Weyers acrofacial dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
21
|
0.100 |
None |
1.000 |
4 |
5
|
2000 |
2018 |
Social Anhedonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
6
|
4
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Aplasia/Hypoplasia involving the pelvis
|
phenotype |
|
Finding
|
8
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Ellis-Van Creveld Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
121
|
0.100 |
None |
1.000 |
7 |
39
|
2000 |
2018 |
Velopharyngeal dysfunction
|
phenotype |
|
Finding
|
18
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Majewski Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
31
|
0.100 |
None |
|
0 |
2
|
|
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
23
|
240
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Wolfram Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
7
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Thoracic hypoplasia
|
disease |
|
Congenital Abnormality
|
32
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Short long bone
|
phenotype |
|
Finding
|
42
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Sepsis-Associated Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
57
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Short ribs
|
phenotype |
|
Finding
|
60
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Vertical Talus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
69
|
20
|
0.100 |
None |
|
0 |
1
|
|
|
Muscle degeneration
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
70
|
3
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Single transverse palmar crease
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
78
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Lafora Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
92
|
32
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fuchs Endothelial Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
94
|
32
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hepatic Encephalopathy
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Brain Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
114
|
11
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Optic Atrophy 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
45
|
0.060 |
None |
1.000 |
6 |
|
2017 |
2018 |
Syndactyly of the toes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
129
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Ischemia of kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
131
|
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
1
|
|
|