Hermanski-Pudlak Syndrome
|
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
|
70
|
59
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Hantavirus Infections
|
group |
Infections
|
Disease or Syndrome
|
108
|
10
|
0.020 |
None |
1.000 |
2 |
|
1988 |
1993 |
Platelet Storage Pool Deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Spastic
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1296
|
609
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Hyperhomocysteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
246
|
45
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
MASA SYNDROME (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
16
|
13
|
0.030 |
None |
1.000 |
3 |
|
1995 |
1999 |
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Demyelinating Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
5
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Spastic Ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
28
|
3
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.030 |
None |
0.667 |
3 |
|
1996 |
2002 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2002 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |