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 |
strong |
0.969 |
64 |
36
|
1998 |
2019 |
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
|
0.800 |
None |
1.000 |
45 |
33
|
1998 |
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
|
0.550 |
None |
1.000 |
5 |
|
1999 |
2016 |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.300 |
moderate |
1.000 |
1 |
|
1999 |
1999 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.180 |
None |
0.875 |
8 |
|
2010 |
2019 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.150 |
None |
1.000 |
5 |
2
|
1999 |
2018 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2018 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.110 |
None |
1.000 |
1 |
|
1999 |
1999 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.917 |
12 |
|
2004 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
0.909 |
11 |
|
2004 |
2019 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
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 |
1
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.100 |
None |
|
0 |
|
|
|
hypopigmented skin patch
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
123
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hypermelanotic macule
|
phenotype |
|
Finding
|
59
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Anal mucosal leukoplakia
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
White hair
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Small testicle
|
phenotype |
|
Finding
|
129
|
|
0.100 |
None |
|
0 |
|
|
|