SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
44
|
12
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
Fibrodysplasia Ossificans Progressiva
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
58
|
17
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Prolonged neonatal jaundice
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
59
|
14
|
0.100 |
None |
|
0 |
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
69
|
4
|
0.100 |
None |
|
0 |
|
|
|
Pancreatic Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
100
|
11
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2018 |
Pruritus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
107
|
2
|
0.100 |
None |
|
0 |
|
|
|
Desmoplastic
|
disease |
|
Disease or Syndrome
|
117
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital atresia of extrahepatic bile duct
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
172
|
19
|
0.020 |
None |
1.000 |
2 |
2
|
2013 |
2016 |
Ameloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
174
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Biliary Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
184
|
32
|
0.320 |
None |
1.000 |
2 |
2
|
2013 |
2016 |
PACHYONYCHIA CONGENITA 3
|
disease |
|
Disease or Syndrome
|
209
|
20
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.100 |
None |
|
0 |
|
|
|
Borderline Personality Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
221
|
82
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Senile Plaques
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
249
|
21
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hereditary hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
254
|
56
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |