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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

GARD:10520

MESH:C557818

OMIM:258865

ORDO:141007

SNOMEDCT_US_2023_03_01:718680001

UMLS_CUI:C0796102

Subsets

DO_rare_slim

Synonyms

OFD9 [EXACT]

orofaciodigital syndrome with retinal abnormalities [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

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