ZFIN Human Disease: orofaciodigital syndrome IX

OBO ID: DOID:0060382

Term Name:	orofaciodigital syndrome IX		Search Ontology:
Synonyms:	OFD9 orofaciodigital syndrome with retinal abnormalities
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. (2)
References:	GARD:10520 MESH:C557818 OMIM:258865 ORDO:141007 SNOMEDCT_US_2023_03_01:718680001 UMLS_CUI:C0796102
Ontology:	Human Disease ( DOID:0060382 )

Relationships

is a type of:	autosomal recessive disease orofaciodigital syndrome autosomal recessive disease orofaciodigital syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None