POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2004 |
2004 |
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital disorder of glycosylation type 1H
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
8
|
0.740 |
strong |
1.000 |
7 |
8
|
2004 |
2020 |
Isolated polycystic liver disease
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
7
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome; Congenital Abnormality
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Abnormal isoelectric focusing of serum transferrin
|
phenotype |
|
Finding
|
15
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Protein-Losing Enteropathies
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Partial thromboplastin time increased (finding)
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital disorder of glycosylation type 1s
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Cystic liver disease
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
19
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Liver cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
26
|
5
|
0.100 |
None |
|
0 |
|
|
|
Polycystic liver disease
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
38
|
17
|
0.310 |
None |
1.000 |
2 |
|
2018 |
2019 |
Fetal Distress
|
disease |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
44
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Overriding toe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
47
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Skin Manifestations
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
50
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Hydrops Fetalis, Non-Immune
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
22
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
54
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Lymphedema
|
disease |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
61
|
1
|
0.100 |
None |
|
0 |
|
|
|
Heart Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Large fontanelle
|
phenotype |
|
Finding
|
77
|
3
|
0.100 |
None |
|
0 |
|
|
|
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
98
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
|
|
|