Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.310 |
moderate |
1.000 |
3 |
|
1992 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.310 |
moderate |
1.000 |
3 |
|
1992 |
2017 |
Chromosome 5, trisomy 5q
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
1
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2008 |
CUI: |
C0030193 |
Disease: |
Pain
|
Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1554
|
196
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Myelodysplastic Syndrome with Isolated del(5q)
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
41
|
1
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2008 |
5q-syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
45
|
1
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2008 |
Writer's Cramp
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
3
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adult-Onset Idiopathic Focal Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adult-Onset Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Focal Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
21
|
8
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Childhood Onset Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
13
|
8
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Agnosia for Pain
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
204
|
25
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Idiopathic familial dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adult-Onset Idiopathic Torsion Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Autosomal Dominant Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Familial Hyperekplexia
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
HYPEREKPLEXIA 2
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY
|
disease |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pseudodystonia
|
disease |
Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dystonias, Sporadic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dystonia, Secondary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Autosomal Recessive Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |