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 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
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 |
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 |
Precocious pubarche
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
30
|
11
|
0.130 |
None |
1.000 |
3 |
|
2009 |
2019 |
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 |
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of lower limb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
6
|
3
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Secondary amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
49
|
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0702166 |
Disease: |
Acne
|
Acne
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
167
|
11
|
0.100 |
None |
|
0 |
|
|
|
Secondary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Lumbar scoliosis
|
disease |
|
Disease or Syndrome
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
88
|
17
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Irregular vertebral endplates
|
phenotype |
|
Finding
|
24
|
2
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
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 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2018 |
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 |