Robinow Sorauf syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
1
|
0.600 |
strong |
1.000 |
2 |
1
|
1997 |
1998 |
Saethre-Chotzen Syndrome with Eyelid Anomalies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
1
|
0.400 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Apert-Crouzon Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2013 |
SWEENEY-COX SYNDROME
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.420 |
None |
1.000 |
2 |
1
|
2017 |
2018 |
Chromosome 7, trisomy 7p
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Cleft of chin
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Absent first metatarsal
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Partial duplication of the distal phalanx of the 3rd finger
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Partial duplication of the distal phalanx of the 2nd finger
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Acrocephalosyndactylia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
3
|
1
|
0.320 |
None |
1.000 |
4 |
|
2002 |
2013 |
Baller-Gerold syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
54
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2001 |
Eustachian tube disorder
|
group |
Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Prominent crus of helix
|
disease |
|
Anatomical Abnormality
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Hereditary lymphedema and yellow nails
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Radial aplasia
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Appendiceal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Peritoneal Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Acute Chagas' disease
|
disease |
Infections
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital facial asymmetry
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Congenital absence of jaw
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Low grade appendiceal mucinous neoplasm
|
disease |
|
Neoplastic Process
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Unicoronal synostosis
|
disease |
|
Anatomical Abnormality
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Asymmetrical skull
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Proximal radio-ulnar synostosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Bicoronal synostosis
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2018 |