Breathing abnormally deep
|
phenotype |
Respiratory Tract Diseases
|
Sign or Symptom
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.100 |
None |
|
0 |
|
|
|
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.100 |
None |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.100 |
None |
|
0 |
|
|
|
Mainzer-Saldino Disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
20
|
0.510 |
strong |
1.000 |
1 |
|
2013 |
2013 |
CUI: |
C0013604 |
Disease: |
Edema
|
Edema
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
126
|
1
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Atypical scarring of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
101
|
1
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
|
0 |
|
|
|
Nijmegen Breakage Syndrome
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
94
|
144
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.100 |
None |
|
0 |
|
|
|
Leukemia, T-Cell
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
457
|
10
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Adult T-Cell Lymphoma/Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
540
|
11
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Solid Neoplasm
|
phenotype |
Neoplasms
|
Neoplastic Process
|
1145
|
24
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |