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 |
Salivary Gland Sialoblastoma
|
disease |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Catatrichy
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pigmented actinic keratosis
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Peripheral amyelination
|
disease |
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Long-segment aganglionic megacolon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Transitional cell papilloma, benign
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Demyelinating sensory neuropathy
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Morphological abnormality of the inner ear
|
phenotype |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Dilated vestibule of the inner ear
|
disease |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
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 IIE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
5
|
0.700 |
None |
1.000 |
5 |
5
|
1998 |
2011 |
Syringoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3
|
|
0.030 |
None |
0.333 |
3 |
|
2017 |
2019 |
Diffuse midline glioma, point mutation K27M in histone H3
|
disease |
Neoplasms
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dystopia canthorum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
46,XX SEX REVERSAL 4
|
disease |
|
Congenital Abnormality
|
3
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2004 |
2004 |
Hypoplasia of the semicircular canal
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Spindle Cell Melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Skin Nodular Basal Cell Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Basal cell carcinoma, nodular
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Absent brainstem auditory responses
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Myelin outfoldings
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Dysmyelinating leukodystrophy
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital naevus
|
disease |
|
Neoplastic Process
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |