Bifid nose
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 7 |
| OrphanetNr: | 2695 |
| OMIM Id: |
109740
210400 |
| ICD-10: |
Q30.2 |
| UMLs: |
C0221363 |
| MeSH: |
C535441 |
| MedDRA: |
|
| Snomed: |
204521002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nose and cavum anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
|
|
(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0011803) | Bifid nose | 12 / 7739 | ||||
|
|
(HPO:0000366) | Abnormality of the nose | Very frequent [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | 459 / 7739 | ||||
|
|
(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|