C0039075

Syndactyly

FZD4

C0039103

Synovitis

HLA-B, POMC

C0041409

Turner Syndrome, Male

PTPN11

C0079541

Holoprosencephaly

GAS1, PTCH1, TDGF1

C0085179

Eosinophilia-Myalgia Syndrome

HLA-DQA1, HLA-DRB1

C0085261

Proteus Syndrome

AKT1, PTEN

C0085655

Polymyositis

CYP27B1, IL1A, IL1B, IL6, TNF

C0151491

Congenital Musculoskeletal Anomalies

TMCO1, SKI, TGFB2

C0151786

Muscle Weakness

DSCR3, CCT8, ADAMTS5, CYYR1, RCAN1, ETS2, MORC3, GABPA, C2CD2, GART, N6AMT1, DONSON, IFNAR1, IFNAR2, IFNGR2, APP, IL10RB, MIR155, NCAM2, PMP22, ATP5O, BRWD1, MIS18A, CLIC6, MRAP, MAP3K7CL, BACH1, SCAF4, JAM2, PRDM15, SH3BGR, ITSN1, SIM2, SLC5A3, SON, TIAM1, TTC3, TTN, WRB, TMEM50B, CHAF1B, RUNX1, PSMG1, CBR1, SYNJ1, PAXBP1, MYOT, ADAMTS1, CRYZL1

C0152427

Polydactyly

KIF3A, GLI3, PTEN

C0158266

Intervertebral Disc Degeneration

GPC6, PARK2, CSMD1, SPARC, TGFB1

C0162666

Mitochondrial Encephalomyopathies

FARS2, NDUFS2, NDUFV2, MFF, C12orf65

C0162670

Mitochondrial Myopathies

IL1A, IL1B, IL6, TNF

C0162671

Melas Syndrome

IL1A, IL1B, NDUFS1, SOD2

C0162672

Merrf Syndrome

IL1A, IL1B

C0162674

Chronic Progressive External Ophthalmoplegia

IL1A, IL1B, POLG, SOD2

C0175693

Russell-Silver Syndrome

H19, IGF2, FOXP2

C0175699

Saethre-Chotzen Syndrome

FGFR2, TWIST1

C0175704

Leopard Syndrome

PTEN, PTPN11, RAF1

C0206762

Limb Deformities, Congenital

GPC6, COL11A2, HAPLN1, FGFR2, IRF6, MIR17HG, TGFB2, CACNA1C

C0220658

Pfeiffer Syndrome

FGFR1, FGFR2

C0220704

Shprintzen Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0221054

Welander Distal Myopathy

TIA1

C0221204

Lytic Lesion

ANTXR2, TNFRSF11B, PTHLH, SPP1, TNF, TNFSF11

C0221355

Macrocephaly

CHD8

C0221357

Brachydactyly

GNAS, SMAD4, HDAC4

C0238190

Inclusion Body Myositis (Disorder)

GNE

C0238288

Muscular Dystrophy, Facioscapulohumeral

CDKN1A, COL3A1, DCN, ACAN, SMCHD1, GSTT2, HSPA1B, HSPA4, LUM

C0238402

Pycnodysostosis

CTSK

C0242287

Isaacs Syndrome

HINT1

C0242292

Mccune-Albright Syndrome

GNAS

C0242387

Mandibulofacial Dysostosis

POLR1D, TCOF1, POLR1C

C0265220

Pallister-Hall Syndrome

GLI3

C0265233

Cryptophthalmos Syndrome

FRAS1

C0265313

Weill-Marchesani Syndrome

FBN1, ADAMTS10

C0265344

Donohue Syndrome

INSR

C0268226

Type I Mucolipidosis

NEU1

C0270952

Muscular Dystrophy, Oculopharyngeal

PABPN1

C0271568

Laron Syndrome

GHR

C0271695

Rabson-Mendenhall Syndrome

INSR

C0282102

Chondrodysplasia Punctata, X-Linked Dominant Type

EBP

C0345408

Hereditary Clubbing

HPGD

C0376634

Craniofacial Abnormalities

GPC6, ATP6AP2, DCAF7, SPRY2, KIF3A, RAB39B, COL11A1, COL11A2, HAPLN1, CSNK1A1, CTNNB1, CNTN4, DLX2, DLX5, DNMT3B, RCAN1, SLC26A2, ECE1, EDN1, EDNRA, EGFR, ERF, ETS2, GPC4, FGFR1, FGFR2, SLC35D1, FMR1, FOLR1, NIPBL, SALL3, GNAQ, GP1BB, SH3PXD2B, FAM83H, SEC61A1, ANXA1, HOXA1, HOXA3, HSPG2, NDST1, IRF6, LETM1, LMNA, LRP2, LTBP3, SMAD2, SMAD3, SMAD4, MMP2, MNT, TRIM37, NOTCH1, PDGFRA, PITX2, TMCO1, ATRX, BNC2, ANKH, PTCH1, PTEN, RAD23B, ACTB, SIM2, SKI, BMPR1A, SOX9, TBX1, TCF4, TCOF1, TGFB2, TGFBR2, ACTG1, TRPS1, UFD1L, UXS1, FZD4, PRKRA, RUNX2, FADD, ITGB1BP1, NRXN1, FOXP2

C0410189

Muscular Dystrophy, Emery-Dreifuss

EMD, SYNE2, LMNA

C0410190

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder)

