OSTEOGENESIS IMPERFECTA, TYPE XV
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.700 |
None |
1.000 |
6 |
7
|
1990 |
2017 |
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
|
phenotype |
|
Finding
|
1
|
3
|
0.400 |
None |
1.000 |
1 |
3
|
1990 |
1990 |
Osteoporosis in children
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Tongue absent
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Juvenile osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Bowing of limbs due to multiple fractures
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dissociative disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
6
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Transfusion dependent anaemia
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Beading of ribs
|
disease |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Schizencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
10
|
6
|
0.100 |
None |
|
0 |
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
12
|
65
|
0.310 |
None |
1.000 |
2 |
|
2013 |
2015 |
Endometrial Polyp
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Prieto X-linked mental retardation syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
X-linked sideroblastic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
16
|
23
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Osteogenesis imperfecta type III (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
67
|
0.320 |
None |
1.000 |
3 |
|
2013 |
2017 |
Helicobacter Infections
|
group |
Infections
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cleft palate and bilateral cleft lip
|
disease |
|
Congenital Abnormality
|
18
|
10
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Lentigo
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Adenoma, Villous
|
disease |
Neoplasms
|
Neoplastic Process
|
20
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Myotonia Fluctuans (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mammary gland tumor
|
disease |
|
Neoplastic Process
|
22
|
2
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Chloasma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gastric dysplasia
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Compression fracture of vertebral column
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries
|
Pathologic Function
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|