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 |
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 |
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 |
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 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.450 |
strong |
1.000 |
6 |
2
|
1996 |
2015 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.400 |
strong |
1.000 |
1 |
4
|
2018 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.320 |
None |
1.000 |
2 |
|
2018 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Weight Gain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
12
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
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 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.130 |
None |
1.000 |
3 |
2
|
2007 |
2019 |
Hyperuricemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
196
|
76
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2017 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
12 |
2
|
1993 |
2015 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
12 |
1
|
1993 |
2015 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
12 |
1
|
1993 |
2015 |
Nonsyndromic sensorineural hearing loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
5-minute APGAR score of 1
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the optic nerve
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated amniotic fluid alpha-fetoprotein
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|