C4755260 |
12p12.1 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4305140 |
12q14 microdeletion syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
2 |
C4749855 |
14q11.2 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4305240 |
14q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C3697269 |
15q24 Microdeletion
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
genetic disease
|
|
1 |
C4304594 |
16q24.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C0268296 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
C4304578 |
1p21.3 microdeletion syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
C4707828 |
1p31p32 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C4304540 |
1q44 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C1857252 |
2,4-Dienoyl-CoA Reductase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C3665382 |
2,8-Dihydroxyadenine Urolithiasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C1859817 |
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
|
disease |
|
Finding
|
genetic disease; disease of metabolism
|
|
1 |
C1864912 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C4304539 |
20p12.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
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
|
|
|
9 |
C3266101 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
|
|
9 |
C1853490 |
22q13.3 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C4304537 |
2p21 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
C4749458 |
2p21 microdeletion syndrome without cystinuria
|
disease |
|
Disease or Syndrome
|
|
|
2 |
C4304532 |
2q23.1 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4706258 |
2q33.1 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
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 |
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 |
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 |