Hypohidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
176
|
19
|
0.100 |
None |
|
0 |
|
|
|
Paralysis, Unilateral, Vocal Cord
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.120 |
None |
1.000 |
2 |
|
1996 |
2019 |
Hemiplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.100 |
None |
|
0 |
|
|
|
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
209
|
37
|
0.700 |
None |
1.000 |
3 |
1
|
2009 |
2019 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
X-linked intellectual disability Van Esch type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
5
|
0.100 |
None |
1.000 |
1 |
5
|
2019 |
2019 |
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
1
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Hernia, Inguinal
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
225
|
21
|
0.100 |
None |
|
0 |
|
|
|
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Increased circulating gonadotropin level
|
phenotype |
Nervous System Diseases; Endocrine System Diseases
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Diffuse Large B-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1043
|
127
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Anaplastic Oligodendroglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
66
|
7
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |