Branchial anomaly
|
disease |
|
Congenital Abnormality
|
1
|
3
|
0.100 |
None |
1.000 |
1 |
3
|
2015 |
2015 |
Ectopic lacrimal punctum
|
phenotype |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Unilateral conductive hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Postauricular fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Otorhinolaryngologic Diseases
|
Acquired Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Supraauricular pit
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Fusion of middle ear ossicles
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Upper lip pit
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Ectopic thymus tissue
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
SCALP-EAR-NIPPLE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
8
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
CHAR SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Short nasal septum
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Duplication of internal organs
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Lower lip pit
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital lip pits
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Conductive hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Branchiootorenal Syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
4
|
4
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Malrotation of colon
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Small forehead
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic superior helix
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the middle ear ossicles
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Branchiootorenal Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
5
|
24
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Abnormality of upper lip
|
disease |
|
Anatomical Abnormality
|
6
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Stenosis of nasolacrimal duct
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Dilatated internal auditory canal
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Branchio-Oculo-Facial Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
16
|
0.800 |
None |
1.000 |
20 |
16
|
1996 |
2019 |