Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Protrusion of tongue
|
phenotype |
|
Finding
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
239
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
239
|
16
|
0.100 |
None |
|
0 |
|
|
|
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Communicating Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bronchitis, Chronic
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
118
|
9
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Round face
|
phenotype |
|
Finding
|
88
|
3
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1032
|
33
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2017 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2007 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2017 |
Humoral immunodeficiency
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
9
|
4
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
3
|
15
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |