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Items: 6

1.

OTOFACIOCERVICAL SYNDROME 1 (1 patient)

MedGen UID:
902186
Concept ID:
C4225573
Finding
2.

Congenital anomaly of anterior segment of eye

MedGen UID:
888200
Concept ID:
C4048228
Congenital Abnormality
3.

Branchiootorenal syndrome with cataract

MedGen UID:
865189
Concept ID:
C4016752
Finding
4.

Anterior segment anomalies and cataract

MedGen UID:
865188
Concept ID:
C4016751
Finding
5.

Branchiootic syndrome

Branchiootorenal spectrum disorders comprise branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS). BOR is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. BOS has the same features as BOR syndrome but without renal involvement. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. BOR syndrome and BOS can be seen in the same family. [from GTR]

MedGen UID:
351307
Concept ID:
C1865143
Disease or Syndrome
6.

Melnick-Fraser syndrome

Branchiootorenal spectrum disorders comprise branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS). BOR is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. BOS has the same features as BOR syndrome but without renal involvement. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. BOR syndrome and BOS can be seen in the same family. [from GTR]

MedGen UID:
82693
Concept ID:
C0265234
Disease or Syndrome
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