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 |
Fine, reticulate skin pigmentation
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Leukocoria
|
disease |
Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Telomere Syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Nail Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
1
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Generalized hypopigmentation of hair
|
disease |
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Reticular hyperpigmentation
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Pitting of nails
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
White blood cell abnormality
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Reticulated skin pigmentation
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Ridged fingernail
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Inherited bone marrow failure syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Short telomere length
|
phenotype |
|
Anatomical Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
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 |
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 |
Esophageal Stenosis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
White hair
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Rough bone trabeculation
|
disease |
|
Anatomical Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Skin Vesicle
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Ridged nails
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Exudative retinopathy
|
disease |
Eye Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
6
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Aplastic/hypoplastic toenail
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|