C0020435 |
Hyperbilirubinemia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
8 |
C0020500 |
Hyperoxaluria
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
5 |
C0162533 |
Porphyrias, Hepatic
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
5 |
C0085547 |
Phenylketonuria, Maternal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
4 |
C0016952 |
Galactosemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
3 |
C0031485 |
Phenylketonurias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
3 |
C0348454 |
Other hypoparathyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
3 |
C3715128 |
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
3 |
C4048195 |
Autosomal dominant hypocalcemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
3 |
C4552089 |
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
3 |
C0022350 |
Jaundice, Chronic Idiopathic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
2 |
C0023794 |
Lipoidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
2 |
C0026709 |
Mucopolysaccharidosis VI
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
2 |
C0029591 |
Other disorders of lipoid metabolism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
2 |
C0220994 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
2 |
C0010324 |
Crigler Najjar syndrome, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0012715 |
Iron Metabolism Disorders
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0017919 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0017920 |
Glycogen Storage Disease Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0018995 |
Hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0020445 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0032708 |
Disorders of Porphyrin Metabolism
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0034345 |
Pyruvate Dehydrogenase Complex Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0043325 |
Xanthomatosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the integument
|
1 |
C0085078 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |