Bardet-Biedl Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Disease or Syndrome
86
163
0.330
None
1.000
3
2015
2019
Ciliopathies
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
241
7
0.030
None
1.000
3
2015
2018
Arthritis, Gouty
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
206
2356
0.100
None
1.000
2
10
2010
2013
×
CUI:
C0018099
Disease:
Gout
Gout
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
205
2354
0.100
None
1.000
2
10
2010
2013
Retinitis Pigmentosa
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Disease or Syndrome
546
541
0.410
None
1.000
2
2015
2019
RETINITIS PIGMENTOSA 71
disease
Disease or Syndrome
2
7
0.700
strong
1.000
2
7
2013
2015
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
0.010
None
1.000
1
2013
2013
Cholera
disease
Infections
Disease or Syndrome
209
1
0.010
None
1.000
1
2018
2018
Leukemia, T-Cell
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
457
10
0.010
None
1.000
1
1999
1999
Adult T-Cell Lymphoma/Leukemia
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
540
11
0.010
None
1.000
1
1999
1999
VATER Association
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
Disease or Syndrome
12
0.200
None
1.000
1
2011
2011
Jeune thoracic dystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Disease or Syndrome
29
116
0.500
strong
1.000
1
2013
2013
Somatotropin deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
Disease or Syndrome
154
14
0.010
None
1.000
1
2015
2015
Nijmegen Breakage Syndrome
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
94
144
0.010
None
1.000
1
2016
2016
Familial aplasia of the vermis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
Disease or Syndrome
95
187
0.100
None
1.000
1
1
2015
2015
Atrioventricular Septal Defect
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
58
19
0.010
None
1.000
1
2011
2011
Thoracic dysplasia
disease
Congenital Abnormality
6
0.110
None
1.000
1
2019
2019
VACTERL Association With Hydrocephalus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
5
7
0.010
None
1.000
1
2011
2011
Mainzer-Saldino Disease
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Disease or Syndrome
5
20
0.510
strong
1.000
1
2013
2013
Gastrointestinal Stromal Sarcoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
74
0.300
None
1.000
1
2016
2016
Isolated somatotropin deficiency
disease
Disease or Syndrome
168
27
0.010
None
1.000
1
2015
2015
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
disease
Disease or Syndrome
2
8
0.600
strong
1.000
1
8
2013
2013
Cholestasis
disease
Digestive System Diseases
Disease or Syndrome
420
15
0.100
None
0
Cryptorchidism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
725
80
0.100
None
0
Diabetes Mellitus, Non-Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
3134
2672
0.100
None
0