FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
14
|
0.760 |
None |
1.000 |
13 |
13
|
2012 |
2019 |
Arhinia, choanal atresia, and microphthalmia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
18
|
0.750 |
strong |
1.000 |
5 |
18
|
2017 |
2019 |
Muscular Dystrophy, Facioscapulohumeral
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
3
|
0.600 |
moderate |
0.968 |
31 |
|
2012 |
2019 |
Arrhinia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.140 |
None |
1.000 |
4 |
|
2017 |
2019 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Small penis
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Anosmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
40
|
4
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscular Dystrophy, Scapulohumeral
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Winged scapula
|
phenotype |
|
Finding
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
Single naris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the olfactory bulb
|
disease |
|
Congenital Abnormality
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Failure of eruption of permanent teeth
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|