Abnormal hemoglobin finding
|
phenotype |
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Acute Chest Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
405
|
135
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Acute Erythroblastic Leukemia
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
302
|
5
|
0.040 |
None |
1.000 |
4 |
|
1980 |
1998 |
Adult Erythroleukemia
|
disease |
|
Neoplastic Process
|
236
|
4
|
0.020 |
None |
1.000 |
2 |
|
1990 |
1992 |
Adult Myelodysplastic Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
332
|
20
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Alpha thalassemia intermedia
|
disease |
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Alpha thalassemia minor
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
< 0.001 |
1 |
|
1989 |
1989 |
Alpha trait thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
10
|
3
|
0.140 |
None |
1.000 |
4 |
2
|
1988 |
2013 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.800 |
strong |
0.987 |
153 |
12
|
1971 |
2019 |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Alpha-Thalassemia Myelodysplasia Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
4
|
3
|
0.020 |
None |
1.000 |
2 |
|
1987 |
2004 |
ALPHA-THALASSEMIA, HMONG TYPE
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
ALPHA-THALASSEMIA-2, NONDELETIONAL
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.200 |
None |
0.986 |
142 |
6
|
1979 |
2019 |
alpha^+^ Thalassemia, deletion type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
alpha^0^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
21
|
|
0.100 |
None |
1.000 |
35 |
|
1977 |
2018 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.200 |
None |
0.957 |
23 |
1
|
1979 |
2018 |
Anemia, Hemolytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
154
|
31
|
0.120 |
None |
1.000 |
2 |
|
1988 |
1994 |
Anemia, severe
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
65
|
6
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2008 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.100 |
None |
1.000 |
24 |
|
1984 |
2018 |
Aplasia/Hypoplasia of the earlobes
|
disease |
|
Congenital Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the eyebrow
|
phenotype |
|
Finding
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Bart's Hemoglobinopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |