Coffin-Lowry syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
23
|
25
|
1.000 |
definitive |
0.983 |
59 |
25
|
1996 |
2020 |
Mental Retardation, X-Linked 19
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
9
|
0.710 |
strong |
1.000 |
3 |
9
|
1996 |
2006 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.400 |
None |
0.909 |
11 |
|
2010 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.380 |
None |
1.000 |
8 |
1
|
2012 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.330 |
None |
1.000 |
4 |
|
2012 |
2020 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.310 |
None |
1.000 |
2 |
|
1999 |
2006 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Neoplasm Invasiveness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Pathologic Function
|
193
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
98
|
8
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
Developmental Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.300 |
None |
|
0 |
|
|
|
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
453
|
235
|
0.300 |
None |
|
0 |
1
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.170 |
None |
1.000 |
7 |
|
2002 |
2019 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.110 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.100 |
None |
1.000 |
13 |
|
2009 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
13 |
|
2010 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
11 |
|
2011 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
11 |
1
|
2001 |
2015 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
11 |
3
|
2001 |
2015 |