CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
disease |
|
Disease or Syndrome
|
3
|
21
|
0.740 |
strong |
1.000 |
6 |
21
|
2013 |
2019 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.710 |
strong |
1.000 |
3 |
6
|
2013 |
2018 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.320 |
None |
0.500 |
2 |
2
|
2011 |
2018 |
ARTHROGRYPOSIS, DISTAL, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
9
|
10
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Freeman-Sheldon syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
26
|
6
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
ARTHROGRYPOSIS, DISTAL, TYPE 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
6
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Digitotalar Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.130 |
None |
1.000 |
3 |
1
|
2016 |
2019 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.120 |
None |
1.000 |
3 |
1
|
2015 |
2019 |
Cachexia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
273
|
11
|
0.110 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
9 |
2
|
2013 |
2017 |
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Abnormal pattern of respiration
|
phenotype |
|
Finding
|
20
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Overfolded helix
|
phenotype |
|
Finding
|
46
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Sleep Apnea, Central
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
122
|
17
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Chin with horizontal crease
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Mental disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
789
|
149
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |