Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.930 |
None |
1.000 |
13 |
7
|
1998 |
2018 |
Waardenburg Syndrome, Type 4c
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
2
|
22
|
0.900 |
definitive |
1.000 |
17 |
22
|
1990 |
2017 |
WAARDENBURG SYNDROME, TYPE IIE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
5
|
0.700 |
None |
1.000 |
5 |
5
|
1998 |
2011 |
Waardenburg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
21
|
8
|
0.600 |
strong |
0.974 |
38 |
|
1998 |
2019 |
Waardenburg Syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
2
|
0.570 |
None |
1.000 |
9 |
|
2007 |
2017 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.550 |
None |
1.000 |
5 |
|
2013 |
2019 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.500 |
None |
1.000 |
39 |
2
|
1997 |
2019 |
WAARDENBURG SYNDROME, TYPE 4A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
12
|
11
|
0.500 |
None |
0.971 |
34 |
3
|
1998 |
2019 |
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.450 |
None |
1.000 |
5 |
1
|
2006 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.380 |
None |
1.000 |
8 |
2
|
2005 |
2014 |
Yemenite deaf-blind hypopigmentation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
3
|
0.330 |
strong |
1.000 |
4 |
3
|
1999 |
2012 |
Early onset schizophrenia
|
disease |
|
Mental or Behavioral Dysfunction
|
15
|
3
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
Other sphingolipidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
WAARDENBURG SYNDROME, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
7
|
26
|
0.140 |
None |
1.000 |
5 |
4
|
2012 |
2019 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.130 |
None |
1.000 |
3 |
2
|
2001 |
2018 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Sense of smell impaired
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
60
|
12
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.110 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.100 |
None |
1.000 |
36 |
|
2007 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
27 |
|
2005 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
1.000 |
10 |
|
2004 |
2018 |
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|