Bernard-Soulier Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
46
|
23
|
1.000 |
definitive |
1.000 |
25 |
3
|
1988 |
2019 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.400 |
None |
1.000 |
2 |
1
|
2004 |
2019 |
Neonatal Alloimmune Thrombocytopenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
29
|
1
|
0.400 |
None |
|
0 |
|
|
|
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Autosomal dominant macrothrombocytopenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
2
|
0.310 |
None |
1.000 |
1 |
|
2019 |
2019 |
Polycystic Ovary Syndrome
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
988
|
363
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Juvenile-Onset Still Disease
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
171
|
41
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Juvenile arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
450
|
128
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Brooke-Spiegler syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
8
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Juvenile psoriatic arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
138
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Polyarthritis, Juvenile, Rheumatoid Factor Positive
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
131
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Sclerocystic Ovaries
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
144
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Polyarthritis, Juvenile, Rheumatoid Factor Negative
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
131
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Barber Say syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
21
|
4
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
CONOTRUNCAL ANOMALY FACE SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
|
0.300 |
None |
|
0 |
|
|
|
Asymmetric crying face association
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.300 |
None |
|
0 |
|
|
|
Deficiency of Platelet Glycoprotein 1b
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
FNAITP
|
disease |
|
Disease or Syndrome
|
12
|
2
|
0.300 |
None |
|
0 |
|
|
|
Shprintzen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
46
|
3
|
0.300 |
None |
|
0 |
|
|
|
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
Macrothrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
34
|
31
|
0.130 |
None |
1.000 |
3 |
2
|
2016 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |