Phenotype: Round face (HP:0000311)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:132450
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
gene_symbol: COL2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: FGD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGD1
disease_id: ORPHA:915
disease_name: Aarskog-Scott syndrome
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
gene_symbol: IARS1
disease_id: OMIM:617093
disease_name: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
gene_symbol: IARS1
disease_id: ORPHA:541423
disease_name: Growth delay-intellectual disability-hepatopathy syndrome
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: SMC1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: ADARB1
disease_id: OMIM:618862
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: CHSY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KDM6B
disease_id: OMIM:618505
disease_name: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: RNU4ATAC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: ANKRD11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: HDAC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: CACNA1C
disease_id: OMIM:601005
disease_name: TIMOTHY SYNDROME
gene_symbol: GNAS
disease_id: OMIM:219080
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: GNAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAS
disease_id: OMIM:612463
disease_name: PSEUDOPSEUDOHYPOPARATHYROIDISM
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: PLCB4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: DNMT3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: TMEM67
disease_id: OMIM:216360
disease_name: COACH SYNDROME 1
gene_symbol: TMEM67
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
gene_symbol: PRKAR1B
disease_id: OMIM:619680
disease_name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
gene_symbol: CENPE
disease_id: OMIM:616051
disease_name: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: CENPE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: CSGALNACT1
disease_id: OMIM:618870
disease_name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
gene_symbol: CSGALNACT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: LMX1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: ACTG2
disease_id: ORPHA:2604
disease_name: Familial visceral myopathy
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
gene_symbol: PDE11A
disease_id: OMIM:610475
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
gene_symbol: CPE
disease_id: OMIM:619326
disease_name: BDV SYNDROME
gene_symbol: DIS3L2
disease_id: ORPHA:2849
disease_name: Perlman syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
gene_symbol: SPECC1L
disease_id: ORPHA:1519
disease_name: SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
gene_symbol: SPECC1L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZBTB18
disease_id: ORPHA:36367
disease_name: Distal deletion 1q syndrome
Distal monosomy 1q
Monosomy 1qter
Telomeric deletion 1q
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PEX1
disease_id: ORPHA:3220
disease_name: Deafness-enamel hypoplasia-nail defects syndrome
Hearing loss-enamel hypoplasia-nail defects syndrome
Heimler syndrome
gene_symbol: SLC37A4
disease_id: ORPHA:79259
disease_name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type 1b
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: P3H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
gene_symbol: SH3BP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: SLC10A7
disease_id: OMIM:618363
disease_name: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
gene_symbol: SLC10A7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD1
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: TBCE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MATN3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBN1
disease_id: ORPHA:969
disease_name: Acromicric dysplasia
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: FBN1
disease_id: OMIM:102370
disease_name: ACROMICRIC DYSPLASIA
gene_symbol: FLNA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCN6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDKN1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBM8A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ROR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTDSS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC34A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTPN11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: ABCC9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT80
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC26A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: RAC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC25A24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HDAC8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FERMT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCTN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IKBKG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXD13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXD13
disease_id: OMIM:113300
disease_name: BRACHYDACTYLY, TYPE E1
gene_symbol: NPPC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTRC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DONSON
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NFIX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZC4H2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SRCAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GSC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMAD4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCNQ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DSE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MKS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EOGT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INPPL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CUL7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MTAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CLCN7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PKDCC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFSF11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR35
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUCA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMAD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FIG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TAPT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCAL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FLNB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPM1D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCOF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SP7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CILK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBPJ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOTCH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NKX3-2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIP11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IKBKB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNLT2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMAD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SETD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SBDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMER1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP290
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LFNG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFBR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EZH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: EZH2
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: PRKACB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL2RG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIPBL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HYLS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIAA0586
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AIFM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT43
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPRED1
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CREB3L1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPV6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYO18B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INTU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OTX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPARC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SEC24D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NAGLU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SEMA3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACVR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT5B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP2R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEGF8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFITM5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC134
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANO5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSDHL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC73
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAFB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OBSL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ENPP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TENT5A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBXW4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PSMB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CANT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: PROP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XRCC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GH1
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM216
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RSPO2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HMGA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT10B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1R21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COMP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TWIST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNX10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCIRG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BGN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKACA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IARS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFTUD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT5A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HSPG2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POU1F1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NBAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PTH1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLOD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VPS35L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CC2D2A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CFAP410
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: P4HB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOC6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLOD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARCN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCARF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARID1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARSL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PNPLA6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NANS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RREB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ERF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLAG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLEKHM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SKI
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC39A13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LAMA5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ECEL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
gene_symbol: CPAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SGMS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPV4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PUF60
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT172
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SULF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EP300
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LIFR
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARSB
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL10
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MIR140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBXAS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GINS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GMNN
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MBTPS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP5
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFNB1
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATR
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX5
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHODH
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20C
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGSF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPCD
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAPPA2
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF4A3
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL1A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHCR24
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CBL
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GZF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: CLCN5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLCB3
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACTB
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LZTR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STIM1
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIPPLY2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL27A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HPGD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1D
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEOX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX6
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: APC2
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2LI1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZMPSTE24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SATB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PYCR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX9
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL1A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL10A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A2
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: RPGRIP1L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT122
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAD21
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TREM2
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFL1
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTHLH
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKG2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALPL
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM231
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKH
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO5A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
gene_symbol: DYNC2I1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RALA
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TONSL
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disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A1
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disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A1
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disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: B3GAT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AFF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOTCH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARHGAP31
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CREBBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCNT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LONP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSMCE2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIK3R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC35D1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CKAP2L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KDELR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOSC5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RNPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: B3GALT6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAM16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: CRIPT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KYNU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPIB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PHEX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XYLT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SUMF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IHH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT7A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCA4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HSPA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TAB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SFRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: THPO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEU1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ESCO2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYCN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LEMD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OFD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PSAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHRHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: RUNX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIM37
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POC1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE4D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE4D
disease_id: OMIM:614613
disease_name: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: HAAO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAF3IP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX15
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALMS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: ADAMTSL2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTSL2
disease_id: OMIM:231050
disease_name: GELEOPHYSIC DYSPLASIA 1
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: B4GALT7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKAR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKAR1A
disease_id: OMIM:610489
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
gene_symbol: TCF12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1CB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XYLT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SH3PXD2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SALL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: UFSP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VDR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MANBA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMMECR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MNX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZSWIM6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIF7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT52
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANTXR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FZD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NMNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PISD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUZ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SF3B4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAPK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VPS33A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SRP54
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OSTM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXTL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LPIN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCUBE3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KCNJ2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNAJC21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COLEC11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP120
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT81
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDNRA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MECOM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGPS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS17
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KMT2A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KMT2A
disease_id: ORPHA:319182
disease_name: Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
gene_symbol: FMN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: H19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VAC14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CRTAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: PAPSS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFIH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNRPB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC17A5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MSX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ID4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GUSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MGP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GORAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACAN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBLN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX6
disease_id: ORPHA:3220
disease_name: Deafness-enamel hypoplasia-nail defects syndrome
Hearing loss-enamel hypoplasia-nail defects syndrome
Heimler syndrome
gene_symbol: SLC35C1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HS2ST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CPLANE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SGSH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM38B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GJA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLK4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RMRP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC45
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPR161
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BHLHA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SERPINF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PROKR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2I2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BPNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CASR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBBP8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRRK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF2AK3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SALL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGFALS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TYROBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZBTB16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHSR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFBR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC42
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIF22
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K20
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HES7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCTN3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SERPINH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPR1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HGSNAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYL11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAN2B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FKBP14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP152
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPRED2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HESX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FKBP10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDRGK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RSPRY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCYT1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RECQL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM111A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATP6V0A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM165
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIGI
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LYSET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NADSYN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAIP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTC21B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMBR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GCM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPER
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMNA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:2348
disease_name: Familial partial lipodystrophy, Dunnigan type
Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2
gene_symbol: LTBP3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP3
disease_id: ORPHA:969
disease_name: Acromicric dysplasia
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: OMIM:617809
disease_name: GELEOPHYSIC DYSPLASIA 3
gene_symbol: IL6ST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB33B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPINK5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NLRP3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACP5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DOCK6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MCM5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC29A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLS3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEK9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIAA0753
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRAF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP26B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KAT6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RASGRP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NXN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP27B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PHGDH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAPPC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDUA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL1RN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HNRNPC
disease_id: OMIM:620688
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: MED13L
disease_id: OMIM:616789
disease_name: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
gene_symbol: AGO1
disease_id: OMIM:620292
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: CTNND2
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: SEMA5A
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: TRAPPC9
disease_id: ORPHA:352530
disease_name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
gene_symbol: TECPR2
disease_id: OMIM:615031
disease_name: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
gene_symbol: TECPR2
disease_id: ORPHA:320385
disease_name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 49
HSAN due to TECPR2 mutation
SPG49
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: BRPF1
disease_id: OMIM:617333
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: ZBTB24
disease_id: OMIM:614069
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: ARMC5
disease_id: OMIM:615954
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: MRPL12
disease_id: OMIM:618951
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
gene_symbol: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: PHIP
disease_id: OMIM:617991
disease_name: CHUNG-JANSEN SYNDROME
gene_symbol: EIF2S3
disease_id: ORPHA:85282
disease_name: MEHMO syndrome
X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
gene_symbol: FBXO31
disease_id: OMIM:615979
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
gene_symbol: RECQL
disease_id: OMIM:620370
disease_name: RECON PROGEROID SYNDROME
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: SEPTIN9
disease_id: ORPHA:2901
disease_name: Neuralgic amyotrophy
Acute brachial plexus neuritis
Brachial plexus neuritis
Immune brachial plexus neuropathy
Mononeuritis multiplex with brachial predilection
Neuralgic shoulder amyotrophy
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES