MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
32
8
0.800
definitive
1.000
25
8
1969
2019
Rheumatoid Arthritis
disease
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
Disease or Syndrome
2723
2387
0.320
None
1.000
3
1998
2017
Mood Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
580
308
0.320
None
1.000
2
2010
2017
Bipolar Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1183
839
0.310
None
1.000
1
2008
2008
Bipolar II disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
21
12
0.300
None
1.000
1
2008
2008
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.170
None
1.000
7
2008
2019
Smith-Magenis syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
47
8
0.130
None
0.667
3
1
2005
2018
Osteoporosis
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
1098
182
0.120
None
1.000
2
2013
2019
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.110
None
1.000
1
2013
2013
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.110
None
1.000
1
2019
2019
Congenital kyphoscoliosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
151
2
0.110
None
1.000
1
2018
2018
Scoliosis, unspecified
disease
Musculoskeletal Diseases
Disease or Syndrome
850
135
0.100
None
0.983
58
2017
2020
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.100
None
0.968
31
2017
2020
Autism Spectrum Disorders
disease
Mental Disorders
Mental or Behavioral Dysfunction
1071
331
0.100
None
1.000
14
2016
2020
Metastatic malignant neoplasm to brain
disease
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases
Neoplastic Process
392
28
0.100
None
1.000
14
2016
2019
Androgen-Insensitivity Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Disease or Syndrome
247
176
0.100
None
1.000
11
2017
2019
Microstomia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Congenital Abnormality
172
9
0.100
None
0
Facial asymmetry
phenotype
Pathological Conditions, Signs and Symptoms
Finding
109
13
0.100
None
0
Myoclonus
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
265
34
0.100
None
0
Exophthalmos
disease
Eye Diseases
Disease or Syndrome
225
12
0.100
None
0
Wide spaced nipples
phenotype
Finding
96
19
0.100
None
0
Congenital Camptodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
123
10
0.100
None
0
Acquired Kyphoscoliosis
disease
Musculoskeletal Diseases
Acquired Abnormality
149
2
0.100
None
0
Absent speech
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
232
72
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0