DISORDER	GENE	MIM
Achondrogenesis, type IB (ACG1B)	DTDST	600972
Achondrogenesis, type II (ACG2) / Hypochondrogenesis	COL2A1	200610
Achondroplasia (ACH) / Hypochondroplasia (HCH)	FGFR3	100800 146000
Anauxetic dysplasia	RMRP	607095
Aortic aneurysm, familial thoracic 5 (AAT5)	TGFBR1	610380
Aortic aneurysm, familial thoracic 3 (AAT3)	TGFBR2	608967
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3)	TGFBR1 & TGFBR2	610380 / 608967
Aortic aneurysm, familial thoracic 4 (AAT4)	MYH11	132900
Aortic aneurysm, familial thoracic 6 (AAT6)	ACTA2	611788
Arterial tortuosity syndrome (ATS)	SLC2A10	208050
Atelosteogenesis, type I and III (AOI and AOIII)	FLNB	108720 / 108721
Atelosteogenesis, type II (AOII)	DTDST	256050
Avascular necrosis of femoral head, primary (ANFH)	COL2A1	608805
Boomerang dysplasia (BD)	FLNB	112310
Cartilage-hair hypoplasia (CHH)	RMRP	250250
Cleidocranial dysplasia (CCD)	RUNX2	119600
Contractural congenital arachnodactyly (CCA)	FBN2	121050
Diastrophic dysplasia (DTD)	DTDST	222600
Ectopia lentis	FBN1	129600
Ehlers-Danlos syndrome, type I (EDS I)	COL5A1 & COL5A2	130000
Ehlers-Danlos syndrome, type II (EDS II)	COL5A1 & COL5A2	130010
Ehlers-Danlos syndrome, type IV (EDS IV)	COL3A1	130050
Ehlers-Danlos syndrome, type VI (EDS VI)	PLOD1	225400
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB)	COL1A1 & COL1A2	130060
Homocystinuria	CBS	236200
Hypophosphatasia, infantile	ALPL	241500
Hypophosphatasia, childhood	ALPL	241510
Hypophosphatasia, adult type	ALPL	146300
Kniest dysplasia	COL2A1	156550
Larsen syndrome, autosomal dominant (LRS1)	FLNB	150250
Loeys-Dietz syndrome (LDS)	TGFBR1	609192
Loeys-Dietz syndrome (LDS)	TGFBR2	609192
Loeys-Dietz syndrome (LDS)	TGFBR1 & TGFBR2	609192
Marfan syndrome, type I (MFS1)	FBN1	154700
Marfan syndrome, type I / II (MFS1 / MFS2)	FBN1 & TGFBR2	154700 154705
Marfan syndrome, type II (MFS2)	TGFBR2	154705
Marshall syndrome	COL11A1	154780
Metaphyseal chondrodysplasia, Schmid type (MCDS)	COL10A1	156500
Metaphyseal dysplasia without hypotrichosis (CHHV)	RMRP	250460
Multiple epiphyseal dysplasia (MED)	COMP, COL9A1, COL9A2, COL9A3, MATN3 & DTDST	132400,   600204, 600969, 607078, 226900
Nail-patella syndrome (NPS)	LMX1B	161200
Osteogenesis imperfecta, autosomal recessive	CRTAP	610854, 610682
Osteogenesis imperfecta, autosomal recessive	LEPRE1	610915
Osteogenesis imperfecta, autosomal recessive	CRTAP & LEPRE1	610854, 610682 610915
Osteopetrosis, autosomal dominant (OPTA2)	CLCN7	166600
Osteopetrosis, autosomal recessive (OPTB4)	CLCN7	611490
Osteopetrosis, autosomal recessive (OPTB1)	TCIRG1	259700
Osteopetrosis, autosomal recessive (OPTB5)	OSTM1	259720
Osteopetrosis, autosomal recessive (OPTB1 / 4 / 5)	TCIRG1, CLCN7 & OSTM1	259700 611490 259720
Osteopetrosis, autosomal recessive (OPTB2)	TNFSF11	259710
Osteopetrosis with renal tubular acidosis (OPTB3)	CA2	259730
Otospondylomegaepiphyseal dysplasia (OSMED)	COL11A2	215150
Pseudoachondroplasia (PSACH)	COMP	177170
Progressive pseudorheumatoid arthropathy of childhood (PPAC)	WISP3	208230
Rickets, hypophosphatemic, autosomal dominant (ADHR)	FGF23	193100
Rickets, hypophosphatemic, X-linked dominant (XLH)	PHEX	307800
Rickets, vitamin D-dependent, type I (VDDR I)	CYP27B1	264700
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)	FGFR3
Spondylocarpotarsal synostosis syndrome (SCT)	FLNB	272460
Spondyloepiphyseal dysplasia congenita (SEDc); Spondyloepimetaphyseal dysplasia, Strudwick , type (SEMD); Osteoarthritis with mild chondrodysplasia	COL2A1	183900 184250
Spondyloepiphyseal dysplasia tarda, X-linked	SEDL	313400
Stickler syndrome, type I (STL1)	COL2A1	108300
Stickler syndrome, type II (STL2)	COL11A1	604841
Stickler syndrome, type I / II (STL1 / STL2)	COL2A1 & COL11A1	108300 / 604841
Stickler syndrome, type III (STL3)	COL11A2	184840
Thanatophoric dysplasia, type I / II (TD1 / TD2)	FGFR3	187600 / 187601
Tooth agenesis, selective, 1 (STHAG1)	MSX1	106600
Wagner syndrome (WGN1)	CSPG2	143200
Weill-Marchesani syndrome (WMS), autosomal dominant	FBN1	608328
Weill-Marchesani syndrome (WMS), autosomal recessive	ADAMTS10	277600
Weissenbacher-Zweymuller syndrome (WZS)	COL11A2	277610
Witkop syndrome	MSX1	189500
Known mutation	Any above