Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Body Skin Hyperlaxity due to Vitamin K-Dependent Coagulation Factor Deficiency
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Congenital Telangiectatic Erythema
Congenital telangiectatic erythema is an inherited disorder that starts at birth and ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Bloom Syndrome
Bloom syndrome is a very rare inherited condition that makes a person’s DNA less stable ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Bleeding Diathesis due to Thromboxane Synthesis Deficiency.
Bleeding diathesis due to thromboxane synthesis deficiency is a rare bleeding problem. It ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Granulomatosis
Granulomatosis means “a body condition where many granulomas form.”A granuloma is a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
KCNK9 (Potassium Two-Pore Domain Channel, Subfamily K, Member 9) Imprinting Syndrome
KCNK9 (potassium two-pore domain channel, subfamily K, member 9) imprinting syndrome is a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome
Intellectual disability–hypotonia–facial dysmorphism syndrome is an umbrella description ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Birk-Barel Type Intellectual Disability
Birk-Barel type intellectual disability is a very rare genetic neurodevelopmental ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Birk-Barel Intellectual Disability Dysmorphism Syndrome
Birk-Barel intellectual disability dysmorphism syndrome is a very rare genetic condition. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Microcephalic Primordial Dwarfism, Montreal Type
Microcephalic primordial dwarfism, Montreal type is an extremely rare genetic condition. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Bird-Headed Dwarfism, Montreal Type
Bird-headed dwarfism, Montreal type is an extremely rare, multi-system genetic disorder ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
late-Onset Multiple Carboxylase Deficiency (MCD)
Late-onset multiple carboxylase deficiency is a rare, inherited problem of biotin ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Juvenile-Onset Multiple Carboxylase Deficiency (MCD)
Juvenile-onset multiple carboxylase deficiency (MCD) is an umbrella term for problems in ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Biotinidase Deficiency
Biotinidase deficiency is a genetic condition that stops the body from recycling biotin, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Thiamine-Responsive Encephalopathy
Thiamine-responsive encephalopathy is a brain disorder where a shortage of usable ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Thiamine Transporter-2 Deficiency
Thiamine transporter-2 deficiency is a rare, inherited brain-energy disorder. It happens ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Biotin- or Thiamine-Responsive Encephalopathy Type 2
Biotin- or Thiamine-Responsive Encephalopathy Type 2 (THMD2) is a rare, inherited brain ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Thiamine Metabolism Dysfunction Syndrome 2 (TMDS2)
Thiamine Metabolism Dysfunction Syndrome 2 (TMDS2) is a rare, inherited brain energy ...
