DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.700 |
None |
1.000 |
4 |
9
|
2015 |
2019 |
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
2015 |
2015 |
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.670 |
strong |
1.000 |
8 |
2
|
2015 |
2019 |
Idiopathic Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
803
|
63
|
0.550 |
None |
0.833 |
6 |
|
2015 |
2019 |
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
|
0.320 |
None |
1.000 |
3 |
|
2015 |
2019 |
Familial Idiopathic Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
23
|
|
0.310 |
None |
1.000 |
2 |
|
2015 |
2015 |
Hamman-Rich syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
55
|
8
|
0.310 |
None |
1.000 |
2 |
|
2015 |
2016 |
Hamman-Rich Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Usual Interstitial Pneumonia
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
64
|
2
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.160 |
None |
1.000 |
6 |
|
1994 |
2017 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.150 |
None |
1.000 |
5 |
|
2015 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Hypermelanotic macule
|
phenotype |
|
Finding
|
59
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
hypopigmented skin patch
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
123
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
White hair
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|