Carnevale syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.700 |
strong |
1.000 |
4 |
2
|
1989 |
2017 |
Craniofacial ulnar renal syndrome
|
disease |
|
Disease or Syndrome
|
3
|
|
0.330 |
None |
1.000 |
4 |
|
2011 |
2016 |
Pigmentation Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Incontinentia Pigmenti Achromians
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
67
|
10
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Schamberg Disease
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Oculopalatoskeletal syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
6
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malpuech facial clefting syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
AIDS, PROGRESSION TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Interleukin 19 Measurement
|
phenotype |
|
Laboratory Procedure
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
149
|
527
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Interleukin 1 Beta Measurement
|
phenotype |
|
Laboratory Procedure
|
11
|
149
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Viral Load result
|
phenotype |
|
Finding
|
65
|
91
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
HIV-1, RESISTANCE TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Fibrinogen assay
|
phenotype |
|
Laboratory Procedure
|
55
|
143
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
3
|
2018 |
2018 |
Downturned corners of mouth
|
phenotype |
|
Anatomical Abnormality
|
122
|
14
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vertebral morphology
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Epicanthus inversus
|
phenotype |
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the vertebral column
|
phenotype |
|
Anatomical Abnormality
|
24
|
5
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|