CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
|
disease |
Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
45
|
9
|
0.990 |
strong |
1.000 |
11 |
6
|
1999 |
2018 |
Calcium pyrophosphate arthropathy
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
4
|
0.750 |
strong |
1.000 |
9 |
4
|
1999 |
2012 |
Calcium pyrophosphate deposition disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
34
|
5
|
0.500 |
None |
1.000 |
19 |
2
|
2002 |
2018 |
Schwartz-Lelek syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
3
|
|
0.380 |
None |
1.000 |
11 |
|
2001 |
2017 |
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
54
|
2
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Endometriosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1188
|
274
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Odontome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Endometrioma
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
279
|
4
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
limited |
|
0 |
|
|
|
CRANIOECTODERMAL DYSPLASIA 4
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
2
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
CRANIOECTODERMAL DYSPLASIA 3
|
disease |
|
Disease or Syndrome
|
2
|
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Craniometaphyseal dysplasia, autosomal recessive type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
1
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.150 |
None |
1.000 |
5 |
|
2004 |
2016 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.120 |
None |
1.000 |
2 |
|
2003 |
2004 |
Arthropathy
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
187
|
10
|
0.110 |
None |
1.000 |
1 |
|
2004 |
2004 |
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Pseudogout
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
15
|
5
|
0.100 |
None |
1.000 |
11 |
2
|
2002 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
1.000 |
3 |
3
|
2018 |
2019 |
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2018 |
Amino acids measurement
|
group |
|
Laboratory Procedure
|
53
|
92
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Protein measurement
|
group |
|
Laboratory Procedure
|
75
|
422
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Glaucoma, Open-Angle
|
disease |
Eye Diseases
|
Disease or Syndrome
|
130
|
236
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |