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 |
Weyers acrofacial dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
21
|
0.720 |
None |
1.000 |
7 |
9
|
2000 |
2018 |
Vertical Talus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
69
|
20
|
0.100 |
None |
|
0 |
2
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
2
|
|
|
Ulnar polydactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
92
|
11
|
0.100 |
None |
|
0 |
|
|
|
Toenail dysplasia
|
phenotype |
|
Finding
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Thoracic hypoplasia
|
disease |
|
Congenital Abnormality
|
32
|
16
|
0.100 |
None |
|
0 |
2
|
|
|
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Synostosis of carpal bones
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of the toes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
129
|
11
|
0.100 |
None |
|
0 |
2
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
|
0 |
|
|
|
Single transverse palmar crease
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
78
|
14
|
0.100 |
None |
|
0 |
2
|
|
|
Short thorax
|
phenotype |
|
Finding
|
51
|
8
|
0.100 |
None |
|
0 |
|
|
|
Short ribs
|
phenotype |
|
Finding
|
60
|
27
|
0.100 |
None |
|
0 |
2
|
|
|
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
|
0 |
|
|
|
Short long bone
|
phenotype |
|
Finding
|
42
|
19
|
0.100 |
None |
|
0 |
2
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Renal hypoplasia/aplasia
|
phenotype |
|
Finding
|
73
|
2
|
0.100 |
None |
|
0 |
|
|
|
Prominent antihelix
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Premature tooth eruption
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|