Abnormality of immune system physiology
|
phenotype |
|
Pathologic Function
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellum
|
group |
Nervous System Diseases
|
Finding
|
55
|
11
|
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 |
|
|
|
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.100 |
None |
|
0 |
|
|
|
Dental Enamel Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
72
|
1
|
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 |
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Fenestration (morphologic abnormality)
|
disease |
|
Acquired Abnormality
|
43
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
|
|
|
Focal cortical dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
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
|
0.310 |
None |
1.000 |
1 |
|
2018 |
2018 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hiatal Hernia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoalbuminemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
107
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the ear cartilage
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
|
0 |
|
|
|