Extraskeletal Myxoid Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
50
|
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2004 |
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Spindle cell hemangioma
|
disease |
Neoplasms
|
Neoplastic Process
|
68
|
10
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
69
|
4
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Tented upper lip vermilion
|
phenotype |
|
Finding
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Subfertility
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
91
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Moyamoya disease 1
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
92
|
50
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
Choanal Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
104
|
7
|
0.100 |
None |
|
0 |
|
|
|
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.700 |
strong |
1.000 |
28 |
|
1996 |
2018 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Moyamoya Disease
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
117
|
50
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Condition, Preneoplastic
|
disease |
Neoplasms
|
Neoplastic Process
|
122
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital defects
|
group |
|
Congenital Abnormality
|
126
|
6
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Bronchioloalveolar Adenocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
136
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.100 |
None |
|
0 |
|
|
|
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
|
0 |
|
|
|