Otospondylomegaepiphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
5
|
1.000 |
definitive |
1.000 |
23 |
4
|
1964 |
2015 |
Deafness, Autosomal Dominant 13
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
3
|
0.930 |
None |
1.000 |
8 |
3
|
1964 |
2016 |
Pierre Robin syndrome with fetal chondrodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
3
|
1
|
0.820 |
definitive |
1.000 |
18 |
1
|
1964 |
2015 |
Deafness, Autosomal Recessive 53
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
4
|
0.710 |
None |
1.000 |
5 |
4
|
1964 |
2015 |
Stickler syndrome, type 3
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
4
|
0.600 |
None |
1.000 |
1 |
4
|
2004 |
2004 |
Fibrochondrogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
3
|
|
0.510 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.420 |
strong |
1.000 |
2 |
|
2003 |
2010 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.410 |
None |
1.000 |
2 |
1
|
2006 |
2007 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.400 |
moderate |
1.000 |
6 |
1
|
1999 |
2015 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.320 |
strong |
1.000 |
3 |
1
|
1998 |
2012 |
Stickler syndrome, type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
27
|
0.300 |
None |
1.000 |
15 |
|
1994 |
2015 |
FIBROCHONDROGENESIS 2
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
1998 |
2012 |
Cartilage Diseases
|
group |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
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 |
|
2006 |
2006 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Limb Deformities, Congenital
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
59
|
4
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Chondromalacia
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Sensory hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
limited |
1.000 |
1 |
|
2004 |
2004 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
STICKLER SYNDROME, TYPE II (disorder)
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
9
|
0.210 |
None |
1.000 |
3 |
|
1999 |
2001 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.200 |
None |
1.000 |
2 |
|
1999 |
2001 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.150 |
None |
1.000 |
5 |
|
2005 |
2019 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.110 |
None |
1.000 |
3 |
3
|
2007 |
2011 |