C2751532 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
5 |
0 |
C1291230 |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
3 |
0 |
C0342737 |
3-Hydroxyisobutyric aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
2 |
0 |
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
|
|
5 |
0 |
C3696376 |
3-Methylglutaconic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype
|
16 |
1 |
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 |
0 |
C0574083 |
3-Methylglutaconic aciduria type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
29 |
1 |
C0574084 |
3-Methylglutaconic aciduria type 3
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
11 |
3 |
C1855126 |
3-Methylglutaconic Aciduria Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
4 |
0 |
C4040739 |
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
0 |
C3553597 |
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
0 |
C0580190 |
3-Phosphoglycerate dehydrogenase deficiency
|
disease |
|
Disease or Syndrome
|
|
|
0 |
1 |
C0796137 |
3C syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
4 |
0 |
C2936403 |
46, XX Disorders of Sex Development
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
|
|
5 |
1 |
C2936419 |
46, XX Testicular Disorders of Sex Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
|
|
11 |
1 |
C0432481 |
46, XX true hermaphrodite
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
2 |
0 |
C2751824 |
46, XY Disorders of Sex Development
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
29 |
10 |
C0432470 |
46, XY female
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
25 |
5 |
C4479552 |
46,XX SEX REVERSAL 4
|
disease |
|
Congenital Abnormality
|
|
|
2 |
0 |
C4510744 |
46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
|
|
2 |
0 |
C3266843 |
47, XYY syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
|
|
9 |
0 |
C4512053 |
4p16.3 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C0265404 |
4q partial monosomy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
|
|
1 |
0 |
C4304530 |
4q21 microdeletion syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
|
|
2 |
0 |
C0268615 |
5,10-Methylenetetrahydrofolate reductase deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
6 |
6 |