Thiamine-responsive megaloblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Usher syndrome, type 1D
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperostosis Frontalis Interna
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the urethra
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive cone-rod dystrophy
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormal adipose tissue morphology
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Irregular Menstruation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
9
|
3
|
0.100 |
None |
|
0 |
|
|
|
Childhood-onset truncal obesity
|
phenotype |
|
Finding
|
11
|
4
|
0.300 |
strong |
|
0 |
|
|
|
Alstrom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
179
|
1.000 |
definitive |
1.000 |
63 |
179
|
1998 |
2020 |
Decreased HDL cholesterol concentration
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female external genitalia
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Subcapsular cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Acquired Abnormality
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Insulin-resistant diabetes mellitus
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Mild short stature
|
phenotype |
|
Finding
|
25
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Chronic Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
29
|
41
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Abnormal chorioretinal morphology
|
disease |
|
Anatomical Abnormality
|
36
|
1
|
0.100 |
None |
|
0 |
|
|
|
Truncal obesity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Finding
|
38
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Death in early adulthood
|
phenotype |
|
Finding
|
46
|
2
|
0.100 |
None |
|
0 |
|
|
|
Testicular hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
50
|
1
|
0.100 |
None |
|
0 |
|
|
|
Multinodular goiter
|
disease |
Neoplasms; Endocrine System Diseases
|
Disease or Syndrome
|
51
|
6
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Visual field constriction
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
57
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hand deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
60
|
2
|
0.100 |
None |
|
0 |
|
|
|
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
11
|
0.100 |
None |
|
0 |
|
|
|