C1857252 |
2,4-Dienoyl-CoA Reductase Deficiency
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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Disease or Syndrome
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1 |
C3266731 |
2-methyl-3-hydroxybutyric aciduria
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phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of mental health
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|
1 |
C1864912 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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Disease or Syndrome
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|
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1 |
C1853490 |
22q13.3 Deletion Syndrome
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disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Disease or Syndrome
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genetic disease
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1 |
C0342727 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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Disease or Syndrome
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genetic disease; disease of metabolism
|
|
1 |
C2751532 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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Disease or Syndrome
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|
|
1 |
C1291230 |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
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Disease or Syndrome
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genetic disease; disease of metabolism
|
|
1 |
C0268600 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; disease of anatomical entity
|
|
2 |
C0342728 |
3-Methylglutaconic aciduria type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0878676 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0175701 |
Aarskog syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health
|
|
1 |
C0265265 |
Aase syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
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Disease or Syndrome
|
|
|
1 |
C0001080 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
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genetic disease; disease of anatomical entity
|
|
1 |
C4225297 |
ACHROMATOPSIA 7
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disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C1970173 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
1 |
C0162309 |
Adrenoleukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C1527231 |
Adrenomyeloneuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C2931875 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0002066 |
Alkaptonuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; disease of anatomical entity
|
|
1 |
C0795889 |
Allan-Herndon-Dudley syndrome (AHDS)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C1567741 |
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0268425 |
Alstrom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C1260899 |
Anemia, Diamond-Blackfan
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
1 |
C0162635 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C2675179 |
Arginine:Glycine Amidinotransferase Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |