SEBASTIAN SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
13
|
1.000 |
definitive |
0.984 |
61 |
13
|
1998 |
2019 |
May-Hegglin anomaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
19
|
1.000 |
definitive |
1.000 |
44 |
17
|
1998 |
2020 |
DEAFNESS, AUTOSOMAL DOMINANT 17
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.710 |
None |
1.000 |
11 |
2
|
1998 |
2016 |
Fechtner syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.570 |
definitive |
1.000 |
18 |
2
|
1998 |
2015 |
Epstein syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.560 |
definitive |
1.000 |
17 |
1
|
1998 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.540 |
None |
1.000 |
5 |
|
2008 |
2018 |
Other primary thrombocytopenia
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.500 |
definitive |
1.000 |
11 |
|
1998 |
2015 |
Giant Platelet Syndrome with Thrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
definitive |
1.000 |
11 |
|
1998 |
2015 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.490 |
strong |
0.900 |
10 |
6
|
2000 |
2019 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.400 |
None |
0.952 |
21 |
5
|
2008 |
2015 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.400 |
None |
0.950 |
20 |
|
2003 |
2012 |
Leukocyte inclusion bodies
|
phenotype |
|
Finding
|
1
|
|
0.400 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.400 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.380 |
strong |
1.000 |
9 |
4
|
2004 |
2017 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.350 |
strong |
1.000 |
6 |
1
|
2000 |
2012 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.340 |
None |
1.000 |
5 |
|
2008 |
2018 |
Nodular fasciitis
|
disease |
Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
25
|
|
0.320 |
None |
1.000 |
3 |
|
2011 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.320 |
None |
0.500 |
2 |
|
2008 |
2010 |
Alport Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
8
|
0.310 |
None |
1.000 |
2 |
|
2000 |
2012 |
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.310 |
None |
1.000 |
2 |
|
2000 |
2003 |
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.310 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Neoplasm Invasiveness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Pathologic Function
|
193
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Renal hypertension
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
36
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hyalinosis, Segmental Glomerular
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |