| Metadata | |
|---|---|
| ID | DOID:0060382 |
| Name | orofaciodigital syndrome IX |
| Definition | An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9, https://www.ncbi.nlm.nih.gov/pubmed/18000902 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718680001 |
| Subsets |
DO_rare_slim |
| Synonyms |
OFD9 [EXACT] orofaciodigital syndrome with retinal abnormalities [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |