SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
8 |
5
|
2010 |
2017 |
NEPHRONOPHTHISIS 13
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.610 |
None |
1.000 |
6 |
6
|
2011 |
2016 |
SENIOR-LOKEN SYNDROME 8
|
disease |
|
Disease or Syndrome
|
1
|
15
|
0.600 |
strong |
1.000 |
6 |
15
|
2011 |
2017 |
Small eyes
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
CRANIOECTODERMAL DYSPLASIA 4
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.600 |
None |
1.000 |
3 |
2
|
2010 |
2014 |
Echogenic kidneys
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Short iliac bones
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Short rib-polydactyly syndrome, Beemer type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Thoracic dysplasia
|
disease |
|
Congenital Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
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 |
Broad distal phalanx of finger
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Abnormal diaphysis morphology
|
disease |
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Pyogenic granuloma
|
disease |
Pathological Conditions, Signs and Symptoms
|
Neoplastic Process
|
13
|
4
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Streptococcal lymphadenitis of swine
|
disease |
Infections; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
13
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Syndactyly, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
15
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Nephronophthisis, familial juvenile
|
disease |
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Broad phalanx of the toes
|
phenotype |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic interstitial nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Human herpesvirus 8 infection
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
19
|
2
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
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 |
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 |
Abnormality of bone mineral density
|
disease |
|
Anatomical Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|