Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Mitral Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
94
|
11
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Weill-Marchesani syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
4
|
0.770 |
strong |
1.000 |
8 |
1
|
2004 |
2019 |
WEILL-MARCHESANI SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
8
|
0.610 |
strong |
1.000 |
4 |
7
|
2004 |
2018 |
Weill-Marchesani Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.510 |
None |
1.000 |
2 |
|
2004 |
2018 |
Williams Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
104
|
6
|
0.060 |
None |
1.000 |
6 |
1
|
2008 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
4 |
2
|
2008 |
2019 |
Height
|
phenotype |
|
Organism Attribute
|
249
|
517
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Microspherophakia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
9
|
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.020 |
None |
1.000 |
2 |
1
|
2010 |
2018 |
Glaucoma, Primary Open Angle
|
disease |
Eye Diseases
|
Disease or Syndrome
|
383
|
222
|
0.020 |
None |
1.000 |
2 |
1
|
2011 |
2014 |
Intraocular pressure disorder
|
disease |
Eye Diseases
|
Disease or Syndrome
|
304
|
56
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |