Congenital malrotation of intestine
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Congenital Abnormality
77
5
0.100
None
0
Reduced concentration span
phenotype
Behavior and Behavior Mechanisms
Finding
77
2
0.100
None
0
Cleft lip or lips
phenotype
Anatomical Abnormality
78
37
0.010
None
1.000
1
2017
2017
Neck webbing
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Congenital Abnormality
78
19
0.100
None
0
Nail dysplasia
disease
Pathological Conditions, Signs and Symptoms
Congenital Abnormality
78
2
0.100
None
0
1
Progressive sensorineural hearing impairment
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
78
28
0.100
None
0
1
Cutis marmorata
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
Disease or Syndrome
80
9
0.100
None
0
Dysmorphism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
80
16
0.100
None
0
1
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2018
2018
Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2018
2018
Flat face
phenotype
Finding
83
7
0.100
None
0
Long eyelashes
phenotype
Finding
83
17
0.100
None
0
Low posterior hairline
phenotype
Finding
86
11
0.100
None
0
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2018
2018
Hirsutism
phenotype
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Finding
88
17
0.100
None
0
2
Round face
phenotype
Finding
88
3
0.100
None
0
Absence Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
89
17
0.010
None
1.000
1
2016
2016
Short palpebral fissure
phenotype
Finding
91
16
0.100
None
0
Tapering fingers (finding)
phenotype
Finding
91
19
0.100
None
0
Nijmegen Breakage Syndrome
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
94
144
0.010
None
1.000
1
2018
2018
Obsessive compulsive behavior
disease
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
94
16
0.100
None
0
Thin lips
phenotype
Finding
99
8
0.100
None
0
Choanal Atresia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
Congenital Abnormality
104
7
0.100
None
0
Micromelia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
104
1
0.100
None
0
Thick eyebrow
phenotype
Finding
104
13
0.100
None
0
1