GRISCELLI SYNDROME, TYPE 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
11
|
0.800 |
None |
1.000 |
28 |
11
|
2000 |
2019 |
Hypopigmentation-immunodeficiency disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
14
|
3
|
0.500 |
strong |
1.000 |
21 |
1
|
2000 |
2015 |
Lymphohistiocytosis, Hemophagocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
117
|
13
|
0.300 |
None |
0.923 |
13 |
1
|
2000 |
2016 |
Acrocephalopolydactylous Dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
2
|
|
0.300 |
strong |
1.000 |
1 |
|
2008 |
2008 |
Platelet Storage Pool Deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
1
|
0.210 |
None |
1.000 |
5 |
|
1997 |
2001 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
9
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
126
|
15
|
0.130 |
None |
1.000 |
3 |
|
1997 |
2011 |
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
3097
|
353
|
0.130 |
None |
1.000 |
3 |
1
|
2012 |
2019 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.120 |
None |
1.000 |
2 |
|
2003 |
2013 |
Histiocytosis haematophagic
|
disease |
|
Disease or Syndrome
|
36
|
2
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.100 |
None |
1.000 |
12 |
|
2008 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.909 |
11 |
|
2010 |
2019 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.100 |
None |
1.000 |
10 |
|
2008 |
2019 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.100 |
None |
|
0 |
|
|
|
Petechiae of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellum
|
group |
Nervous System Diseases
|
Finding
|
55
|
11
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Silver-gray hair
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced delayed hypersensitivity
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Accumulation of melanosomes in melanocytes
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Melanin pigment aggregation in hair shafts
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|