Phenotype: Abnormal facial skeleton morphology (HP:0011821)
Associated genes and diseases:
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: MYH8
disease_id: OMIM:158300
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 7
gene_symbol: MYH8
disease_id: OMIM:608837
disease_name: CARNEY COMPLEX VARIANT
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: GBA1
disease_id: OMIM:230900
disease_name: GAUCHER DISEASE, TYPE II
gene_symbol: GBA1
disease_id: ORPHA:77260
disease_name: Gaucher disease type 2
Acute neuronopathic Gaucher disease
Infantile cerebral Gaucher disease
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: CRLF1
disease_id: OMIM:272430
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: PRRT2
disease_id: ORPHA:98810
disease_name: Paroxysmal non-kinesigenic dyskinesia
Paroxystic non-kinesigenic choreoathetosis
gene_symbol: PNKD
disease_id: ORPHA:98810
disease_name: Paroxysmal non-kinesigenic dyskinesia
Paroxystic non-kinesigenic choreoathetosis
gene_symbol: ADA
disease_id: ORPHA:277
disease_name: Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA deficiency
SCID due to adenosine deaminase deficiency
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: DNMT3B
disease_id: OMIM:242860
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: FMR1
disease_id: ORPHA:908
disease_name: Fragile X syndrome
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: IL2RG
disease_id: OMIM:312863
disease_name: COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: STX1A
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GSTM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GCLC
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC11A1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: DCTN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: KCNN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: MIF
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: EDNRA
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC9A3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HMOX1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC26A9
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HFE
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC6A14
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SERPINA1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CFTR
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CLCA4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM6
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: CYBB
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF2
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: CYBA
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF4
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF1
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: CYBC1
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: BTK
disease_id: ORPHA:47
disease_name: X-linked agammaglobulinemia
BTK-deficiency
Bruton type agammaglobulinemia
gene_symbol: BTK
disease_id: OMIM:307200
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: MGP
disease_id: OMIM:245150
disease_name: KEUTEL SYNDROME
gene_symbol: PSMB4
disease_id: OMIM:617591
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: RUNX2
disease_id: ORPHA:1452
disease_name: Cleidocranial dysplasia
Cleidocranial dysostosis
gene_symbol: NME8
disease_id: OMIM:610852
disease_name: CILIARY DYSKINESIA, PRIMARY, 6
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: IGSF3
disease_id: OMIM:149700
disease_name: LACRIMAL DUCT DEFECT
gene_symbol: TCF3
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: CD79A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: CD79B
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: SPI1
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: IGLL1
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: PIK3CD
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: IGHM
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: BLNK
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: LRRC8A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: COL2A1
disease_id: OMIM:108300
disease_name: STICKLER SYNDROME, TYPE I
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:166100
disease_name: Autosomal dominant otospondylomegaepiphyseal dysplasia
AD OSMED
Stickler syndrome type 3
Stickler syndrome, non-ocular type
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: COL2A1
disease_id: ORPHA:85166
disease_name: Platyspondylic dysplasia, Torrance type
PLSD-T
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
gene_symbol: SLC6A8
disease_id: ORPHA:52503
disease_name: X-linked creatine transporter deficiency
Creatine transporter deficiency
SLC6A8 deficiency
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: SF3B4
disease_id: ORPHA:1788
disease_name: Acrofacial dysostosis, Rodríguez type
gene_symbol: FBN1
disease_id: ORPHA:1885
disease_name: Isolated ectopia lentis
Ectopia lentis syndrome
Familial ectopia lentis
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ADAMTSL4
disease_id: ORPHA:1885
disease_name: Isolated ectopia lentis
Ectopia lentis syndrome
Familial ectopia lentis
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: BMP4
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: BMP4
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: POMGNT1
disease_id: OMIM:253280
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
gene_symbol: FGFR3
disease_id: ORPHA:53271
disease_name: Muenke syndrome
gene_symbol: FGFR3
disease_id: ORPHA:93262
disease_name: Crouzon syndrome-acanthosis nigricans syndrome
Crouzon-dermoskeletal syndrome
gene_symbol: FGFR3
disease_id: OMIM:146000
disease_name: HYPOCHONDROPLASIA
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: MBD5
disease_id: ORPHA:228402
disease_name: 2q23.1 microdeletion syndrome
Del(2)(q23.1)
Monosomy 2q23.1
Pseudo-Angelman syndrome
gene_symbol: INPPL1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: LMNA
disease_id: OMIM:176670
disease_name: HUTCHINSON-GILFORD PROGERIA SYNDROME
gene_symbol: PDZD8
disease_id: OMIM:620021
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES
gene_symbol: POGZ
disease_id: ORPHA:468678
disease_name: White-Sutton syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: BCR
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: CRKL
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: MAPK1
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: DHODH
disease_id: OMIM:263750
disease_name: POSTAXIAL ACROFACIAL DYSOSTOSIS
gene_symbol: DHODH
disease_id: ORPHA:246
disease_name: Postaxial acrofacial dysostosis
Acrofacial dysostosis, Genee-Wiedemann type
Mandibulofacial dysostosis with postaxial limb anomalies
Miller syndrome
POADS
Postaxial acrodysostosis
gene_symbol: PQBP1
disease_id: ORPHA:93946
disease_name: Hamel cerebro-palato-cardiac syndrome
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: PIGV
disease_id: OMIM:239300
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
gene_symbol: SLC26A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLC26A2
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: SLC26A2
disease_id: OMIM:600972
disease_name: ACHONDROGENESIS, TYPE IB
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
gene_symbol: XYLT2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: XYLT2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: PLOD3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PLOD3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: VCAN
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: GZF1
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: GZF1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: COL9A1
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A2
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: COL9A2
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A3
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: COL9A3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A1
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: COL11A1
disease_id: OMIM:228520
disease_name: FIBROCHONDROGENESIS 1
gene_symbol: COL11A1
disease_id: OMIM:604841
disease_name: STICKLER SYNDROME, TYPE II
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: ORPHA:560
disease_name: Marshall syndrome
gene_symbol: COL11A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A2
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: COL11A2
disease_id: OMIM:614524
disease_name: FIBROCHONDROGENESIS 2
gene_symbol: COL11A2
disease_id: OMIM:215150
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: ORPHA:166100
disease_name: Autosomal dominant otospondylomegaepiphyseal dysplasia
AD OSMED
Stickler syndrome type 3
Stickler syndrome, non-ocular type
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LRP2
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLITRK6
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: P3H2
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LOXL3
disease_id: OMIM:184840
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: LOXL3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: ZNHIT3
disease_id: ORPHA:2836
disease_name: PEHO syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
gene_symbol: POLE
disease_id: OMIM:615139
disease_name: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
gene_symbol: RDH11
disease_id: OMIM:616108
disease_name: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
gene_symbol: RDH11
disease_id: ORPHA:436245
disease_name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
gene_symbol: TMEM165
disease_id: OMIM:614727
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk
gene_symbol: FLNB
disease_id: OMIM:108721
disease_name: ATELOSTEOGENESIS, TYPE III
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
gene_symbol: FLNB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
gene_symbol: FGFR2
disease_id: ORPHA:93259
disease_name: Pfeiffer syndrome type 2
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: FGFR2
disease_id: OMIM:614592
disease_name: BENT BONE DYSPLASIA SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:1555
disease_name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
gene_symbol: FGFR2
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:180750
disease_name: ROBINOW-SORAUF SYNDROME
gene_symbol: PDE4D
disease_id: OMIM:614613
disease_name: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: KIF7
disease_id: OMIM:607131
disease_name: AL-GAZALI-BAKALINOVA SYNDROME
gene_symbol: FOXC1
disease_id: OMIM:602482
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 3
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: POR
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME
gene_symbol: NGF
disease_id: ORPHA:64752
disease_name: Hereditary sensory and autonomic neuropathy type 5
CIP
Congenital insensitivity to pain and thermal analgesia
HSAN5
Hereditary sensory and autonomic neuropathy type V
gene_symbol: NTRK1
disease_id: ORPHA:64752
disease_name: Hereditary sensory and autonomic neuropathy type 5
CIP
Congenital insensitivity to pain and thermal analgesia
HSAN5
Hereditary sensory and autonomic neuropathy type V
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: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
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: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: CNOT3
disease_id: OMIM:618672
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: ARID1B
disease_id: ORPHA:251056
disease_name: 6q25.2q25.3 microdeletion syndrome
Del(6)(q25)
Monosomy 6q25
gene_symbol: RPS26
disease_id: OMIM:613309
disease_name: DIAMOND-BLACKFAN ANEMIA 10
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: CANT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: KIF22
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:619543
disease_name: BOUDIN-MORTIER SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: SMAD3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFBR2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:300989
disease_name: MEESTER-LOEYS SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: HSPG2
disease_id: OMIM:224410
disease_name: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: FOXP1
disease_id: OMIM:613670
disease_name: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: STAG2
disease_id: ORPHA:521258
disease_name: Xq25 microduplication syndrome
Dup(X)(q25)
Xq25 microtriplication
gene_symbol: NECTIN1
disease_id: OMIM:225060
disease_name: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
gene_symbol: TGDS
disease_id: ORPHA:1388
disease_name: Catel-Manzke syndrome
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly-Pierre Robin syndrome
Micrognathia digital syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
gene_symbol: RAB3GAP1
disease_id: ORPHA:1387
disease_name: Cataract-intellectual disability-hypogonadism syndrome
Martsolf syndrome
gene_symbol: RAB3GAP2
disease_id: ORPHA:1387
disease_name: Cataract-intellectual disability-hypogonadism syndrome
Martsolf syndrome
gene_symbol: LARP7
disease_id: ORPHA:319671
disease_name: Alazami syndrome
Microcephalic primordial dwarfism, Alazami type
gene_symbol: LARP7
disease_id: OMIM:615071
disease_name: ALAZAMI SYNDROME
gene_symbol: CCBE1
disease_id: OMIM:235510
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
gene_symbol: TBX22
disease_id: ORPHA:921
disease_name: Abruzzo-Erickson syndrome
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
gene_symbol: BUB1B
disease_id: OMIM:257300
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GAT3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PIEZO2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GALT6
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
gene_symbol: GORAB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: GORAB
disease_id: OMIM:231070
disease_name: GERODERMA OSTEODYSPLASTICUM
gene_symbol: GORAB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: GORAB
disease_id: ORPHA:2078
disease_name: Geroderma osteodysplastica
gene_symbol: CHST3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CHST3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CSGALNACT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: BBS7
disease_id: OMIM:615984
disease_name: BARDET-BIEDL SYNDROME 7
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: POLR1C
disease_id: OMIM:248390
disease_name: TREACHER COLLINS SYNDROME 3
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: OBSL1
disease_id: OMIM:612921
disease_name: THREE M SYNDROME 2
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: NSDHL
disease_id: ORPHA:251383
disease_name: CK syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
gene_symbol: NSDHL
disease_id: OMIM:300831
disease_name: CK SYNDROME
gene_symbol: PTH1R
disease_id: OMIM:215045
disease_name: CHONDRODYSPLASIA, BLOMSTRAND TYPE
gene_symbol: PTH1R
disease_id: ORPHA:50945
disease_name: Blomstrand lethal chondrodysplasia
BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: BMP2
disease_id: ORPHA:261295
disease_name: 20p12.3 microdeletion syndrome
Del(20)(p12.3)
Monosomy 20p12.3
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: ACAN
disease_id: OMIM:612813
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: HS6ST2
disease_id: OMIM:301025
disease_name: PAGANINI-MIOZZO SYNDROME
gene_symbol: DLG3
disease_id: OMIM:300850
disease_name: MENTAL RETARDATION, X-LINKED 90
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: PYCR1
disease_id: ORPHA:2078
disease_name: Geroderma osteodysplastica
gene_symbol: CUL7
disease_id: OMIM:273750
disease_name: THREE M SYNDROME 1
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: TAT
disease_id: ORPHA:28378
disease_name: Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
gene_symbol: SHH
disease_id: OMIM:142945
disease_name: HOLOPROSENCEPHALY 3
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: COL1A1
disease_id: OMIM:130060
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
gene_symbol: COL1A1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TBX4
disease_id: ORPHA:261279
disease_name: 17q23.1q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)
Monosomy 17q23.1q23.2
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: LIFR
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: BMP1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINF1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: NBAS
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MESD
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MIA3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KIF5B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PHLDB1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CREB3L1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT11
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SLC10A7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SPARC
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC16B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC24D
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P3H1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: ALPL
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINH1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINH1
disease_id: OMIM:613848
disease_name: OSTEOGENESIS IMPERFECTA, TYPE X
gene_symbol: IFITM5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CCDC134
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CRTAP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLS3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TENT5A
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TAPT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SGMS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: FKBP10
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COPB2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: AMBN
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KDELR2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: DSPP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TMEM38B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PPIB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: EFTUD2
disease_id: OMIM:610536
disease_name: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
gene_symbol: EFTUD2
disease_id: ORPHA:79113
disease_name: Mandibulofacial dysostosis-microcephaly syndrome
MFDM syndrome
Mandibulofacial dysostosis, Guion-Almeida type
gene_symbol: POLR1B
disease_id: OMIM:618939
disease_name: TREACHER COLLINS SYNDROME 4
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: GRIA3
disease_id: ORPHA:364028
disease_name: X-linked intellectual disability due to GRIA3 mutations
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: PSMC3
disease_id: OMIM:619354
disease_name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
gene_symbol: TRIM33
disease_id: ORPHA:2412
disease_name: Dislocation of the hip-dysmorphism syndrome
Collins-Pope syndrome
gene_symbol: TONSL
disease_id: OMIM:271510
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
gene_symbol: ATP6V0A2
disease_id: OMIM:219200
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: KCNE5
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: ACSL4
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: AMMECR1
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: OMIM:613717
disease_name: TREACHER COLLINS SYNDROME 2
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: COG4
disease_id: ORPHA:85172
disease_name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: PYCR2
disease_id: OMIM:616420
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 10
gene_symbol: AGL
disease_id: OMIM:232400
disease_name: GLYCOGEN STORAGE DISEASE III
gene_symbol: RNU4ATAC
disease_id: ORPHA:2636
disease_name: Microcephalic osteodysplastic primordial dwarfism types I and III
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: NDP
disease_id: ORPHA:649
disease_name: Norrie disease
Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: FAM50A
disease_id: OMIM:300261
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: FZD2
disease_id: ORPHA:93328
disease_name: Autosomal dominant omodysplasia
gene_symbol: PAX3
disease_id: OMIM:122880
disease_name: CRANIOFACIAL-DEAFNESS-HAND SYNDROME
gene_symbol: SH3BP2
disease_id: ORPHA:184
disease_name: Cherubism
CRBM
gene_symbol: IGBP1
disease_id: OMIM:300472
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
gene_symbol: IGBP1
disease_id: ORPHA:52055
disease_name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Graham-Cox syndrome
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: MAMLD1
disease_id: ORPHA:456328
disease_name: X-linked myotubular myopathy-abnormal genitalia syndrome
Xq28 contiguous gene deletion syndrome
gene_symbol: MTM1
disease_id: ORPHA:456328
disease_name: X-linked myotubular myopathy-abnormal genitalia syndrome
Xq28 contiguous gene deletion syndrome
gene_symbol: CNTNAP1
disease_id: OMIM:618186
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
gene_symbol: UBA2
disease_id: OMIM:619959
disease_name: ACCES SYNDROME
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: TMEM70
disease_id: ORPHA:1194
disease_name: TMEM70-related mitochondrial encephalo-cardio-myopathy
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: SLC6A9
disease_id: OMIM:617301
disease_name: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
gene_symbol: NUDT2
disease_id: OMIM:619844
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY
gene_symbol: DIS3L2
disease_id: ORPHA:2849
disease_name: Perlman syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: ARNT2
disease_id: OMIM:615926
disease_name: WEBB-DATTANI SYNDROME
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
gene_symbol: RSRC1
disease_id: OMIM:618402
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: ASXL1
disease_id: ORPHA:97297
disease_name: Bohring-Opitz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: AUTS2
disease_id: ORPHA:352490
disease_name: Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency
AUTS2 syndrome
gene_symbol: TMEM107
disease_id: OMIM:617563
disease_name: OROFACIODIGITAL SYNDROME XVI
gene_symbol: KIF15
disease_id: OMIM:619981
disease_name: BRADDOCK-CAREY SYNDROME 2
gene_symbol: MAPKAPK5
disease_id: OMIM:619869
disease_name: NEUROCARDIOFACIODIGITAL SYNDROME
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: UBE3B
disease_id: ORPHA:2707
disease_name: Oculocerebrofacial syndrome, Kaufman type
gene_symbol: EDN1
disease_id: OMIM:615706
disease_name: AURICULOCONDYLAR SYNDROME 3
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: EXOC7
disease_id: OMIM:619072
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: OTUD6B
disease_id: OMIM:617452
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: MYCN
disease_id: OMIM:620748
disease_name: MEGALENCEPHALY-POLYDACTYLY SYNDROME
gene_symbol: RPL5
disease_id: OMIM:612561
disease_name: DIAMOND-BLACKFAN ANEMIA 6
gene_symbol: IGF2
disease_id: OMIM:616489
disease_name: SILVER-RUSSELL SYNDROME 3
gene_symbol: ADAMTS3
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: SLC4A10
disease_id: OMIM:620746
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
gene_symbol: ZBTB24
disease_id: OMIM:614069
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
gene_symbol: TXNDC15
disease_id: OMIM:619879
disease_name: MECKEL SYNDROME 14
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: SPEG
disease_id: OMIM:615959
disease_name: MYOPATHY, CENTRONUCLEAR, 5
gene_symbol: SPEG
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: ACTA1
disease_id: OMIM:161800
disease_name: NEMALINE MYOPATHY 3
gene_symbol: EYA1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: EYA1
disease_id: OMIM:602588
disease_name: BRANCHIOOTIC SYNDROME 1
gene_symbol: SIX5
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: SIX1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: THOC6
disease_id: ORPHA:363444
disease_name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BBIS
Beaulieu-Boycott-Innes syndrome
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: NFIX
disease_id: OMIM:614753
disease_name: SOTOS SYNDROME 2
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: NFIX
disease_id: ORPHA:561
disease_name: Marshall-Smith syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
gene_symbol: LGI4
disease_id: OMIM:617468
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT
gene_symbol: NR2F1
disease_id: OMIM:615722
disease_name: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME
gene_symbol: DGCR8
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR6
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: ESS2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: POLA1
disease_id: ORPHA:163976
disease_name: X-linked intellectual disability, Van Esch type
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: DBR1
disease_id: OMIM:620510
disease_name: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: RTL1
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: COG7
disease_id: ORPHA:79333
disease_name: COG7-CDG
CDG syndrome type IIe
CDG-IIe
CDG2E
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: EMC1
disease_id: ORPHA:480898
disease_name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
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: NARS1
disease_id: OMIM:619092
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
gene_symbol: CASK
disease_id: ORPHA:163937
disease_name: X-linked intellectual disability, Najm type
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: CRPPA
disease_id: OMIM:614643
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
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: CPAP
disease_id: OMIM:613676
disease_name: SECKEL SYNDROME 4
gene_symbol: CEP295
disease_id: OMIM:620767
disease_name: SECKEL SYNDROME 11
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: OMIM:619691
disease_name: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: FBXO31
disease_id: OMIM:615979
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
gene_symbol: NSD1
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CBL
disease_id: OMIM:613563
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: EXOSC1
disease_id: OMIM:619304
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: RAP1GDS1
disease_id: OMIM:620655
disease_name: ALFADHEL SYNDROME
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: INTU
disease_id: OMIM:617926
disease_name: OROFACIODIGITAL SYNDROME XVII
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: BIN1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: RYR1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: TTN
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: COG5
disease_id: ORPHA:263487
disease_name: COG5-CDG
CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: TNPO2
disease_id: OMIM:619556
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
gene_symbol: COL13A1
disease_id: OMIM:616720
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 19
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: KPTN
disease_id: OMIM:615637
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
gene_symbol: SIM1
disease_id: ORPHA:171829
disease_name: 6q16 microdeletion syndrome
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: CEP135
disease_id: OMIM:614673
disease_name: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: RARB
disease_id: OMIM:615524
disease_name: MICROPHTHALMIA, SYNDROMIC 12
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: FANCB
disease_id: ORPHA:3412
disease_name: VACTERL with hydrocephalus
Sujansky-Leonard syndrome
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
gene_symbol: FTO
disease_id: OMIM:612938
disease_name: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: FUT8
disease_id: OMIM:618005
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
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: CDT1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC4
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC45
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: GMNN
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ATPAF2
disease_id: OMIM:604273
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: NDUFB11
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: COX7B
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: HCCS
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: FOXE1
disease_id: ORPHA:1226
disease_name: Bamforth-Lazarus syndrome
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Bamforth syndrome
Hypothyroidism-cleft palate syndrome
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: ARCN1
disease_id: OMIM:617164
disease_name: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
gene_symbol: FRMPD4
disease_id: OMIM:300983
disease_name: MENTAL RETARDATION, X-LINKED 104
gene_symbol: ALG9
disease_id: OMIM:263210
disease_name: GILLESSEN-KAESBACH-NISHIMURA SYNDROME
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: WBP11
disease_id: OMIM:619227
disease_name: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: ACTB
disease_id: OMIM:243310
disease_name: BARAITSER-WINTER SYNDROME 1
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: TRIP11
disease_id: ORPHA:166272
disease_name: Odontochondrodysplasia
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
ODCD
gene_symbol: AP3D1
disease_id: OMIM:617050
disease_name: HERMANSKY-PUDLAK SYNDROME 10
gene_symbol: ACTG1
disease_id: OMIM:614583
disease_name: BARAITSER-WINTER SYNDROME 2
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: HYMAI
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: PLAGL1
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: MYL11
disease_id: OMIM:619110
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1C
gene_symbol: CTU2
disease_id: OMIM:618142
disease_name: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
gene_symbol: SRCAP
disease_id: OMIM:619595
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
gene_symbol: RSPO2
disease_id: OMIM:618022
disease_name: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
gene_symbol: PPP3CA
disease_id: OMIM:618265
disease_name: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: BNC2
disease_id: ORPHA:93110
disease_name: Posterior urethral valve
PUV
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: NUP88
disease_id: OMIM:618393
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 4
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: DHCR24
disease_id: ORPHA:35107
disease_name: Desmosterolosis
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: CCDC88A
disease_id: OMIM:617507
disease_name: PEHO-LIKE SYNDROME
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: WDR11
disease_id: OMIM:620237
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: SLC3A1
disease_id: ORPHA:163690
disease_name: Hypotonia-cystinuria syndrome
HCS
gene_symbol: PREPL
disease_id: ORPHA:163690
disease_name: Hypotonia-cystinuria syndrome
HCS
gene_symbol: CEP152
disease_id: OMIM:613823
disease_name: SECKEL SYNDROME 5
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: GLDN
disease_id: OMIM:617194
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 11
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: PSMD12
disease_id: OMIM:617516
disease_name: STANKIEWICZ-ISIDOR SYNDROME
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: KAT6B
disease_id: ORPHA:3047
disease_name: Blepharophimosis-intellectual disability syndrome, SBBYS type
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYS variant of Ohdo syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
gene_symbol: TCTN3
disease_id: OMIM:614815
disease_name: JOUBERT SYNDROME 18
gene_symbol: PIK3C2A
disease_id: ORPHA:557003
disease_name: Oculoskeletodental syndrome
Oculo-skeleto-dental syndrome
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: ITGA8
disease_id: OMIM:191830
disease_name: RENAL HYPODYSPLASIA/APLASIA 1
gene_symbol: ABAT
disease_id: OMIM:613163
disease_name: GABA-TRANSAMINASE DEFICIENCY
gene_symbol: PUF60
disease_id: OMIM:615583
disease_name: VERHEIJ SYNDROME
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: HYLS1
disease_id: ORPHA:2189
disease_name: Hydrolethalus
gene_symbol: IGF1R
disease_id: OMIM:270450
disease_name: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
gene_symbol: MYH11
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ACTA2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: PRKG1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FOXE3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MAT2A
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: HEY2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MYLK
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: ALG14
disease_id: OMIM:619031
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: MUSK
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: GFPT1
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: TBC1D7
disease_id: OMIM:248000
disease_name: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: KDM6B
disease_id: OMIM:618505
disease_name: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
gene_symbol: RAF1
disease_id: OMIM:611554
disease_name: LEOPARD SYNDROME 2
gene_symbol: RAF1
disease_id: OMIM:611553
disease_name: NOONAN SYNDROME 5
gene_symbol: RAF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
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:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ERCC8
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: ERCC6
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: RECQL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: OPHN1
disease_id: OMIM:300486
disease_name: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
gene_symbol: OPHN1
disease_id: ORPHA:137831
disease_name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OPHN1 syndrome
Oligophrenin-1 syndrome
gene_symbol: SLC9A6
disease_id: OMIM:300243
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: OMIM:615828
disease_name: VULTO-VAN SILFHOUT-DE VRIES SYNDROME
gene_symbol: WDR62
disease_id: OMIM:604317
disease_name: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
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: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: ATP6V0A1
disease_id: OMIM:619971
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
gene_symbol: MSTO1
disease_id: OMIM:617675
disease_name: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: AFF3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MATN3
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: ALG3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHSY1
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: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
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: IFT80
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAC3
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: GLB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
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: DONSON
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: EOGT
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: PKDCC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TNFSF11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
gene_symbol: PEX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPAT
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: PPM1D
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: DYNLT2B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLCO2A1
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: PRKACB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
gene_symbol: NIPBL
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: 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: 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: OTX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPR
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: 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: ANO5
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: ENPP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBXW4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PSMB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PROP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM216
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HMGA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT10B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPP1R21
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COMP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNX10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DNA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF23
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKACA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IARS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: VPS35L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CC2D2A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EVC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CFAP410
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAM20B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXOC6B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARSL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PNPLA6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LHX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NANS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GLI3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLAG1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CTSK
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC39A13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LAMA5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT140
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP3K7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ECEL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STAT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: GALNS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: TRPV4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SULF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARSB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RPL10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: RPL10
disease_id: ORPHA:435938
disease_name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
gene_symbol: MIR140
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GINS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EFNB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ATR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPTG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGSF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COG1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DPCD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAPPA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EIF4A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CLCN5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLCB3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LZTR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: STIM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RIPPLY2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL27A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HPGD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MEOX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: APC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: APC2
disease_id: OMIM:617169
disease_name: SOTOS SYNDROME 3
gene_symbol: DYNC2LI1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOX9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL10A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RPGRIP1L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLCB4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT122
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAD21
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TREM2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTHLH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKG2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: LBX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM231
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLCO5A1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNAI3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2I1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHST14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RALA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SHOC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MET
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARHGAP31
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RPL13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LONP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CKAP2L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TNFRSF11B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RNPC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAM16
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CRIPT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KYNU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ADAMTS10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PHEX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SUMF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IHH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT7A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCA4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HSPA9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TAB2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: THPO
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NEU1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LEMD3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ANKRD11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PSAT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GHRHR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PITX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AGA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
gene_symbol: CHST11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRIM37
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HOXA11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POC1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: HAAO
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRAF3IP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPECC1L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX15
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCF12
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PITX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RIT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CTSA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DPF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPP1CB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CENPE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SH3PXD2B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SH3PXD2B
disease_id: ORPHA:137834
disease_name: Frank-Ter Haar syndrome
Ter Haar syndrome
gene_symbol: LTBP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SALL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: UFSP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VDR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MANBA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMX1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MNX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZSWIM6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HOXA13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT52
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ANTXR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDH3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMOC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NMNAT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PISD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FUZ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VPS33A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SRP54
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OSTM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXTL3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LPIN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SCUBE3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COLEC11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT81
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MECOM
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AGPS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ADAMTS17
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KMT2A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FMN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: H19
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VAC14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAPSS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFIH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC17A5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MSX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ID4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GUSB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBLN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC35C1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: CPLANE1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SGSH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NIN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLK4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RMRP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RMRP
disease_id: OMIM:607095
disease_name: ANAUXETIC DYSPLASIA 1
gene_symbol: GPR161
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BHLHA9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GHR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EVC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALG12
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PROKR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2I2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BPNT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CASR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LRRK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EIF2AK3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SALL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGFALS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TYROBP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZBTB16
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GHSR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC42
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDH2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DMP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP3K20
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HES7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCE1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPTAB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: BMPR1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HGSNAT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RRAS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPRED2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HESX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DDRGK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PCYT1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LTBP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RIGI
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LYSET
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NADSYN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRAIP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TTC21B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP63
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR3B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LHX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMBR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GCM2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMPER
disease_id: OMIM:131300
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: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: RAB33B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: SPINK5
disease_id: OMIM:131300
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: 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: NEK9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIAA0753
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: BRF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RASGRP2
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: CYP27B1
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: FGD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDUA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDUA
disease_id: OMIM:607016
disease_name: SCHEIE SYNDROME
gene_symbol: IL1RN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: CLIC2
disease_id: ORPHA:324410
disease_name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
gene_symbol: NDST1
disease_id: OMIM:616116
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: THUMPD1
disease_id: OMIM:619989
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: UPF3B
disease_id: OMIM:300676
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: SLC6A17
disease_id: ORPHA:457212
disease_name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
gene_symbol: SLC6A17
disease_id: OMIM:616269
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: UBE3A
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: UBE3A
disease_id: ORPHA:98795
disease_name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
UPD(15)pat
gene_symbol: UBE3A
disease_id: ORPHA:411511
disease_name: Angelman syndrome due to a point mutation
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: TXNL4A
disease_id: OMIM:608572
disease_name: BURN-MCKEOWN SYNDROME
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: SLC12A2
disease_id: OMIM:619080
disease_name: KILQUIST SYNDROME
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: MEN1
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
gene_symbol: PTCH1
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: PTCH2
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: SUFU
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: SELENON
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: MYH7
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: HERC2
disease_id: OMIM:615516
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: AP4M1
disease_id: OMIM:612936
disease_name: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
gene_symbol: OCA2
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: AIMP2
disease_id: OMIM:618006
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 17
gene_symbol: FLCN
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
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: TNNI2
disease_id: OMIM:601680
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B1
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: P4HTM
disease_id: OMIM:618493
disease_name: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
gene_symbol: INSR
disease_id: OMIM:262190
disease_name: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: FOXG1
disease_id: ORPHA:261144
disease_name: FOXG1 syndrome due to 14q12 microdeletion
Del(14)(q12)
Monosomy 14q12
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: TPRKB
disease_id: OMIM:617731
disease_name: GALLOWAY-MOWAT SYNDROME 5
gene_symbol: NHS
disease_id: ORPHA:627
disease_name: Nance-Horan syndrome
gene_symbol: HNF1B
disease_id: ORPHA:93111
disease_name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
ADTKD-HNF1B
HNF1B-MODY
HNF1B-related nephropathy
MODY5
Maturity-onset diabetes of the young type 5
RCAD syndrome
Renal cysts and diabetes syndrome
Renal dysfunction-early-onset diabetes syndrome
gene_symbol: STEEP1
disease_id: OMIM:301013
disease_name: MENTAL RETARDATION, X-LINKED 107
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: GRIA4
disease_id: OMIM:617864
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
gene_symbol: COLQ
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: LAMB2
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: NSRP1
disease_id: OMIM:620001
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: PPARG
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: FOS
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: DOCK3
disease_id: OMIM:618292
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
gene_symbol: IL1RAPL1
disease_id: OMIM:300143
disease_name: MENTAL RETARDATION, X-LINKED 21
gene_symbol: KIF11
disease_id: OMIM:152950
disease_name: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
gene_symbol: CSNK2B
disease_id: OMIM:618732
