Osteochondrodysplasia

A term referring to disorders characterized by abnormalities in the development of bones and cartilage.

Identifiers: MONDO:0005516
Part of: Bone development disease Skeletal dysplasia
Also known as: congenital skeletal dysplasia

Subtypes

Disease	ID	Subtypes	Genes
Spondyloepiphyseal dysplasia	MONDO:0016761	71
Osteogenesis imperfecta	MONDO:0019019	44
Spondyloepimetaphyseal dysplasia	MONDO:0100510	33
Multiple epiphyseal dysplasia	MONDO:0016648	13
Acromesomelic dysplasia	MONDO:0019696	8
Mesomelic dysplasia	MONDO:0023599	7
Neonatal osteosclerotic dysplasia	MONDO:0019702	7
Linkeropathy	MONDO:1040022	6
Achondrogenesis	MONDO:0019648	5
Brachyolmia	MONDO:0015262	5
Thanatophoric dysplasia	MONDO:0017042	5	FGFR3
Leri-Weill dyschondrosteosis	MONDO:0007481	3
Atelosteogenesis	MONDO:0000389	3
Blount disease	MONDO:0017194	2
Desbuquois dysplasia	MONDO:0015426	2
Pyle disease	MONDO:0009943	2	SFRP4
Fibrochondrogenesis	MONDO:0016068	2
Boomerang dysplasia	MONDO:0007208
Fairbank disease	MONDO:0023106
Kashin-Beck disease	MONDO:0005610
Kniest dysplasia	MONDO:0007987		COL2A1
Schmid metaphyseal chondrodysplasia	MONDO:0007983		COL10A1
Acheiropody	MONDO:0008700		LMBR1
Achondroplasia	MONDO:0007037		FGFR3
Acrocapitofemoral dysplasia	MONDO:0011907		IHH
Arterial tortuosity-bone fragility syndrome	MONDO:0971179		EMILIN1
Bone dysplasia, lethal Holmgren type	MONDO:0008878
Campomelic dysplasia	MONDO:0007251		SOX9
Cleidocranial dysplasia 1	MONDO:0007340		RUNX2
Cleidocranial dysplasia 2	MONDO:0859307		CBFB
Cleidocranial dysplasia, recessive form	MONDO:0008994
Diastrophic dysplasia	MONDO:0009107
Hypertrichotic osteochondrodysplasia Cantu type	MONDO:0009406		ABCC9
Hypochondroplasia	MONDO:0007793		FGFR3
Lethal Kniest-like dysplasia	MONDO:0009498
Lethal chondrodysplasia, Seller type	MONDO:0011064
Mesomelia-synostoses syndrome	MONDO:0010881
Metaphyseal chondrodysplasia, Jansen type	MONDO:0007982		PTH1R
Metaphyseal chondrodysplasia, Kaitila type	MONDO:0009594
Metaphyseal chondrodysplasia, Spahr type	MONDO:0009597		MMP13
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	MONDO:0009598		CWC27
Microcephalic osteodysplastic primordial dwarfism type I	MONDO:0008871
Microcephalic osteodysplastic primordial dwarfism type II	MONDO:0008872		PCNT
Midface dysplasia	MONDO:0000446
Pseudoachondroplasia	MONDO:0008322
Pycnodysostosis	MONDO:0009940		CTSK
Pyknoachondrogenesis	MONDO:0009942
Schneckenbecken dysplasia	MONDO:0010013		SLC35D1
Ulna metaphyseal dysplasia syndrome	MONDO:0008619

Rare disease

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