Mucopolysaccharidosis type IVB
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
72
|
0.800 |
strong |
1.000 |
80 |
72
|
1977 |
2018 |
Gangliosidosis, Generalized GM1, Type 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
79
|
0.760 |
strong |
0.982 |
57 |
79
|
1979 |
2017 |
Gangliosidosis, Generalized GM1, Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
61
|
0.730 |
strong |
1.000 |
51 |
61
|
1991 |
2018 |
Gangliosidosis, Generalized GM1, Type 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
53
|
0.720 |
None |
1.000 |
50 |
53
|
1984 |
2017 |
Gangliosidosis GM1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
31
|
0.700 |
None |
0.990 |
103 |
31
|
1975 |
2019 |
Mucopolysaccharidosis IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
28
|
9
|
0.520 |
strong |
1.000 |
6 |
|
1977 |
2019 |
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.430 |
None |
0.667 |
3 |
2
|
2012 |
2019 |
beta-Galactosidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.400 |
None |
1.000 |
14 |
|
1981 |
2018 |
Mucopolysaccharidosis, MPS-IV-A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
90
|
0.320 |
None |
1.000 |
4 |
|
1988 |
2018 |
GALNS Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
|
0.310 |
None |
1.000 |
3 |
|
1991 |
2018 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.310 |
None |
1.000 |
2 |
|
1976 |
1983 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.310 |
strong |
0.500 |
2 |
|
2003 |
2004 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Contact hypersensitivity
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
71
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Contact Dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
110
|
3
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
1.000 |
1 |
|
1976 |
1976 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.300 |
None |
1.000 |
1 |
|
1995 |
1995 |
Eczema, Infantile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |