Muscle damage
|
phenotype |
|
Acquired Abnormality
|
163
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture - elbow
|
disease |
|
Acquired Abnormality
|
73
|
14
|
0.100 |
None |
|
0 |
|
|
|
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
1
|
|
|
Foot Deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
66
|
5
|
0.100 |
None |
|
0 |
|
|
|
Knee joint valgus deformity
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
117
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Tapered toe
|
disease |
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of nervous system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Anatomical Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperextensibility at elbow
|
phenotype |
|
Anatomical Abnormality
|
11
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Double ureter
|
disease |
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
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 |
|
|
|
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Carnitine palmitoyl transferase 2 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
29
|
0.500 |
definitive |
1.000 |
62 |
29
|
1989 |
2019 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
54
|
0.710 |
None |
1.000 |
46 |
54
|
1992 |
2016 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
36
|
0.700 |
None |
1.000 |
25 |
36
|
1992 |
2015 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
24
|
0.700 |
None |
1.000 |
15 |
24
|
1998 |
2016 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.070 |
None |
1.000 |
7 |
|
1999 |
2018 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.440 |
None |
1.000 |
5 |
1
|
1999 |
2018 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.150 |
None |
1.000 |
5 |
4
|
2005 |
2011 |
Acute encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
31
|
3
|
0.050 |
None |
1.000 |
5 |
1
|
2011 |
2019 |