ZFIN Human Disease: otopalatodigital syndrome type 1

OBO ID: DOID:0111783

Term Name:	otopalatodigital syndrome type 1		Search Ontology:
Synonyms:	OPD I syndrome OPD syndrome 1 OPD1 oto-palato-digital syndrome type 1 otopalatodigital syndrome type I Taybi syndrome
Definition:	An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. (2)
References:	GARD:5121 MESH:C536065 NCI:C118845 OMIM:311300 ORDO:90650 SNOMEDCT_US_2023_03_01:54036001 UMLS_CUI:C0265251
Ontology:	Human Disease ( DOID:0111783 )

Relationships

is a type of:	otopalatodigital syndrome spectrum disorder X-linked dominant disease otopalatodigital syndrome spectrum disorder X-linked dominant disease Show first 5 Terms

OTHER otopalatodigital syndrome type 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FLNA	flna	Otopalatodigital syndrome, type I	311300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None