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-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
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
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
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
Thrombocytopenic purpura
disease
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
15
0.010
None
1.000
1
1999
1999
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
Developmental delay (disorder)
phenotype
Mental Disorders
Mental or Behavioral Dysfunction
584
68
0.010
None
1.000
1
2011
2011
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
May-Hegglin anomaly
phenotype
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
Disease or Syndrome
12
19
0.010
None
1.000
1
1999
1999
High-Grade Squamous Intraepithelial Lesions
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
Neoplastic Process
150
8
0.010
None
1.000
1
2015
2015
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
Autosomal dominant macrothrombocytopenia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Disease or Syndrome
9
0.310
None
1.000
1
2017
2017
Giant platelet disorder
disease
Congenital Abnormality
1
0.010
None
1.000
1
1999
1999
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
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.110
None
1.000
1
2011
2011
Congenital anomaly of face
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
Congenital Abnormality
114
7
0.010
None
1.000
1
2004
2004
Low Grade Squamous Intraepithelial Neoplasia
disease
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
Neoplastic Process
94
2
0.010
None
1.000
1
2015
2015
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
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
Congenital hypoplasia of thymus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
34
0.100
None
0
Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
0.100
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0