Estren-Dameshek Variant of Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
definitive |
1.000 |
6 |
|
1996 |
2018 |
Estren-Dameshek Variant of Fanconi Pancytopenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
definitive |
1.000 |
6 |
|
1996 |
2018 |
Growth retardation, pre- and postnatal
|
phenotype |
|
Finding
|
3
|
|
0.300 |
strong |
1.000 |
2 |
|
1996 |
2006 |
FANCONI ANEMIA, COMPLEMENTATION GROUP N
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
13
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Prolonged G2 phase of cell cycle
|
phenotype |
|
Cell or Molecular Dysfunction
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Deficient excision of UV-induced pyrimidine dimers in DNA
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Complete duplication of thumb phalanx
|
phenotype |
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Chromosomal breakage induced by crosslinking agents
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Anemic pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Anemia in children
|
disease |
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Reticulocytopenia
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Duplicated collecting system
|
disease |
|
Anatomical Abnormality
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sjogren-Larsson Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
28
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Thumb absent
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Thumb aplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the preputium
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the uvula
|
phenotype |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of fingers
|
phenotype |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Homocysteine measurement
|
phenotype |
|
Laboratory Procedure
|
23
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Skin Pigmentation
|
phenotype |
|
Organ or Tissue Function
|
24
|
72
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Pyridoxine-responsive sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Absent testes
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Absent radius
|
disease |
|
Congenital Abnormality
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
46, XY female
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Fanconi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |