Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.330 |
None |
1.000 |
3 |
|
2010 |
2018 |
Renal dysplasia and retinal aplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.510 |
strong |
1.000 |
3 |
|
2011 |
2013 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Malignant Head and Neck Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
767
|
118
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cystic kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
89
|
1
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Orofaciodigital Syndrome I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
108
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
1543
|
348
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Head and Neck Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
786
|
118
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Orofaciodigital Syndromes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
19
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Renal cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
170
|
17
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
|
0 |
|
|
|
Recurrent otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
120
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of bone mineral density
|
disease |
|
Anatomical Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of ovary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.100 |
None |
|
0 |
|
|
|