Inflammation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
467
|
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2017 |
Stickler syndrome, type 3
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
4
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2011 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Pseudoaphakia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Spondylometaphyseal dysplasia, 'corner fracture' type
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
|
Disease or Syndrome
|
2
|
5
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Synovial Hypertrophy
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyperplasia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
131
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Lens Opacities
|
phenotype |
Eye Diseases
|
Finding
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Sensory hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Retinal Pigment Epithelial Detachment
|
disease |
Eye Diseases
|
Disease or Syndrome
|
17
|
3
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Bone Resorption
|
phenotype |
Musculoskeletal Diseases
|
Organ or Tissue Function
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Spondylometaphyseal dysplasia, Algerian type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Chondromalacia
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Megaepiphyseal dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Aseptic Necrosis of Femur Head
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Pathologic Function
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Stickler syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
8
|
0.200 |
None |
0.938 |
48 |
3
|
1987 |
2018 |
Cervical Disc Degenerative Disorder
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
1
|
0.200 |
None |
1.000 |
3 |
|
2008 |
2014 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |