ZFIN Human Disease: otopalatodigital syndrome type 2

OBO ID: DOID:0111784

Term Name:	otopalatodigital syndrome type 2		Search Ontology:
Synonyms:	Andre syndrome faciopalatoosseous syndrome OPD II syndrome OPD syndrome 2 OPD2 oto-palato-digital syndrome type 2 otopalatodigital syndrome type II
Definition:	An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. (3)
References:	GARD:5802 MESH:C538089 OMIM:304120 ORDO:90652 SNOMEDCT_US_2023_03_01:42432003 UMLS_CUI:C1844696
Ontology:	Human Disease ( DOID:0111784 )

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 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FLNA	flna	Otopalatodigital syndrome, type II	304120

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None