Leri-Weill dyschondrosteosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
9
|
0.800 |
None |
0.962 |
78 |
9
|
1999 |
2019 |
Langer Mesomelic Dysplasia Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
4
|
0.800 |
None |
0.958 |
24 |
3
|
2000 |
2019 |
SHORT STATURE, IDIOPATHIC, X-LINKED
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
18
|
8
|
0.710 |
None |
1.000 |
1 |
6
|
2017 |
2017 |
Radial bowing
|
phenotype |
|
Anatomical Abnormality
|
19
|
2
|
0.400 |
strong |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
limited |
|
0 |
|
|
|
Dorsolateral bowed, short radii
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.200 |
None |
1.000 |
69 |
1
|
1997 |
2019 |
Madelung Deformity
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
8
|
2
|
0.200 |
None |
1.000 |
19 |
1
|
2000 |
2018 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Acquired cubitus valgus
|
disease |
|
Acquired Abnormality
|
35
|
1
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Patellar aplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
17
|
3
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Mesomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
27
|
4
|
0.110 |
None |
1.000 |
1 |
1
|
2003 |
2003 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.100 |
None |
0.950 |
40 |
|
1997 |
2019 |
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Abnormal metatarsal morphology
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Disproportionate short-limb short stature
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Limited elbow movement
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Short tibia
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Dorsal subluxation of ulna
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|