Hip Contracture
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture - elbow
|
disease |
|
Acquired Abnormality
|
73
|
14
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture - wrist
|
disease |
|
Acquired Abnormality
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Narrow maxilla
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the lumbar spine
|
phenotype |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bilateral external ear deformity
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal upper motor neuron morphology
|
disease |
|
Anatomical Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of jaw muscles
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.300 |
None |
1.000 |
3 |
|
2012 |
2017 |
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.430 |
None |
1.000 |
7 |
1
|
2012 |
2019 |
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
|
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
|
1
|
3
|
0.700 |
None |
1.000 |
5 |
3
|
2011 |
2018 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.040 |
None |
1.000 |
4 |
|
2011 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Papillon-Lefevre Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
29
|
19
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Sensory neuropathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
116
|
15
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pure hereditary spastic paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Troyer syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
4
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Primary lateral sclerosis juvenile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
5
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
Motor neuron atrophy
|
disease |
|
Disease or Syndrome
|
138
|
21
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.100 |
None |
|
0 |
|
|
|