Juvenile-onset dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
strong |
1.000 |
3 |
2
|
2002 |
2018 |
Pigmented hairy epidermal nevus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Neoplastic Process
|
1
|
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2017 |
Becker Nevus Syndrome
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2017 |
Aortopulmonary Septal Defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Actin-Accumulation Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
48
|
0.050 |
None |
1.000 |
5 |
|
1999 |
2018 |
Intranuclear Rod Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2004 |
Visceral Myopathy, Familial
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Infantile Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
2
|
|
0.010 |
None |
< 0.001 |
1 |
|
1993 |
1993 |
Disorder of smooth muscle
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dysentery, Bacillary
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cerebrofrontofacial Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
OTOPALATODIGITAL SYNDROME, TYPE II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
21
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Signet-ring stromal tumor
|
disease |
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Iris flocculi
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Externally rotated hips
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Fryns-Aftimos Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
1
|
0.360 |
strong |
1.000 |
7 |
1
|
2012 |
2017 |
Encephalitis Lethargica
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Secondary myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
30
|
0.720 |
None |
1.000 |
9 |
29
|
1989 |
2018 |
Lattice corneal dystrophy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases
|
Disease or Syndrome
|
4
|
4
|
0.040 |
None |
1.000 |
4 |
|
1990 |
2004 |
Zebra body myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2015 |
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
|
disease |
|
Disease or Syndrome
|
4
|
1
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2018 |
Polyclonal hypergammaglobulinemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Atelosteogenesis, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
24
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Nemaline Myopathy, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2002 |
2002 |