Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Acquired porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
34
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Retinopathy of Prematurity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
202
|
16
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Osteitis Deformans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
134
|
58
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
51
|
29
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Macular dystrophy, corneal type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
100
|
54
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
34
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Epileptic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
250
|
7
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Pulmonary Sclerosing Hemangioma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
33
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
9
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Lesion of brain
|
group |
|
Disease or Syndrome
|
188
|
9
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lissencephaly with cerebellar hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |