Phenotype: Thickened cortex of long bones (HP:0000935)
Associated genes and diseases:
gene_symbol: ANO5
disease_id: ORPHA:53697
disease_name: Gnathodiaphyseal dysplasia
GDD
gene_symbol: LIFR
disease_id: ORPHA:3206
disease_name: Stüve-Wiedemann syndrome
Neonatal Schwartz-Jampel syndrome
SJS2
STWS
SWS
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome type 1
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: LRP5
disease_id: OMIM:607634
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
gene_symbol: LRP5
disease_id: OMIM:144750
disease_name: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
gene_symbol: AXIN1
disease_id: OMIM:620558
disease_name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
gene_symbol: FAM111A
disease_id: OMIM:127000
disease_name: KENNY-CAFFEY SYNDROME, TYPE 2
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: SOST
disease_id: OMIM:239100
disease_name: VAN BUCHEM DISEASE
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL1A1
disease_id: ORPHA:1310
disease_name: Caffey disease
Infantile cortical hyperostosis
gene_symbol: COL1A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBCE
disease_id: ORPHA:93324
disease_name: Autosomal recessive Kenny-Caffey syndrome
gene_symbol: TBCE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB1
disease_id: ORPHA:1328
disease_name: Camurati-Engelmann disease
Progressive diaphyseal dysplasia
gene_symbol: TGFB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NSD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MATN3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FLNA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCN6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SHOX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDKN1C
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBM8A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ROR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PIGV
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALG3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHSY1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTDSS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC34A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTPN11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ABCC9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT80
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC26A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC25A24
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HDAC8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FERMT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCTN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IKBKG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GLB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC10A7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HOXD13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPPC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BTRC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DONSON
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NFIX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZC4H2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SRCAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GSC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCNQ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DSE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MKS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EOGT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: INPPL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CUL7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRPS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MTAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CLCN7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PKDCC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TNFSF11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WDR35
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SHH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FUCA1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPAT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FIG4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TAPT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCAL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FLNB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPM1D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCOF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SP7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CILK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBPJ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TTI2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOTCH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MESP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PDE3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NKX3-2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TNFRSF11A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRIP11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IKBKB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNLT2B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLCO2A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SETD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SBDS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AMER1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP290
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LFNG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM67
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WDR19
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFBR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EZH2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKACB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IL2RG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NIPBL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HYLS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CSF1R
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIAA0586
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPNAT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AIFM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT43
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPRED1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2H1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CREB3L1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRPV6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DPM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MYO18B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: INTU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OTX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPARC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SEC24D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NAGLU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LRP4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SEMA3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACVR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STAT5B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP2R1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MEGF8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFITM5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC134
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NSDHL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC73
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAFB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OBSL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ENPP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TENT5A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBXW4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PSMB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CANT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PROP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: XRCC4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM216
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RSPO2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HMGA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT10B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPP1R21
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COMP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TWIST1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNX10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DNA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF23
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCIRG1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BGN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKACA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IARS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EFTUD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT5A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HSPG2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POU1F1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NBAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL9A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTH1R
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VPS35L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CC2D2A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EVC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CFAP410
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: P4HB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAM20B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXOC6B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EDN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARCN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: P3H1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SCARF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARID1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARSL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PNPLA6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LHX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF3
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE