WAARDENBURG SYNDROME, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
7
|
26
|
1.000 |
None |
1.000 |
33 |
21
|
1967 |
2019 |
Tietz syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
5
|
0.940 |
None |
1.000 |
15 |
5
|
1967 |
2016 |
Waardenburg Syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
2
|
0.800 |
definitive |
1.000 |
23 |
1
|
1994 |
2019 |
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.710 |
None |
1.000 |
3 |
4
|
1994 |
2016 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.700 |
None |
0.974 |
194 |
7
|
2002 |
2020 |
Waardenburg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
21
|
8
|
0.700 |
strong |
0.971 |
35 |
5
|
1994 |
2020 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
disease |
|
Finding
|
2
|
2
|
0.700 |
None |
1.000 |
13 |
1
|
2011 |
2019 |
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
|
disease |
|
Disease or Syndrome
|
2
|
14
|
0.700 |
None |
1.000 |
8 |
1
|
1967 |
2016 |
Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
507
|
248
|
0.630 |
None |
1.000 |
4 |
1
|
2011 |
2017 |
Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2084
|
288
|
0.500 |
None |
1.000 |
14 |
2
|
2003 |
2019 |
Papillary Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
223
|
3
|
0.500 |
None |
1.000 |
1 |
|
2011 |
2011 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2346
|
222
|
0.400 |
None |
1.000 |
12 |
2
|
2009 |
2019 |
Albinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
46
|
27
|
0.330 |
None |
1.000 |
9 |
1
|
1967 |
2019 |
Pigmentation Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
|
0.310 |
None |
1.000 |
2 |
|
1997 |
2017 |
WAARDENBURG SYNDROME, TYPE 4A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
12
|
11
|
0.310 |
None |
1.000 |
2 |
|
2019 |
2019 |
Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.310 |
None |
1.000 |
2 |
|
1997 |
2017 |
Familial Atypical Mole Melanoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
30
|
3
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Bilateral Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Ocular albinism with congenital sensorineural deafness
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Incontinentia Pigmenti Achromians
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
67
|
10
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
WAARDENBURG SYNDROME, TYPE IIE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
5
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Hearing Loss, Extreme
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Albinism, Yellow-Mutant
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Albinism, Tyrosinase-Positive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Albinism, Tyrosinase-Negative
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |