SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.630 |
None |
1.000 |
4 |
5
|
2016 |
2019 |
Esophoria
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal CNS myelination
|
disease |
|
Anatomical Abnormality
|
9
|
4
|
0.100 |
None |
|
0 |
|
|
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
obsolete Abnormal heart morphology
|
phenotype |
|
Anatomical Abnormality
|
12
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Occult chronic type B viral hepatitis
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
13
|
4
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dilation of lateral ventricles
|
phenotype |
|
Finding
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Ph-Like Acute Lymphoblastic Leukemia
|
disease |
|
Neoplastic Process
|
30
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Heart murmur
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Narrow palate
|
phenotype |
|
Finding
|
40
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Childhood Alveolar Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
59
|
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2020 |
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Alloimmunisation
|
disease |
|
Disease or Syndrome
|
65
|
3
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Childhood Embryonal Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
67
|
7
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Neuroblastic tumors
|
disease |
Neoplasms
|
Neoplastic Process
|
73
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
12
|
0.100 |
None |
|
0 |
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hemoglobinopathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
80
|
43
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Mastocytosis, Systemic
|
disease |
Neoplasms; Immune System Diseases
|
Neoplastic Process
|
94
|
11
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Mastocytosis
|
disease |
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
98
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Full cheeks
|
phenotype |
|
Finding
|
103
|
4
|
0.100 |
None |
|
0 |
|
|
|
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|