rickets (ARHR) is a rare, inherited bone ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Hypophosphatemic Vitamin-D-Refractory Rickets (ARHR)

Autosomal recessive hypophosphatemic vitamin-D-refractory rickets (ARHR) is a rare ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Hypophosphatemic Rickets with Hypercalciuria (HHRH)

Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, inherited bone and kidney ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Hypercalciuric Hypophosphatemic Rickets (HHRH)

Hypercalciuric hypophosphatemic rickets (HHRH) is a rare inherited disorder where the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH)

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, inherited ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to SUR1 Deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency is a rare, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency is a genetic condition where ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Frontotemporal Pachygyria

Autosomal recessive frontotemporal pachygyria is a rare brain-development condition. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Recessive Epidermolytic Ichthyosis (AREI)

Autosomal recessive epidermolytic ichthyosis (AREI) is a very rare inherited skin ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

PINK1 Type of Young-Onset Parkinson Disease (PINK1-YOPD)

PINK1 type of young-onset Parkinson disease is a genetic form of Parkinson disease that ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Parkinson’s Disease Caused by PINK1 Mutation (PINK1-PD)

Parkinson’s disease caused by PINK1 mutation (PINK1-PD) is a genetic form of Parkinson’s ...
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