Desbuquois syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
3
|
0.560 |
None |
1.000 |
6 |
|
2014 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
5 |
1
|
2014 |
2017 |
DESBUQUOIS DYSPLASIA 2
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.600 |
None |
1.000 |
4 |
9
|
2014 |
2019 |
Diabetic Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1189
|
238
|
0.030 |
None |
1.000 |
3 |
2
|
2005 |
2006 |
Hand deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
60
|
2
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.020 |
None |
1.000 |
2 |
1
|
2006 |
2019 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.020 |
None |
1.000 |
2 |
1
|
2006 |
2006 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.210 |
None |
1.000 |
2 |
|
2005 |
2007 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Arthrofibrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Brooke-Spiegler syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Organic Mental Disorders, Substance-Induced
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
115
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Barber Say syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
21
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Substance-Related Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
128
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Somatotropin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
154
|
14
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Insulin-Like Growth Factor I Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Intervertebral Disc Degeneration
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
342
|
47
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Substance Use Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
218
|
16
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Substance Dependence
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
156
|
19
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Short extremities
|
phenotype |
|
Congenital Abnormality
|
38
|
10
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |