CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
2
|
0.610 |
strong |
1.000 |
2 |
2
|
2011 |
2015 |
Triangular nasal tip
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital encephalopathy
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Drooping nasal tip
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Intermittent hyperventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Broad fingertip
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dilated superficial abdominal veins
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal large intestine physiology
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated alkaline phosphatase of hepatic origin
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Spider hemangioma
|
disease |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Palmar telangiectasia
|
disease |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Failure of eruption of permanent teeth
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Polyclonal elevation of IgM
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
6
|
1
|
0.020 |
None |
1.000 |
2 |
1
|
2011 |
2015 |
Narrow foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Small cerebral cortex
|
phenotype |
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
PITT-HOPKINS SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
9
|
58
|
1.000 |
definitive |
1.000 |
52 |
58
|
2007 |
2019 |
Corneal dystrophy, Fuchs' endothelial, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
9
|
7
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Cerebral hypoplasia
|
phenotype |
|
Finding
|
9
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Pallister-Hall syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
39
|
0.050 |
None |
0.800 |
5 |
|
2007 |
2008 |
Low-grade fibromyxoid sarcoma
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
CUI: |
C4699184 |
Disease: |
Fuchs
|
Fuchs
|
disease |
|
Disease or Syndrome
|
10
|
5
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Happy demeanor
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
developmentally delayed
|
phenotype |
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |