Congenital osteodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Short forearm
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
SHOX-related short stature
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Dorsal subluxation of ulna
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Dorsolateral bowed, short radii
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Broad ulna
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal metatarsal morphology
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Lowry Wood syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
|
0.050 |
None |
1.000 |
5 |
|
2000 |
2012 |
Rudimentary fibula
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Mesomelic short stature
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Shortening of the tibia
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Forearm undergrowth
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Increased carrying angle
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Mesomelic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Limited wrist movement
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Mesomelic/rhizomelic limb shortening
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Episodic ketoacidosis
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the fibula
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Aromatase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
13
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Hypoplasia of lower limb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
6
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the carpal bones
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Short Stature Homeobox Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2016 |
Sex Chromosome Aberrations
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome; Congenital Abnormality
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Abnormality of calvarial morphology
|
phenotype |
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|