disease_name: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
gene_symbol: MYOD1
disease_id: OMIM:618975
disease_name: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
gene_symbol: ANTXR1
disease_id: ORPHA:2067
disease_name: GAPO syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: RELN
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: KATNB1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: NDE1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: FBXL3
disease_id: OMIM:606220
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: PRORP
disease_id: OMIM:619737
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54
gene_symbol: TRIP4
disease_id: OMIM:616866
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
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: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
gene_symbol: PRDM13
disease_id: OMIM:619909
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 17
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SLC35A3
disease_id: OMIM:615553
disease_name: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: KCNK9
disease_id: OMIM:612292
disease_name: BIRK-BAREL SYNDROME
gene_symbol: PAX1
disease_id: OMIM:615560
disease_name: OTOFACIOCERVICAL SYNDROME 2
gene_symbol: OCLN
disease_id: OMIM:251290
disease_name: PSEUDO-TORCH SYNDROME 1
gene_symbol: TUBA1A
disease_id: ORPHA:171680
disease_name: Lissencephaly due to TUBA1A mutation
gene_symbol: YARS1
disease_id: OMIM:619418
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: FGF3
disease_id: ORPHA:2791
disease_name: Otodental syndrome
Globodontia
Otodental dysplasia
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: UBB
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: GRHL3
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: RIC1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLG1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: CDH1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: PDGFRA
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLX4
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: MSX1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: COBLL1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGEF38
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGAP29
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ZDHHC9
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: SMCHD1
disease_id: ORPHA:2250
disease_name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
gene_symbol: TRMT1
disease_id: OMIM:618302
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: DKC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TINF2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NHP2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: WRAP53
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: RTEL1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NPM1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERC
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NOP10
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: PARN
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERT
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TYMS
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TUBGCP2
disease_id: OMIM:618737
disease_name: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: CBFB
disease_id: OMIM:620099
disease_name: CLEIDOCRANIAL DYSPLASIA 2
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: KDM5A
disease_id: OMIM:620820
disease_name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
gene_symbol: CHRNA1
disease_id: OMIM:608930
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
gene_symbol: CHRNA1
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: KNL1
disease_id: OMIM:604321
disease_name: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: CDK5
disease_id: OMIM:616342
disease_name: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
gene_symbol: AFG2B
disease_id: OMIM:619616
disease_name: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: SCYL2
disease_id: OMIM:618766
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: SCYL2
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: MYBPC1
disease_id: OMIM:618524
disease_name: MYOPATHY, CONGENITAL, WITH TREMOR
gene_symbol: CHD5
disease_id: OMIM:619873
disease_name: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME
gene_symbol: CHD5
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: DPM2
disease_id: OMIM:615042
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
gene_symbol: DPM2
disease_id: ORPHA:329178
disease_name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
CDG syndrome type Iu
CDG-Iu
CDG1U
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type Iu
DPM2-CDG
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: OMIM:606164
disease_name: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: OMIM:300946
disease_name: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: SH2B1
disease_id: ORPHA:261197
disease_name: Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
gene_symbol: PAX7
disease_id: OMIM:618578
disease_name: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
gene_symbol: PURA
disease_id: ORPHA:314655
disease_name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
5q31.3 microdeletion syndrome
Del(5)(q31.3)
Monosomy 5q31.3
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: PRRX1
disease_id: OMIM:202650
disease_name: AGNATHIA-OTOCEPHALY COMPLEX
gene_symbol: DPAGT1
disease_id: OMIM:608093
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
gene_symbol: NUP107
disease_id: OMIM:618348
disease_name: GALLOWAY-MOWAT SYNDROME 7
gene_symbol: NUP107
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: NUP107
disease_id: OMIM:616730
disease_name: NEPHROTIC SYNDROME, TYPE 11
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
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: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
gene_symbol: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental syndrome
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: PLXND1
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: ZNF335
disease_id: OMIM:615095
disease_name: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
gene_symbol: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: FOXI3
disease_id: OMIM:620444
disease_name: CRANIOFACIAL MICROSOMIA 2
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: B9D2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: UBA1
disease_id: OMIM:301830
disease_name: SPINAL MUSCULAR ATROPHY, X-LINKED 2
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: HDAC9
disease_id: OMIM:620457
disease_name: AURICULOCONDYLAR SYNDROME 4
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: KIF21A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: RAPSN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: RAPSN
disease_id: OMIM:618388
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 2
gene_symbol: DOK7
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: DOK7
disease_id: OMIM:618389
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 3
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: SMO
disease_id: OMIM:241800
disease_name: PALLISTER-HALL-LIKE SYNDROME
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: ABCD1
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: BCAP31
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: GRB10
disease_id: ORPHA:96182
disease_name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
UPD(7)mat
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: TUBB
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: FLVCR2
disease_id: OMIM:225790
disease_name: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME
gene_symbol: TNRC6B
disease_id: OMIM:619243
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
gene_symbol: PLAA
disease_id: ORPHA:521426
disease_name: PLAA-associated neurodevelopmental disorder
PLAAND
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
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: PPP1R15B
disease_id: OMIM:616817
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: SLC25A19
disease_id: OMIM:607196
disease_name: MICROCEPHALY, AMISH TYPE
gene_symbol: SLC25A19
disease_id: ORPHA:99742
disease_name: Amish lethal microcephaly
gene_symbol: EMG1
disease_id: OMIM:211180
disease_name: BOWEN-CONRADI SYNDROME
gene_symbol: EMG1
disease_id: ORPHA:1270
disease_name: Bowen-Conradi syndrome
Bowen syndrome, Hutterite type
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: SSR4
disease_id: OMIM:300934
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
gene_symbol: SLX4
disease_id: OMIM:613951
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP P
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: GOLGA2
disease_id: OMIM:620240
