Renal tubular acidosis
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
52
3
0.100
None
0
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype
Sign or Symptom
69
23
0.020
None
1.000
2
2019
2019
Ehlers-Danlos Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
77
14
0.020
None
1.000
2
2017
2018
Nephritis, Tubulointerstitial
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
92
6
0.100
None
0
Motor symptoms
phenotype
Sign or Symptom
100
15
0.010
None
1.000
1
2019
2019
Simple renal cyst
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
100
2
0.100
None
0
Hypoalbuminemia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
107
9
0.100
None
0
Prostate cancer, familial
disease
Neoplasms; Male Urogenital Diseases
Neoplastic Process
116
25
0.010
None
1.000
1
2005
2005
Infantile muscular hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
118
24
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Oligohydramnios
phenotype
Female Urogenital Diseases and Pregnancy Complications
Pathologic Function
129
21
0.100
None
0
Cortical visual impairment
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Pathologic Function
136
27
0.100
None
0
Leigh Disease
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
144
114
0.310
strong
1.000
2
2006
2008
Central visual impairment
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
158
1
0.100
None
0
Increased serum lactate
phenotype
Nutritional and Metabolic Diseases
Finding
169
2
0.100
None
0
Neonatal Hypotonia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
169
45
0.100
None
0
Renal cyst
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
170
17
0.100
None
0
Hepatitis, Chronic
disease
Digestive System Diseases
Disease or Syndrome
224
10
0.010
None
1.000
1
2014
2014
Dyssomnias
disease
Nervous System Diseases; Mental Disorders
Mental or Behavioral Dysfunction
236
10
0.010
None
1.000
1
2018
2018
Proteinuria
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Finding
239
20
0.100
None
0
Cardiomegaly
phenotype
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Finding
267
11
0.100
None
0
Focal glomerulosclerosis
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
281
50
0.010
None
1.000
1
2013
2013
Sleep disturbances
phenotype
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Sign or Symptom
311
74
0.030
None
1.000
3
2018
2019
Developmental regression
disease
Mental Disorders
Disease or Syndrome
333
80
0.100
None
0
Sleep Disorders
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
Mental or Behavioral Dysfunction
360
38
0.040
None
1.000
4
2018
2020