Metatropic dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1
|
19
|
0.800 |
None |
1.000 |
15 |
19
|
2009 |
2020 |
Spondylometaphyseal dysplasia, Kozlowski type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
11
|
0.760 |
None |
0.857 |
7 |
11
|
2009 |
2017 |
Brachyolmia Type 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
3
|
0.760 |
None |
1.000 |
7 |
3
|
2008 |
2014 |
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
6
|
0.700 |
None |
1.000 |
3 |
6
|
2010 |
2012 |
Parastremmatic dwarfism
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
1
|
2
|
0.730 |
None |
1.000 |
3 |
2
|
2010 |
2012 |
Charcot-Marie-Tooth disease, Type 2C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2020 |
Digital Arthropathy-Brachydactyly, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
4
|
0.710 |
None |
1.000 |
2 |
4
|
2011 |
2019 |
Tissue Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Osteoarthropathy of fingers familial
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Sexually disinhibited behavior
|
phenotype |
|
Finding
|
1
|
|
0.300 |
limited |
1.000 |
1 |
|
2012 |
2012 |
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
5
|
0.710 |
None |
1.000 |
1 |
5
|
2010 |
2010 |
Metatropic Dysplasia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Brachytelomesophalangy
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Severe carpal ossification delay
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Childhood-onset short-trunk short stature
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
|
phenotype |
|
Finding
|
1
|
1
|
0.600 |
moderate |
|
0 |
1
|
|
|
Relatively short spine
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Long coccyx
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Halberd-shaped pelvis
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperplasia of the femoral trochanters
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Dumbbell-shaped metaphyses
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Absent primary metaphyseal spongiosa
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal metaphyseal vascular invasion
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Shortening of all middle phalanges of the toes
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Nonprogressive muscular atrophy
|
disease |
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|