Vitamin D Hydroxylation-Deficient Rickets, Type 1B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
2
|
1
|
0.730 |
None |
1.000 |
6 |
1
|
2004 |
2017 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.310 |
None |
1.000 |
2 |
|
2013 |
2014 |
Vitamin D-dependent rickets, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
6
|
21
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Metabolic Bone Disorder
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
66
|
1
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Uveomeningoencephalitic Syndrome
|
disease |
Eye Diseases; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
102
|
27
|
0.300 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.150 |
None |
1.000 |
5 |
3
|
2012 |
2017 |
Vitamin D Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
153
|
37
|
0.100 |
None |
0.929 |
14 |
6
|
2012 |
2019 |
Vitamin D3 measurement
|
phenotype |
|
Laboratory Procedure
|
14
|
51
|
0.100 |
None |
1.000 |
2 |
4
|
2010 |
2018 |
Vitamin D measurement
|
phenotype |
|
Laboratory Procedure
|
14
|
51
|
0.100 |
None |
1.000 |
2 |
4
|
2010 |
2018 |
Elevated circulating parathyroid hormone level
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Increased susceptibility to fractures
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Sparse bone trabeculae
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Thin bony cortex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Bulging epiphyses
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Late tooth eruption
|
phenotype |
|
Finding
|
139
|
4
|
0.100 |
None |
|
0 |
|
|
|
Difficulty standing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
21
|
14
|
0.100 |
None |
|
0 |
|
|
|
Hypophosphatemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Adult Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
47
|
|
0.100 |
None |
|
0 |
|
|
|