MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
5
|
0.600 |
strong |
1.000 |
3 |
5
|
2010 |
2017 |
Renal vasculitis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Lump on thigh
|
phenotype |
|
Sign or Symptom
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
CIC-DUX Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
8
|
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2018 |
Myotonia Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
38
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2006 |
Undifferentiated round cell sarcoma
|
disease |
|
Neoplastic Process
|
9
|
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Sarcoma of kidney
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Sclerosing rhabdomyosarcoma
|
disease |
|
Neoplastic Process
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ewing-like sarcoma
|
disease |
|
Neoplastic Process
|
10
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Round cell tumor
|
disease |
|
Neoplastic Process
|
12
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Small cell osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Generalized Myotonia of Thomsen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
61
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2006 |
Primary immunoglobulin A nephropathy (disorder)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Round cell sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
20
|
|
0.100 |
None |
0.933 |
15 |
|
2013 |
2020 |
Minimal Brain Dysfunction
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
22
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Childhood Oligoastrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
23
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Childhood Epithelioid Hemangioendothelioma
|
disease |
Neoplasms
|
Neoplastic Process
|
26
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Epithelioid Hemangioendothelioma
|
disease |
Neoplasms
|
Neoplastic Process
|
26
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mixed Oligodendroglioma-Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
28
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Epithelioid hemangioendothelioma, malignant
|
disease |
Neoplasms
|
Neoplastic Process
|
29
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Nerve Sheath Tumors
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
31
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adult Desmoplastic Small Round Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
32
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Childhood Desmoplastic Small Round Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
32
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Adult Epithelioid Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
33
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Childhood Epithelioid Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
33
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |