Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Superficial ulcer
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
242
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Deformity of bone
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
17
|
2
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2018 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Spinal canal stenosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pelvic girdle bone morphology
|
disease |
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
Fibular bowing
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
1991 |
1991 |
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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
|
54
|
122
|
1.000 |
strong |
0.976 |
83 |
114
|
1987 |
2020 |
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 |
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 |
Familial Hypophosphatemic Rickets
|
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
|
43
|
15
|
0.500 |
None |
0.972 |
36 |
2
|
1988 |
2019 |
Hypophosphatemic Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
6
|
0.200 |
None |
1.000 |
27 |
1
|
1998 |
2019 |
Peroxisome biogenesis disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
41
|
38
|
0.100 |
None |
0.960 |
25 |
|
1997 |
2020 |
Hypophosphatemic Rickets, X-Linked Recessive
|
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
|
0.500 |
None |
1.000 |
15 |
|
1988 |
2018 |
Hypophosphatemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
69
|
5
|
0.200 |
None |
1.000 |
13 |
1
|
1998 |
2019 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.200 |
None |
0.917 |
12 |
|
1989 |
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 |
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 |