Zellweger Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
1
|
0.090 |
None |
1.000 |
9 |
|
1999 |
2017 |
Zellweger Spectrum Disorder
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
1
|
0.050 |
None |
1.000 |
5 |
|
2013 |
2019 |
Zellweger Spectrum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
1
|
0.100 |
None |
1.000 |
11 |
|
2004 |
2018 |
X-linked hypogammaglobulinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2008 |
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
Vitamin D-Resistant Rickets, X-Linked
|
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
|
48
|
3
|
0.600 |
strong |
0.987 |
75 |
2
|
1988 |
2020 |
Vitamin D-resistant rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
6
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Vitamin D Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
153
|
37
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Trapezoidal distal femoral condyles
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Tibial bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Superficial ulcer
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
242
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Spinal canal stenosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Skin Erosion
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
225
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Shortening of the talar neck
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Rickets, X-Linked Hypophosphatemic
|
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
|
23
|
1
|
0.600 |
None |
1.000 |
51 |
1
|
1988 |
2020 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.200 |
None |
0.917 |
12 |
|
1989 |
2019 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
42
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Retinoschisis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
13
|
6
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Renal tubular disorder
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
64
|
5
|
0.100 |
None |
|
0 |
|
|
|