FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
9 |
1
|
2010 |
2019 |
Hyperinsulinism due to HNF4A deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
3
|
0.400 |
None |
1.000 |
2 |
3
|
2010 |
2015 |
Fetal Macrosomia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Finding
|
2
|
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
Insulin Receptor, Defect in
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Iatrogenic hyperinsulinism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Idiopathic non-cirrhotic portal hypertension
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Metabolic Ketosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of exocrine pancreas physiology
|
phenotype |
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Maturity-Onset Diabetes of the Young, Type 1
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
24
|
1.000 |
None |
1.000 |
33 |
22
|
1977 |
2019 |
Onchocerciasis, Ocular
|
disease |
Infections; Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Diabetes in youth
|
disease |
|
Disease or Syndrome
|
4
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Increased hepatic glycogen content
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of endocrine pancreas physiology
|
phenotype |
|
Pathologic Function
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Renal cysts and diabetes syndrome
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
5
|
42
|
0.310 |
None |
1.000 |
2 |
|
2008 |
2014 |
Serum triglycerides increased
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Aplasia/Hypoplasia of the pancreas
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Tracheobronchomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Papillary cystadenoma of the epididymis
|
disease |
|
Neoplastic Process
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Intestinal carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Diabetes mellitus autosomal dominant type II (disorder)
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
139
|
0.050 |
None |
1.000 |
5 |
1
|
2008 |
2019 |
Factor VII Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
10
|
73
|
0.030 |
None |
1.000 |
3 |
|
2000 |
2012 |
Congenital absence of vas deferens
|
disease |
|
Congenital Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Lipoatrophic Diabetes Mellitus
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
12
|
48
|
0.070 |
None |
1.000 |
7 |
|
1997 |
2011 |
Caudal Regression Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |