Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.900 |
None |
0.917 |
24 |
15
|
2008 |
2018 |
REVESZ SYNDROME (disorder)
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
4
|
0.730 |
None |
1.000 |
5 |
3
|
2008 |
2017 |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.700 |
None |
1.000 |
4 |
7
|
2008 |
2018 |
HOYERAAL-HREIDARSSON SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
16
|
1
|
0.500 |
moderate |
1.000 |
3 |
|
2008 |
2012 |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.310 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Nail Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
1
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
X-Linked Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
17
|
33
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Bone Marrow Diseases
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
84
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cerebellar Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
66
|
4
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2018 |
Exudative retinopathy
|
disease |
Eye Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
6
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lymphoma
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1548
|
91
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Aplastic Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
238
|
30
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Cerebral calcification
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
103
|
8
|
0.100 |
None |
|
0 |
|
|
|
Ridged fingernail
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Ridged nails
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive neurologic deterioration
|
phenotype |
Mental Disorders
|
Finding
|
33
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cellular immunodeficiency
|
phenotype |
Immune System Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Reticular hyperpigmentation
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1033
|
95
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.100 |
None |
|
0 |
|
|
|