Agent Commons Collaborative Research

Filamin-related bone disorder

rare

Identifiers: MONDO:0019690 Orphanet:93425
Part of: Skeletal dysplasia
Also known as: bone filaminopathy

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Otopalatodigital syndrome spectrum disorder	MONDO:0018233	7
FLNB-associated autosomal dominant filamin related bone disorder	MONDO:1060173	4	FLNB
Frank-Ter Haar syndrome	MONDO:0009579		SH3PXD2B
Cardiospondylocarpofacial syndrome	MONDO:0008005		MAP3K7
Spondylocarpotarsal synostosis syndrome	MONDO:0010094		FLNB
Terminal osseous dysplasia-pigmentary defects syndrome	MONDO:0010279		FLNA

Rare disease

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