C2047886 |
(Idiopathic) normal pressure hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
0 |
C0865440 |
(non-specific) purulent meningitis
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
6 |
0 |
C3669121 |
11-Beta-hydroxylase 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
|
|
|
10 |
16 |
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 |
0 |
C4749920 |
15q overgrowth syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
3 |
0 |
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
|
|
4 |
0 |
C0852698 |
17,20-desmolase deficiency
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C3277849 |
17,20-Lyase Deficiency, Isolated
|
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 |
0 |
C4329212 |
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
|
disease |
|
Disease or Syndrome
|
|
|
4 |
8 |
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
|
|
|
5 |
2 |
C4518822 |
17q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C4274528 |
1q41q42 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
0 |
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
|
|
6 |
0 |
C4551570 |
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
0 |
C3266731 |
2-methyl-3-hydroxybutyric aciduria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
8 |
1 |
C2198591 |
2-methylbutyrylglycinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
0 |
C0852654 |
21-hydroxylase deficiency
|
disease |
|
Disease or Syndrome
|
|
|
55 |
28 |
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
|
|
|
27 |
2 |
C3266101 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
0 |
C1853490 |
22q13.3 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
14 |
1 |
C4304531 |
2q32q33 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
2 |
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
|
|
9 |
8 |
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
|
|
2 |
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
|
|
3 |
0 |
C0342826 |
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |