Inflammatory cardiomyopathy
disease
Cardiovascular Diseases
Disease or Syndrome
25
0.010
None
1.000
1
2008
2008
Marijuana Abuse
disease
Chemically-Induced Disorders; Mental Disorders
Mental or Behavioral Dysfunction
156
23
0.010
None
1.000
1
1998
1998
Congenital chromosomal disease
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
757
47
0.100
None
0.917
12
1989
2010
Congenital Abnormality
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
1098
73
0.010
None
1.000
1
2011
2011
Hyper-IgM Immunodeficiency Syndrome, Type 1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
33
22
0.010
None
1.000
1
1993
1993
Dwarfism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Congenital Abnormality
1261
77
0.100
None
0
Muscular Dystrophy, Duchenne
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
375
170
0.010
None
1.000
1
1991
1991
Familial Atypical Mole Melanoma Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Neoplastic Process
30
3
0.010
None
1.000
1
1986
1986
Xeroderma Pigmentosum
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Congenital Abnormality
137
35
0.040
None
1.000
4
1993
2007
Rett Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
234
368
0.010
None
1.000
1
1990
1990
Mental Retardation, X-Linked 46
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
5
0.010
None
1.000
1
1998
1998
Disorder of purine metabolism
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
7
0.070
None
1.000
7
2014
2017
Inborn Errors of Metabolism
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome; Congenital Abnormality
119
3
0.020
None
1.000
2
2008
2010
GALACTOSIALIDOSIS
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
12
19
0.010
None
1.000
1
1986
1986
Oculocerebrorenal Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
Disease or Syndrome
54
42
0.010
None
1.000
1
1990
1990
Fanconi Anemia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
394
173
0.040
None
1.000
4
1990
1999
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
360
194
0.040
None
1.000
4
1990
1999
Ataxia Telangiectasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
384
698
0.020
None
1.000
2
1993
2001
Gout, HPRT-Related
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
3
19
0.800
strong
1.000
30
19
1983
2017
Arthritis, Gouty
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
206
2356
0.050
None
1.000
5
1
1984
2016
×
CUI:
C0018099
Disease:
Gout
Gout
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
205
2354
0.130
None
1.000
3
1992
2006
Chronic gouty arthritis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
3
0.010
None
1.000
1
2019
2019
Podagra
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Mental Disorders
Disease or Syndrome
1
0.100
None
0
Mucolipidoses
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
19
10
0.010
None
1.000
1
1986
1986
Type I Mucolipidosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
10
4
0.010
None
1.000
1
1986
1986