11 pairs of ribs
|
phenotype |
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aase syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
1985 |
1991 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
strong |
1.000 |
1 |
|
1991 |
1991 |
Abnormality of the genital system
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
36
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the urinary system
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Absence Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
89
|
17
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Acute leukemia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
639
|
50
|
0.100 |
None |
|
0 |
|
|
|
Acute Megakaryocytic Leukemias
|
disease |
Neoplasms
|
Neoplastic Process
|
159
|
15
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Myelodysplastic Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
332
|
20
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2018 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.030 |
None |
1.000 |
3 |
|
1996 |
1997 |
AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
12
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.070 |
None |
1.000 |
7 |
|
1997 |
2019 |
Anemia, Diamond-Blackfan
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
38
|
0.700 |
strong |
0.975 |
120 |
6
|
1992 |
2020 |
Anemia, Diamond-Blackfan, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Anemia, Hemolytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
154
|
31
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.100 |
None |
|
0 |
|
|
|
Anemia, normochromic macrocytic
|
disease |
|
Disease or Syndrome
|
1
|
|
0.030 |
None |
1.000 |
3 |
|
2000 |
2019 |
Anemia, severe
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
65
|
6
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2017 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ankle stiff
|
phenotype |
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Anorexia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
242
|
10
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Anti-Glomerular Basement Membrane Disease
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
32
|
3
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |