Abnormality of immune system physiology
phenotype
Pathologic Function
42
1
0.100
None
0
Abnormality of the dentition
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Finding
140
16
0.100
None
0
Abnormality of the intervertebral disk
disease
Anatomical Abnormality
30
0.100
None
0
Adducted thumb
phenotype
Musculoskeletal Diseases
Finding
74
5
0.100
None
0
Aqueductal Stenosis
disease
Nervous System Diseases
Disease or Syndrome
34
2
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Brain atrophy
disease
Nervous System Diseases
Disease or Syndrome
182
46
0.100
None
0
Cerebral atrophy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
454
44
0.100
None
0
Cerebral ventriculomegaly
phenotype
Nervous System Diseases
Finding
410
0.100
None
0
Class III malocclusion
disease
Stomatognathic Diseases
Congenital Abnormality
181
19
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
Diabetes
disease
Endocrine System Diseases
Disease or Syndrome
2359
710
0.100
None
1.000
1
1
2019
2019
Diabetes Mellitus
group
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
2803
824
0.100
None
1.000
1
1
2019
2019
Dilated ventricles (finding)
phenotype
Finding
427
32
0.100
None
0
Dwarfism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Congenital Abnormality
1261
77
0.100
None
0
Dysmorphic facies
phenotype
Finding
271
106
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Electroencephalogram abnormal
phenotype
Nervous System Diseases
Finding
227
27
0.100
None
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.100
None
0
Flexion contracture of proximal interphalangeal joint
phenotype
Finding
168
7
0.100
None
0
Galloway Mowat syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases
Disease or Syndrome
15
1
0.520
None
1.000
3
2017
2019
GALLOWAY-MOWAT SYNDROME 5
disease
Disease or Syndrome
1
2
0.600
None
1.000
2
2
2017
2018
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Glomerular Filtration Rate
phenotype
Diagnostic Procedure
399
1033
0.100
None
1.000
1
1
2019
2019
Glomerulonephritis
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
391
7
0.100
None
0