Schamberg Disease
phenotype
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Disease or Syndrome
6
0.300
None
1.000
1
1997
1997
Complete Hearing Loss
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Finding
20
0.300
None
1.000
1
1997
1997
Deafness
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Finding
62
37
0.300
None
1.000
1
1997
1997
Chromophobe Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
185
2
0.300
None
1.000
1
2011
2011
Neoplastic Cell Transformation
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
143
0.300
None
1.000
1
2015
2015
Deaf Mutism
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
20
0.300
None
1.000
1
1997
1997
Hereditary Paraganglioma-Pheochromocytoma Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Disease or Syndrome
23
98
0.300
limited
1.000
1
2016
2016
Sarcomatoid Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
134
0.300
None
1.000
1
2011
2011
Clear cell papillary renal cell carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
19
0.300
None
1.000
1
2011
2011
Deafness, Acquired
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
20
0.300
None
1.000
1
1997
1997
Prelingual Deafness
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
22
2
0.300
None
1.000
1
1997
1997
Collecting Duct Carcinoma of the Kidney
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
162
0.300
None
1.000
1
2011
2011
Osteopetrosis
disease
Musculoskeletal Diseases
Disease or Syndrome
74
5
0.300
None
0
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
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; Congenital Abnormality
3
2
0.300
None
0
1
Waardenburg Syndrome Type 1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Disease or Syndrome
16
46
0.300
None
0
2
Microphthalmos
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
337
40
0.200
None
1.000
12
1
1994
2019
Camurati-Engelmann Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
34
10
0.200
None
1.000
1
2002
2002
Hypopigmentation disorder
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
126
15
0.160
None
1.000
6
2
1998
2019
×
CUI:
C0027960
Disease:
Nevus
Nevus
disease
Neoplasms
Neoplastic Process
125
43
0.120
None
1.000
2
1
2014
2017
Albinism, Ocular
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
Congenital Abnormality
37
10
0.120
None
1.000
2
1
2009
2019
Mammary Neoplasms
group
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
2780
385
0.110
None
1.000
1
2019
2019
Sensorineural Hearing Loss (disorder)
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
783
111
0.110
None
1.000
1
2018
2018
Hirschsprung Disease
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Disease or Syndrome
384
162
0.110
None
1.000
1
2012
2012
Neoplasms
group
Neoplasms
Neoplastic Process
10161
1644
0.100
None
1.000
41
1
2002
2020
Neoplastic Syndromes, Hereditary
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Neoplastic Process
88
6387
0.100
None
1.000
22
1
1987
2016