NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
4 |
3
|
2014 |
2018 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 12
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Coenzyme A synthase protein associated neurodegeneration
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
2 |
|
2014 |
2016 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.140 |
None |
1.000 |
4 |
|
2010 |
2019 |
Pseudohypoparathyroidism, Type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
20
|
0.100 |
None |
1.000 |
10 |
|
1986 |
2015 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Toe-walking gait
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Muscle Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
320
|
25
|
0.100 |
None |
|
0 |
|
|
|
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.100 |
None |
|
0 |
|
|
|
Bradykinesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
133
|
16
|
0.100 |
None |
|
0 |
|
|
|
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Obsessive compulsive behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
94
|
16
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Abnormal caudate nucleus morphology
|
phenotype |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Eye of the tiger anomaly of globus pallidus
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of thalamus morphology
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|