C0036439 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
850 |
135 |
C0003486 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
278 |
19 |
C0271183 |
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
|
Abnormality of the eye
|
184 |
116 |
C0024796 |
Marfan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
130 |
1012 |
C0241240 |
Tall stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
79 |
14 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
59 |
442 |
C1858556 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
36 |
31 |
C0856747 |
Aneurysm of ascending aorta
|
phenotype |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
Abnormality of the cardiovascular system
|
34 |
16 |
C1844820 |
Range of joint movement increased
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
30 |
46 |
C0265287 |
Acromicric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
21 |
31 |
C1869115 |
Weill-Marchesani Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease
|
|
3 |
23 |
C3280054 |
GELEOPHYSIC DYSPLASIA 2
|
disease |
|
Disease or Syndrome
|
|
|
1 |
27 |
C4310796 |
MARFAN LIPODYSTROPHY SYNDROME
|
disease |
|
Disease or Syndrome
|
|
|
1 |
27 |
C1861456 |
Stiff Skin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
26 |
C3541518 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
24 |