Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
|
0 |
|
|
|
Prelingual sensorineural hearing impairment
|
disease |
|
Disease or Syndrome
|
17
|
7
|
0.100 |
None |
|
0 |
|
|
|
Familial benign hypercalcemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
24
|
35
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Von Hippel-Lindau Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
174
|
187
|
0.020 |
None |
1.000 |
2 |
|
1993 |
1994 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Essential Hypertension
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
445
|
293
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1999 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.010 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Distal monosomy 3p syndrome
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Deafness, Autosomal Recessive 12
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
57
|
0.500 |
moderate |
1.000 |
1 |
|
2007 |
2007 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
blood phenylalanine measurement by Guthrie microbiologic assay
|
phenotype |
|
Laboratory Procedure
|
4
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Wolfram Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
9
|
36
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Narcolepsy
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
308
|
454
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Muscle Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
320
|
25
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
4
|
2011 |
2011 |
Respiratory Function Tests
|
phenotype |
|
Diagnostic Procedure
|
67
|
108
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.020 |
None |
1.000 |
2 |
2
|
2011 |
2013 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Child Development Disorders, Pervasive
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
168
|
379
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Niemann-Pick Disease, Type A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
98
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |