C0751202 |
Cystathionine beta-Synthase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
2 |
76 |
C0019880 |
Homocystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
2 |
18 |
C3150344 |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
24 |
C4017308 |
HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
|
disease |
|
Finding
|
|
|
1 |
3 |