Exanthema
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
251
|
14
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.050 |
None |
1.000 |
5 |
|
1997 |
2013 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.040 |
None |
1.000 |
4 |
3
|
2001 |
2009 |
Inherited hearing loss
|
disease |
|
Disease or Syndrome
|
13
|
|
0.040 |
None |
1.000 |
4 |
|
2000 |
2009 |
Nodular Sclerosis Classical Hodgkin Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
66
|
22
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2019 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2009 |
Dominant sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
1
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2001 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2015 |
Hyperkeratosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
176
|
19
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1175
|
145
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malignant neoplasm of thyroid
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
949
|
103
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Benign Familial Convulsion
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
7
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Profound hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
7
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Long QT Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
105
|
349
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Skin Diseases, Genetic
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
57
|
6
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hearing loss, sensorineural (high frequency)
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Skin lesion
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
563
|
52
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |