Oculocerebrorenal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
42
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
|
|
|
Renal tubular disorder
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
64
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fine hair
|
phenotype |
|
Finding
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cutis Laxa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
21
|
0.100 |
None |
|
0 |
|
|
|
Urolithiasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
72
|
33
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypogammaglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
76
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Appendicitis
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
83
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Nephrotic Syndrome, Minimal Change
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
85
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
90
|
91
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Primary immune deficiency disorder
|
group |
Immune System Diseases
|
Disease or Syndrome
|
93
|
23
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hepatic Encephalopathy
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
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 |
|
|
|
Infective cystitis
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
106
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
|
0 |
|
|
|
Postnatal growth retardation
|
phenotype |
|
Finding
|
121
|
11
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cystitis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
149
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Disease Exacerbation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
166
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |