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Metadata
ID DOID:0111783
Name otopalatodigital syndrome type 1
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 FLNA on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/12612583, https://www.ncbi.nlm.nih.gov/pubmed/20301567
Xrefs

GARD:5121

MESH:C536065

NCI:C118845

OMIM:311300

ORDO:90650

SNOMEDCT_US_2020_09_01:54036001

UMLS_CUI:C0265251

Synonyms

OPD I syndrome [EXACT]

OPD syndrome 1 [EXACT]

OPD1 [EXACT]

oto-palato-digital syndrome type 1 [EXACT]

otopalatodigital syndrome type I [EXACT]

Taybi syndrome [EXACT]

Parent Relationships

is_a otopalatodigital syndrome spectrum disorder

is_a X-linked dominant disease

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