ACNE INVERSA, FAMILIAL, 3
|
disease |
|
Disease or Syndrome
|
1
|
15
|
0.400 |
None |
1.000 |
62 |
15
|
1995 |
2018 |
Cardiomyopathy, Dilated, 1u
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
5 |
3
|
2006 |
2017 |
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
4 |
|
1997 |
2006 |
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
4 |
2
|
1997 |
2006 |
Colagenosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bilateral wrist flexion contracture
|
phenotype |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Optic ataxia
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Prosopagnosia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Perifolliculitis
|
disease |
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Limb apraxia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Subcortical dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Inappropriate sexual behavior
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cotton wool plaques
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
4
|
|
0.100 |
None |
1.000 |
12 |
|
2001 |
2013 |
Chronic furunculosis
|
disease |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hidradenitis suppurativa, familial
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
|
0.310 |
None |
1.000 |
2 |
|
2010 |
2014 |
Flexion contracture-shoulder
|
disease |
|
Acquired Abnormality
|
5
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Poor short-term memory
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
5
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Aphasia, Expressive
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
COWDEN-LIKE SYNDROME (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dysexecutive syndrome
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Sporadic Cerebral Amyloid Angiopathy
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Pontocerebellar atrophy
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |