C0001193

Apert Syndrome

FGFR2

C0001206

Acromegaly

GH1, GNAS, IGF1, AIP

C0002382

Alveolar Bone Loss

ALPL, TNFSF11

C0003090

Ankylosis

FGFR2

C0003706

Arachnodactyly

FBN1, FZD4

C0003862

Arthralgia

MVK

C0003864

Arthritis

COPA, REEP3, JMJD1C, HP, TIMMDC1, ZFP36, VTCN1

C0003868

Arthritis, Gouty

POMC

C0003869

Arthritis, Infectious

TNF

C0003872

Arthritis, Psoriatic

TRAF3IP2, HLA-C, CXCL8, NR4A2, REL, BMP4, TNF, RUNX2, CD68

C0003873

Rheumatoid Arthritis

ABCC5, CDK6, ABCC4, TXNIP, B3GNT2, PHTF1, OS9, TAGAP, CRP, HAPLN1, CTGF, CTSD, CLYBL, DHFR, ACAN, DPP4, RCAN1, AHR, ENO1, F2, RTKN2, FCGR2A, JAZF1, FKBP5, PLCL2, TNPO3, PADI4, ALOX5, PHF19, GART, PTPN22, GC, RGMB, GRK6, CXCL2, HCLS1, ANXA3, HLA-DQA2, HLA-DRB1, HOXD10, HSD11B1, IGFBP3, CYR61, IL1B, IL1RN, IL6, IL6R, IL6ST, CXCL8, IL10, IL18, IRAK1, ITGA6, AFF3, LCN2, MARCKS, STS, MIF, MMP2, MMP10, MPO, MTF1, MTHFR, NCF2, NFKBIL1, TNFRSF11B, FOXP3, CD244, PON1, POU3F1, DDIT4, PXK, PRKCQ, BAIAP2L1, PTGS2, PTK2, PTPN2, PTPRC, RAP2A, REL, BGN, CCL8, CXCL6, BMP4, BMP6, SLC11A1, SOD2, SUOX, TLE3, TLR2, TMPO, TNF, TNFAIP2, TNFAIP3, TRAF1, VEGFA, CXCR4, DDA1, MMEL1, ANKRD55, TFPI2, CALD1, NR4A3, ST6GALNAC5, GDF5, ARID5B, MGARP, B3GNT9, PPIL4, CAV2, RUNX2, SLC25A12, RUNX1, GGH, C5orf30, GPRC5A, RABEP1, CD83, LHX2, ADIPOQ, CD28, FADS2

C0004779

Basal Cell Nevus Syndrome

GLI2, SUFU, PTCH1

C0005940

Bone Diseases

JAG1, LTBP3, MMP2, ALDH7A1, TRPV4, BMP2, TGFBR2

C0005941

Bone Diseases, Developmental

KIF3A, DLX5, SLC26A2, NIPBL, AFF4, SH3PXD2B, IGF2, MIR17HG, PCSK5, TMCO1, TGFB2, TRPS1, CBFB, ITGB1BP1

C0005942

Bone Diseases, Endocrine

PDGFA, PTH

C0005944

Metabolic Bone Disorder

CYP2R1, DHCR7, ESR1, GC, ANKRD11, IGF1, KCNMA1, LRP2, MMP2

C0005967

Bone Neoplasms

MMP2, MMP9, PLAU, PLOD2, PTGS2, TGFBR2, NCOA3

C0005974

Bone Resorption

CYP19A1, AHR, CXCL2, TNFRSF11B, PTH, PTHLH

C0007302

Cartilage Diseases

COL11A2, EDN1, FGF14

C0008925

Cleft Palate

SPRY2, MTHFS, DLG1, FGF2, FGF7, FGF9, FGFR1, FGFR2, IRF6, MNT, MTR, MYC, NOS3, PDGFRA, BNC2, PTCH1, SIM2, SLC19A1, TGFB1, TGFB2, TYMS, FZD4, CASK, CBFB

C0008928

Cleidocranial Dysplasia

RUNX2

C0009081

Congenital Clubfoot

MTHFR

C0009917

Contracture

PRG4, ANTXR2

C0010273

Craniofacial Dysostosis

FGFR2

C0010278

Craniosynostosis

ERF, EZH2, FGFR2, IFT122, WDR35, BMP2, TCF12, TWIST1

C0010308

Congenital Hypothyroidism

DUOX2

C0011633

Dermatomyositis

HLA-B, IL1A, IL1B, TNF

C0011989

Camurati-Engelmann Syndrome

TGFB1

C0012236

Digeorge Syndrome

COMT, CRKL, GP1BB, TBX1, HIRA, UFD1L

C0013264

Muscular Dystrophy, Duchenne

POSTN, DMD, CCL2, TGFB1, CD4

C0013312

Dupuytren Contracture

EPDR1, TIMP2, WNT2

C0013336

Dwarfism

PLK4, HAPLN1, ORC1

C0013393

Dysostoses

ACTB

C0013903

Ellis-Van Creveld Syndrome

EVC

C0014084

Enchondromatosis

IDH1, IDH2, PTPN11

C0015306

Hereditary Multiple Exostoses

EXT1, EXT2, PTPN11

C0015814

Femur Head Necrosis

POMC

C0016037

Fibrodysplasia Ossificans Progressiva

ACVR1

C0016063

Osteitis Fibrosa Disseminata

FOS, TRIM37

C0016064

Fibrous Dysplasia, Monostotic

GNAS

C0016065

Polyostotic Fibrous Dysplasia

GNAS

C0016508

Congenital Foot Deformity

LMNA, PTHLH

C0018099

Gout

ALDH16A1, FGFR2, IL1B, CD14

C0018522

Hallermann'S Syndrome

GJA1

C0018566

Congenital Hand Deformities

LMNA, PTHLH, SOX9

C0020492

Hyperostosis

PTH

C0020497

Cortical Congenital Hyperostosis

COL1A1

C0020725

Type Ii Mucolipidosis

GNPTAB

C0021818

Intervertebral Disk Displacement

COL11A1

C0022360

Jaw Abnormalities

OTX2, PCSK5, POLD1

C0022410

Joint Instability

COMP

C0022541

Kearns-Sayre Syndrome

IL1A, IL1B

C0022821

Kyphosis Deformity Of Spine

PARP1, SLC26A2, LTBP3, PLOD1

C0023003

Langer-Giedion Syndrome

EXT1, TRPS1

C0023806

Lipomucopolysaccharidosis

NEU1

C0023931

Lobstein'S Disease

COL1A1, COL1A2

C0024454

Maffucci Syndrome

IDH1, IDH2

C0024507

Majewski Syndrome

NEK1

C0024689

Mandibular Diseases

MMP2

C0024796

Marfan Syndrome

FBN1, LAMC1, MMP2, MMP9, SOD2, TGFBR2

C0024950

Maxillary Diseases

MMP2

C0025237

Melnick-Needles Syndrome

FLNA

C0025239

Melorheostosis

LEMD3

C0025958

Microcephaly

PQBP1, STAMBP, PLK4, DYNC1H1, FOXG1, WDR62, KIF5C, MIR17HG, ORC1, SLC2A1, TCF4, BUB1B, TUBG1, MFSD2A, CASK

C0026837

Muscle Rigidity

CYP2D6, NTS, PDE8B

C0026838

Muscle Spasticity

CNR1

C0026848

Myopathy

CTSB, ALB, FABP3, HINT1, HMGCR, HTR7, IL1B, INS, SMAD4, MAOA, EIF2AK4, PPARA, PYGM, TGFB1, TTN, MEGF10

C0026850

Muscular Dystrophy

COL6A1, DMD, LAMA2, SEPN1

C0027080

Myoglobinuria

LDHA

C0027121

Myositis

IGHG1, IGKC, IL1RN, TARS

C0027122

Myositis Ossificans

ACVR1

C0027126

Myotonic Dystrophy

DMPK

C0028326

Noonan Syndrome

KAT6B, KRAS, NRAS, MAP2K1, MAP2K2, PTPN11, RAF1, RASA2, RIT1, SOS1, SOS2

C0028433

Nose Neoplasms

MMP2

C0029401

Osteitis Deformans

OPTN, NUP205, RIN3, TNFRSF11A, SQSTM1

C0029408

Degenerative Polyarthritis

PDCD6IP, EDIL3, SEC23A, DUS4L, CHI3L1, CLU, CLIC1, COL1A2, COL6A2, COMP, CTSD, AKR1C1, AKR1C2, DDX3X, DPYSL2, EEF2, ENO1, AK4, TRIM2, FTL, GAPDH, HIBCH, GNL3, GLS, CXCL2, IDH2, IL1B, GSTK1, LTBP3, SMAD3, NDUFS8, OPA1, PDHA1, ATP6V1B2, PLCD1, PLOD2, PPARG, PPP2R1A, PBRM1, PSMB1, TRPV4, ACTB, CXCL6, SDCBP, SDHA, SLC2A1, BMP4, BMP6, SOD2, TGM2, TXNRD1, VDAC2, EZR, VIM, TFPI2, GDF5, SUPT3H, RUNX2, ALDH1A2

C0029410

Osteoarthritis Of Hip

GDF5

C0029411

Osteoarthropathy, Primary Hypertrophic

HPGD

C0029421

Osteochondritis Dissecans

ACAN

C0029422

Osteochondrodysplasias

COL9A1, COL11A1, FLNA, HSPG2, SOST, TRPV4, BCL2, TRAPPC2, VEGFA

C0029423

Cartilaginous Exostosis

PTPN11

C0029434

Osteogenesis Imperfecta

CRTAP, COL1A1, COL1A2, SPARC

C0029445

Bone Necrosis

MMP2

C0029454

Osteopetrosis

CLCN7, TNFSF11

C0029455

Osteopoikilosis (Disorder)

LEMD3

C0029456

Osteoporosis

TUBA1B, CCT2, TBC1D8, MGLL, OSBPL1A, ANTXR2, COL1A1, COL1A2, CYP19A1, ENO1, FGA, FGB, PGLS, GAPDH, GPD2, GPX1, ANXA2, IDH2, IL6, IL6R, LRP5, PNP, TNFRSF11B, ALDH7A1, OXCT1, P4HB, PKM, POMC, PSMA2, PTH, RAP1A, SOD2, TGFB1, TLN1, ACTG1, TPI1, TPM4, VDR, CA2, PDLIM4, TNFSF11, KL, WDR1

C0029458

Osteoporosis, Postmenopausal

COL1A2, IL1B, IL6, PTH, TGFB1, TNF

C0029464

Osteosclerosis

LTBP3

C0031900

Pierre Robin Syndrome

SOX9

C0033788

Pseudo-Hurler Polydystrophy

GNPTAB

C0033806

Pseudohypoparathyroidism

GNAS

C0033835

Pseudopseudohypoparathyroidism

GNAS

C0035410

Rhabdomyolysis

INS

C0035579

Rickets

CYP27B1, PTH, VDR

C0035934

Rubinstein-Taybi Syndrome

CREBBP, EP300

C0036391

Schwartz-Jampel Syndrome

HSPG2

C0036439

Scoliosis, Unspecified

NOTCH1

C0036996

Short Rib-Polydactyly Syndrome

NEK1

C0037932

Curvature Of Spine

IFT122

C0038013

Ankylosing Spondylitis

MICA, ANTXR2, ANO6, HLA-A, HLA-B, ERAP1, PTGER4, IL1R2, RUNX3