blood phenylalanine measurement by Guthrie microbiologic assay
|
phenotype |
|
Laboratory Procedure
|
4
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
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 |
Distal monosomy 3p syndrome
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
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 |
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 |
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 |
Nociceptive Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mechanical pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
30
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Function Tests
|
phenotype |
|
Diagnostic Procedure
|
67
|
108
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Congenital deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
72
|
11
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2018 |
Opiate Addiction
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
81
|
46
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Child Development Disorders, Pervasive
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
168
|
379
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
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 |
Kidney Calculi
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
190
|
71
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nephrolithiasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
242
|
99
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
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 |
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 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Essential Hypertension
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
445
|
293
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1999 |
Invasive carcinoma of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
473
|
21
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |