Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
12 |
2
|
1993 |
2015 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
4
|
0.770 |
None |
1.000 |
12 |
4
|
1993 |
2019 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.200 |
None |
1.000 |
11 |
3
|
2010 |
2020 |
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
6
|
0.740 |
strong |
1.000 |
11 |
6
|
1993 |
2019 |
Phosphoribosylpyrophosphate Synthetase Superactivity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
7
|
0.710 |
limited |
1.000 |
11 |
7
|
1993 |
2017 |
DEAFNESS, X-LINKED 1 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
7
|
0.740 |
strong |
1.000 |
10 |
7
|
1993 |
2016 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2018 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2020 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.320 |
None |
1.000 |
2 |
|
2018 |
2019 |
Childhood Acute Lymphoblastic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1096
|
261
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2004 |
Hyperuricemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
196
|
76
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2017 |
Optic Neuropathy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
8
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2019 |
X-linked hereditary motor and sensory neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
1
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2013 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
985
|
59
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Acute lymphocytic leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1293
|
222
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Progeria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
118
|
41
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hereditary peripheral neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |