Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
11
|
0.920 |
None |
1.000 |
11 |
11
|
1969 |
2015 |
Spondylodysplasia And Premature Pubarche
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
3 |
|
1969 |
1998 |
Spondyloepimetaphyseal disorder
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
37
|
2
|
0.130 |
None |
1.000 |
3 |
|
1998 |
2005 |
Precocious pubarche
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
30
|
11
|
0.130 |
None |
1.000 |
3 |
|
2009 |
2019 |
Brachyolmia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
3
|
0.130 |
None |
1.000 |
3 |
1
|
2012 |
2019 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2018 |
Polycystic Ovary Syndrome
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
988
|
363
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2015 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Osteoarthritis, Knee
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
368
|
150
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Anovulatory (finding)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
55
|
8
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Pyle metaphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
5
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Anovulation
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
32
|
8
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hyperandrogenism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
108
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Diastrophic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
63
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Irregular vertebral endplates
|
phenotype |
|
Finding
|
24
|
2
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Secondary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|