Frontonasal Dysplasia 1
Disease ID: disease_node_20279
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| Dbxref | MIM:136760 |
|---|---|
| Subclassof | DOID_0081044, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Frontorhiny |
| Doid Label | frontonasal dysplasia 1 |
| Doid Description | A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20279 |
| Doid Id | DOID_0081045 |
| Label | Frontonasal Dysplasia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)