Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.550 |
None |
1.000 |
5 |
|
2011 |
2018 |
CRANIOECTODERMAL DYSPLASIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
12
|
0.630 |
None |
1.000 |
4 |
|
2011 |
2018 |
Cranioectodermal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
11
|
22
|
0.130 |
None |
1.000 |
3 |
4
|
2011 |
2018 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
160
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mainzer-Saldino Disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
20
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Camurati-Engelmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
34
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kartagener Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
67
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
8 |
5
|
2010 |
2017 |
SENIOR-LOKEN SYNDROME 8
|
disease |
|
Disease or Syndrome
|
1
|
15
|
0.600 |
strong |
1.000 |
6 |
15
|
2011 |
2017 |
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.430 |
strong |
1.000 |
3 |
2
|
2011 |
2017 |
Renal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
95
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
NEPHRONOPHTHISIS 13
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.610 |
None |
1.000 |
6 |
6
|
2011 |
2016 |
Caroli Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
8
|
1
|
0.120 |
None |
1.000 |
2 |
1
|
2013 |
2015 |
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
116
|
0.610 |
strong |
1.000 |
3 |
11
|
2011 |
2014 |
CRANIOECTODERMAL DYSPLASIA 4
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.600 |
None |
1.000 |
3 |
2
|
2010 |
2014 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2014 |
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
|
0.520 |
strong |
1.000 |
2 |
|
2013 |
2014 |
Streptococcal lymphadenitis of swine
|
disease |
Infections; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
13
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Sjogren-Larsson Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
28
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Kaposi Sarcoma
|
disease |
Neoplasms; Infections
|
Neoplastic Process
|
488
|
15
|
0.080 |
None |
1.000 |
8 |
|
1997 |
2012 |
Nephronophthisis, familial juvenile
|
disease |
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |