Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2002
2002
Liver Cirrhosis, Experimental
disease
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
Experimental Model of Disease
870
0.300
None
1.000
1
2014
2014
Mammary Neoplasms, Human
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
527
0.300
None
1.000
1
2015
2015
Heterotopia, Periventricular, Ehlers-Danlos Variant
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
1
0.300
None
1.000
1
2005
2005
FG SYNDROME 4 (disorder)
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
Disease or Syndrome
3
8
0.300
None
1.000
1
2007
2007
FG SYNDROME 3
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
Disease or Syndrome
3
0.300
None
1.000
1
2007
2007
Dyschondroplasias
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
24
0.300
None
1.000
1
2003
2003
Multiple Epiphyseal Dysplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
40
7
0.300
None
1.000
1
2003
2003
Spondyloepiphyseal Dysplasia Tarda, X-Linked
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
20
3
0.300
None
1.000
1
2003
2003
Schwartz-Jampel Syndrome, Type 1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
16
4
0.300
None
1.000
1
2003
2003
Schwartz-Jampel Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
77
12
0.300
None
1.000
1
2003
2003
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2002
2002
Spondyloepiphyseal Dysplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
29
0.300
None
1.000
1
2003
2003
Mammary Carcinoma, Human
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
545
0.300
None
1.000
1
2015
2015
Ehlers-Danlos syndrome type 5
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
2
4
0.300
None
1.000
1
4
2017
2017
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2002
2002
Neuronal intestinal pseudoobstruction
disease
Digestive System Diseases; Nervous System Diseases
Disease or Syndrome
3
0.300
None
1.000
1
2007
2007
Disproportionate short stature
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Finding
86
6
0.300
None
0
Malformations of Cortical Development, Group II
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
180
101
0.150
None
1.000
5
2
2000
2018
Thrombocytopenia
phenotype
Hemic and Lymphatic Diseases
Disease or Syndrome
592
110
0.140
None
1.000
4
1
2011
2018
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.130
None
1.000
3
1
2007
2015
Skeletal dysplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
186
65
0.130
None
1.000
3
1982
2018
Congenital omphalocele
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
85
13
0.120
None
1.000
2
1982
2004
Respiratory Failure
disease
Respiratory Tract Diseases
Disease or Syndrome
319
23
0.120
None
1.000
2
2017
2020
Idiopathic pulmonary arterial hypertension
disease
Respiratory Tract Diseases
Disease or Syndrome
776
24
0.120
None
1.000
2
2019
2019