C4304539 |
20p12.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C2936346 |
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
10 |
0 |
C3266101 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
|
|
9 |
0 |
C1853490 |
22q13.3 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
2 |
9 |
C4304537 |
2p21 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
0 |
C4749458 |
2p21 microdeletion syndrome without cystinuria
|
disease |
|
Disease or Syndrome
|
|
|
2 |
0 |
C4304532 |
2q23.1 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C4706258 |
2q33.1 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C0342471 |
3 beta-Hydroxysteroid dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
20 |
C1856889 |
3-4 finger syndactyly
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
0 |
1 |
C1834062 |
3-4 toe syndactyly
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
0 |
1 |
C0342727 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
3 |
C1857776 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
1 |
C2751532 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
8 |
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
|
|
1 |
3 |
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 |
50 |
C1859499 |
3-methylcrotonyl CoA carboxylase 2 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
|
|
1 |
49 |
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
|
|
1 |
22 |
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
|
|
2 |
11 |
C4039473 |
3-methylglutaconic aciduria type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
0 |
C4225393 |
3-methylglutaconic aciduria type 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
20 |
C4040739 |
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C3553597 |
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
9 |
C4540171 |
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
4 |