Spondyloepimetaphyseal dysplasia

rare

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.

Identifiers: MONDO:0100510
Part of: Osteochondrodysplasia
Also known as: SEMD · spondylo-epi-(meta)-physeal dysplasia

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
COL2A1-related spondyloepiphyseal dysplasia	MONDO:0100602	7	COL2A1
Spondyloepimetaphyseal dysplasia with joint laxity	MONDO:0019675	3
Spondyloepimetaphyseal dysplasia, Bieganski type	MONDO:0010275		AIFM1
Spondyloepimetaphyseal dysplasia, Genevieve type	MONDO:0012495		NANS
Spondyloepimetaphyseal dysplasia, Guo-Campeau type	MONDO:0958006		ERI1
Spondyloepimetaphyseal dysplasia, Handigodu type	MONDO:0013233
Spondyloepimetaphyseal dysplasia, Irapa type	MONDO:0010076
Spondyloepimetaphyseal dysplasia, Isidor type	MONDO:0018254
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	MONDO:0032885		RPL13
Spondyloepimetaphyseal dysplasia, Krakow type	MONDO:0032571
Spondyloepimetaphyseal dysplasia, Li-Shao-Li type	MONDO:0976230
Spondyloepimetaphyseal dysplasia, Maroteaux type	MONDO:0008473		TRPV4
Spondyloepimetaphyseal dysplasia, Missouri type	MONDO:0011198		MMP13
Spondyloepimetaphyseal dysplasia, PAPSS2 type	MONDO:0019666		PAPSS2
Spondyloepimetaphyseal dysplasia, Shohat type	MONDO:0011252		DDRGK1
Spondyloepimetaphyseal dysplasia, Strudwick type	MONDO:0008476		COL2A1
Spondyloepimetaphyseal dysplasia, aggrecan type	MONDO:0013014
Spondyloepimetaphyseal dysplasia, di rocco type	MONDO:0060702		UFSP2
Spondyloepimetaphyseal dysplasia, matrilin-3 type	MONDO:0012108		MATN3
Spondyloepimetaphyseal dysplasia, sponastrime type	MONDO:0010068		TONSL
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	MONDO:0011124
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	MONDO:0008469
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	MONDO:0010077		DDR2

Projects

Including projects on subtypes.

No projects yet.