SYNE2, LMNA, TMEM43

C0410203

X-Linked Centronuclear Myopathy

MAMLD1, MTM1

C0431362

Lobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431363

Alobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431391

Hemimegalencephaly

AKT3, PIK3CA

C0431943

Lower Extremity Deformities, Congenital

HOXD10, PCSK5

C0524582

Mulibrey Nanism

TRIM37

C0524948

Maxillofacial Abnormalities

MTHFR

C0546264

Congenital Fiber Type Disproportion

SEPN1, TPM2, TPM3, HACD1

C0553730

Calcium Pyrophosphate Deposition Disease

POMC

C0574960

Sacroiliitis

POMC

C0587248

Costello Syndrome (Disorder)

KRAS, MAP2K1, MAP2K2, PTPN11

C0686353

Muscular Dystrophies, Limb-Girdle

DNAJB6, LMNA

C0749794

Upper Extremity Deformities, Congenital

EZH2

C0751038

Cockayne Syndrome, Type Ii

ERCC1

C0751039

Cockayne Syndrome, Type I

ERCC4

C0751336

Distal Muscular Dystrophies

TTN, MATR3

C0751337

X-Linked Emery-Dreifuss Muscular Dystrophy

EMD, FHL1

C0751617

Semilobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0752282

Congenital Structural Myopathy

BIN1, MTM1

C0752353

Atrophy, Muscular, Spinobulbar

AR

C0795907

Conotruncal Anomaly Face Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0917713

Becker Muscular Dystrophy

DMD

C0917715

Hajdu-Cheney Syndrome

NOTCH2

C0949690

Spondylarthritis

RUNX2

C0993582

Arthritis, Experimental

CRP, DNMT1, EGFR, AHR, ALB, ACSL1, ACSL4, GSK3B, IL1B, IL6, IL10, LEP, MPO, TNFRSF11B, PTGER4, SAA1, SFRP4, STAT3, TNF, VEGFA, IL33, IL1RL1, ADIPOQ

C1450010

Plagiocephaly, Nonsynostotic

FGFR2

C1450051

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

LMNA

C1510455

Acrocephalosyndactylia

FGFR2, TWIST1

C1510460

Orofaciodigital Syndrome I

OFD1

C1527336

Sjogren'S Syndrome

IRAK1BP1, FCGR2A, GTF2I, IL12A, ITSN2, PHIP, TNFAIP3, PTTG1

C1833340

Synostotic Posterior Plagiocephaly

ERF

C1836635

Loeys-Dietz Aortic Aneurysm Syndrome

TGFBR1

C1838244

Tibial Muscular Dystrophy, Tardive

TTN

C1845168

Hypophosphatemic Rickets, X-Linked Recessive

CLCN5

C1861922

Campomelic Dysplasia

SOX9

C1861923

Acampomelic Campomelic Dysplasia

SOX9

C1864100

Pseudohypoparathyroidism, Type Ib

GNAS

C1866398

Proteus-Like Syndrome (Disorder)

PTEN

C1867983

Porencephaly, Familial

COL4A2

C1869114

Weill-Marchesani Syndrome, Autosomal Recessive

ADAMTS10

C1869115

Weill-Marchesani Syndrome, Autosomal Dominant

FBN1

C2350233

Antley-Bixler Syndrome Phenotype

FGFR2

C2678439

Cranioosteoarthropathy

HPGD

C2697932

Loeys-Dietz Syndrome

SMAD3, TGFB2, TGFBR1, TGFBR2

C2745963

Kashin-Beck Disease

ITPR2

C2931196

Craniofacial Dysostosis Type 1

ERF, FGFR2

C2936346

22Q11 Deletion Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C2936791

Antley-Bixler Syndrome, Autosomal Dominant

FGFR1, FGFR2

C3179239

Osteopetrosis Autosomal Dominant Type 2

CLCN7

C3494506

Pseudohypoparathyroidism, Type Ia

GNAS

C3495559

Juvenile Arthritis

PLK2, ADCY7, CLU, CREM, SIK1, CAMSAP1, DAPK1, GADD45A, DDIT3, HBEGF, DUSP1, DUSP2, EGR1, ZFC3H1, CTTN, C9orf72, FCGR1A, JMJD1C, R3HDM2, TNIK, STAB1, FOS, FOSB, FOSL2, MAFF, FOXP1, GMPR, GNG11, GP1BB, NEAT1, CXCL1, NRG1, HSPA6, IGF1R, IL1RN, AQP9, ITGB5, JUN, AREG, KRAS, LPP, SMAD3, MAP2, RERE, NR4A2, OLR1, MEX3C, MS4A4A, PER1, PLAUR, PLOD2, RBM47, ACPP, ETNK1, MAPK1, ZFAND3, HERPUD2, SLC2A3, SLC11A1, STAT3, TCF7L2, BTG1, TFDP1, TFPI, THBS1, TNFAIP6, TUBB2A, UBE2E1, RNF103, CXCR4, CALD1, NR4A3, NDEL1, MAD1L1, MAML2, AOPEP, MIR22HG, TNFRSF10C, CD14, CD83, KLF4, B4GALT5, PCYT1B, UBE3C, MTSS1, FCHSD2

C3536983

Familial Hypophosphatemic Rickets

CLCN5

C3541456

Spondyloepiphyseal Dysplasia Tarda, X-Linked

TRAPPC2