Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
IGA Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
456
|
130
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Radioulnar Synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
67
|
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
EHLERS-DANLOS SYNDROME, PROGEROID FORM
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
strong |
1.000 |
1 |
|
2004 |
2004 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
growth hormone treatment
|
disease |
|
Disease or Syndrome
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital disorder of glycosylation type 2D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
11
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Absent earlobe
|
phenotype |
|
Congenital Abnormality
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Short clavicle
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Advanced bone age
|
phenotype |
|
Finding
|
64
|
4
|
0.100 |
None |
|
0 |
|
|
|