Phenotype: Abnormality of subcutaneous fat tissue (HP:0001001)
Associated genes and diseases:
gene_symbol: ADAMTSL2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: ADAMTS2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: COL1A2
disease_id: ORPHA:1899
disease_name: Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasia EDS
Arthrochalasis multiplex congenita
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
aEDS
gene_symbol: COL1A1
disease_id: ORPHA:1899
disease_name: Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasia EDS
Arthrochalasis multiplex congenita
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
aEDS
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: MEN1
disease_id: OMIM:131100
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: OMIM:248370
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: PIK3R1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBN1
disease_id: OMIM:616914
disease_name: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: BSCL2
disease_id: ORPHA:363400
disease_name: Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
gene_symbol: NSD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBCE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MATN3
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: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: SLC25A24
disease_id: ORPHA:2963
disease_name: Progeroid syndrome, Petty type
Fontaine progeroid syndrome
Petty syndrome
Petty-Laxova-Wiedemann syndrome
gene_symbol: HDAC8
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: 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: 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: SOST
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: 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: ANO5
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
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disease_id: OMIM:131300
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disease_id: OMIM:131300
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disease_id: OMIM:131300
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disease_id: OMIM:131300
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disease_id: OMIM:131300
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_id: OMIM:131300
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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disease_name: CAMURATI-ENGELMANN DISEASE
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gene_symbol: ADAMTS17
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disease_name: CAMURATI-ENGELMANN DISEASE
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gene_symbol: GCM2
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disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMPER
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disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IL6ST
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAB33B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPINK5
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disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NLRP3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLL3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACP5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DOCK6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MCM5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC29A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLS3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NEK9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIAA0753
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NSD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BRAF
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP26B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KAT6B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BRF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RASGRP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NXN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TP63
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP27B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: DNMT3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: WNT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PHGDH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRAPPC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYM
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGFR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDUA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IL1RN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: CAV1
disease_id: OMIM:612526
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: PTF1A
disease_id: OMIM:609069
disease_name: PANCREATIC AND CEREBELLAR AGENESIS
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: PLIN1
disease_id: ORPHA:280356
disease_name: PLIN1-related familial partial lipodystrophy
FPLD4
PLIN1-related FPLD
gene_symbol: PPARG
disease_id: OMIM:604367
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: KCNK9
disease_id: OMIM:612292
disease_name: BIRK-BAREL SYNDROME
gene_symbol: TOP3A
disease_id: OMIM:618097
disease_name: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: RBM28
disease_id: OMIM:612079
disease_name: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: ARMC5
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: KDM1A
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ADRA2A
disease_id: OMIM:620679
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: TRMT10A
disease_id: OMIM:616033
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome