DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
2 |
2
|
2014 |
2014 |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
|
phenotype |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Congenital anomaly of gastrointestinal tract
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications
|
Congenital Abnormality
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dystrophy, granular
|
disease |
|
Disease or Syndrome
|
4
|
8
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Generalized hypopigmentation of hair
|
disease |
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Anisometropia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
7
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
White blood cell abnormality
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Lactic acidemia
|
phenotype |
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Familial Glucocorticoid Deficiency Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
12
|
18
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Refractory Acute Lymphoblastic Leukemia
|
disease |
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
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
|
0.510 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Abnormality of the lymphatic system
|
disease |
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Esophageal Stenosis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
stage, colon cancer
|
phenotype |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
18
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
4
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
After-cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
22
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Excessive wrinkled skin
|
phenotype |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Familial Atypical Mole Melanoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
30
|
3
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital hypoplasia of adrenal gland
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
45
|
13
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Freckles
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
45
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Melanoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
50
|
67
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |