Mucopolysaccharidosis III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
15
|
0.850 |
None |
1.000 |
11 |
4
|
1999 |
2019 |
MPS III B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
92
|
0.800 |
None |
0.984 |
61 |
92
|
1982 |
2019 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.700 |
limited |
1.000 |
12 |
7
|
1996 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
None |
1.000 |
2 |
|
1998 |
2011 |
Mucopolysaccharidosis Type IIIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
69
|
0.400 |
None |
1.000 |
11 |
2
|
2001 |
2018 |
MPS III D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
5
|
0.330 |
None |
1.000 |
3 |
|
2007 |
2016 |
MPS III C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
38
|
0.320 |
None |
1.000 |
2 |
|
2011 |
2016 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2011 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Prostatic Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
1722
|
31
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
175
|
8
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.120 |
None |
1.000 |
2 |
2
|
1992 |
1998 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.110 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.110 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.110 |
None |
1.000 |
1 |
2
|
1996 |
1996 |
Mucopolysaccharidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
48
|
7
|
0.100 |
None |
1.000 |
23 |
1
|
2000 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
4 |
2
|
2005 |
2015 |
Hypersexuality state
|
disease |
Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
8
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
2
|
|
|
Coarse hair
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Memory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
763
|
48
|
0.100 |
None |
|
0 |
2
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Asymmetric Septal Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|