Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.800 |
limited |
0.972 |
72 |
|
1992 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.410 |
None |
1.000 |
1 |
|
2009 |
2009 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.300 |
None |
0.971 |
35 |
|
1994 |
2017 |
Royer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.100 |
None |
0.985 |
464 |
1
|
1995 |
2020 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.100 |
None |
1.000 |
31 |
|
1998 |
2019 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.100 |
None |
1.000 |
21 |
|
1997 |
2019 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.100 |
None |
1.000 |
20 |
|
2000 |
2020 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.100 |
None |
1.000 |
18 |
|
1996 |
2018 |
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
34
|
8
|
0.100 |
None |
0.909 |
11 |
|
1996 |
2018 |
Protein Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
125
|
2
|
0.100 |
None |
1.000 |
10 |
|
2005 |
2018 |
Respiratory Function Tests
|
phenotype |
|
Diagnostic Procedure
|
67
|
108
|
0.100 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Pulmonary function (finding)
|
phenotype |
|
Finding
|
41
|
259
|
0.100 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Pulmonary function
|
phenotype |
|
Organ or Tissue Function
|
41
|
259
|
0.100 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Interleukin 8 Measurement
|
phenotype |
|
Laboratory Procedure
|
5
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|
Knee joint valgus deformity
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
117
|
5
|
0.100 |
None |
|
0 |
|
|
|
Short foot
|
phenotype |
|
Finding
|
116
|
|
0.100 |
None |
|
0 |
|
|
|
Increased serum serotonin
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Acromicria
|
disease |
|
Congenital Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|