disease_name: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: WASHC5
disease_id: OMIM:220210
disease_name: RITSCHER-SCHINZEL SYNDROME 1
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: TOE1
disease_id: ORPHA:284339
disease_name: Pontocerebellar hypoplasia type 7
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: MINPP1
disease_id: ORPHA:284339
disease_name: Pontocerebellar hypoplasia type 7
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
gene_symbol: YRDC
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: WDR73
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: OSGEP
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: OSGEP
disease_id: OMIM:617729
disease_name: GALLOWAY-MOWAT SYNDROME 3
gene_symbol: WDR4
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: NUP133
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: GON7
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: TP53RK
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: LAGE3
disease_id: ORPHA:2065
disease_name: Galloway-Mowat syndrome
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: COL12A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL12A1
disease_id: ORPHA:536516
disease_name: Myopathic Ehlers-Danlos syndrome
EDS/myopathy overlap syndrome
Myopathic EDS
gene_symbol: COL6A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A2
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A2
disease_id: OMIM:620727
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B
gene_symbol: COL6A3
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
gene_symbol: DPH1
disease_id: OMIM:616901
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
gene_symbol: DPH1
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BUB3
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: TRIP13
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: ZNF292
disease_id: OMIM:619188
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
gene_symbol: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNN3
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: HDAC6
disease_id: ORPHA:163966
disease_name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
gene_symbol: HOXB1
disease_id: OMIM:614744
disease_name: FACIAL PARESIS, HEREDITARY CONGENITAL, 3
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: ZBTB18
disease_id: ORPHA:36367
disease_name: Distal deletion 1q syndrome
Distal monosomy 1q
Monosomy 1qter
Telomeric deletion 1q
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: NUP85
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATRIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PUS1
disease_id: ORPHA:2598
disease_name: Mitochondrial myopathy and sideroblastic anemia
MLASA
Myopathy, lactic acidosis and sideroblastic anemia
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: YARS2
disease_id: ORPHA:2598
disease_name: Mitochondrial myopathy and sideroblastic anemia
MLASA
Myopathy, lactic acidosis and sideroblastic anemia
gene_symbol: RASA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PROX1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SVEP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ANGPT2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RAC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: EPHB4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CELSR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PIEZO1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PIEZO1
disease_id: OMIM:616843
disease_name: LYMPHATIC MALFORMATION 6
gene_symbol: FOXC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GATA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RORC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NAGA
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LYVE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FLT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ARAP3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TIE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ERG
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FBXL7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MDFIC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: VEGFC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PTPN14
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: ALG1
disease_id: OMIM:608540
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: ATP6AP2
disease_id: OMIM:301045
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: BLTP1
disease_id: OMIM:617822
disease_name: ALKURAYA-KUCINSKAS SYNDROME
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: MAPRE2
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
gene_symbol: NALCN
disease_id: OMIM:615419
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: NALCN
disease_id: ORPHA:562528
disease_name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome
gene_symbol: NALCN
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: PSPH
disease_id: ORPHA:79350
disease_name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
PSPH deficiency, infantile/juvenile form
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: PI4KA
disease_id: OMIM:616531
disease_name: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
gene_symbol: PI4KA
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: ARMC9
disease_id: OMIM:617622
disease_name: JOUBERT SYNDROME 30
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: ASPM
disease_id: OMIM:608716
disease_name: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: CHRNG
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: CHRNG
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: RAB18
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB18
disease_id: OMIM:614222
disease_name: WARBURG MICRO SYNDROME 3
gene_symbol: TBC1D20
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: TOPORS
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: PDE6D
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: FAM149B1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: STAC3
disease_id: ORPHA:168572
disease_name: Native American myopathy
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
gene_symbol: ANKLE2
disease_id: OMIM:616681
disease_name: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: SPRTN
disease_id: OMIM:616200
disease_name: RUIJS-AALFS SYNDROME
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
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: MITF
disease_id: OMIM:617306
disease_name: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
gene_symbol: C1S
disease_id: ORPHA:75392
disease_name: Periodontal Ehlers-Danlos syndrome
EDS VIII
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome, periodontitis type
Periodontal EDS
pEDS
gene_symbol: C1R
disease_id: ORPHA:75392
disease_name: Periodontal Ehlers-Danlos syndrome
EDS VIII
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome, periodontitis type
Periodontal EDS
pEDS
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: SEC31A
disease_id: OMIM:618651
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: POLD1
disease_id: OMIM:615381
disease_name: MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
gene_symbol: KIDINS220
disease_id: OMIM:619501
disease_name: VENTRICULOMEGALY AND ARTHROGRYPOSIS
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: RBM10
disease_id: ORPHA:2886
disease_name: TARP syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: ANK1
disease_id: ORPHA:251066
disease_name: 8p11.2 deletion syndrome
Del(8)(p11.2)
Monosomy 8p11.2
gene_symbol: KIF14
disease_id: OMIM:616258
disease_name: MECKEL SYNDROME 12
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: MAN2C1
disease_id: OMIM:619775
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION 2
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
gene_symbol: KCNJ6
disease_id: ORPHA:435628
disease_name: Keppen-Lubinsky syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
gene_symbol: PRUNE1
disease_id: ORPHA:544469
disease_name: PRUNE1-related neurological syndrome
gene_symbol: PAK2
disease_id: OMIM:618458
disease_name: KNOBLOCH SYNDROME 2
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: CAPRIN1
disease_id: OMIM:620782
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: CPE
disease_id: OMIM:619326
disease_name: BDV SYNDROME
gene_symbol: RYR3
disease_id: OMIM:620310
disease_name: CONGENITAL MYOPATHY 20
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: ARX
disease_id: ORPHA:452
disease_name: X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
gene_symbol: ARX
disease_id: OMIM:300215
disease_name: LISSENCEPHALY, X-LINKED, 2
gene_symbol: RHOBTB2
disease_id: OMIM:618004
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
gene_symbol: CHUK
disease_id: OMIM:619339
disease_name: BARTSOCAS-PAPAS SYNDROME 2
gene_symbol: MARS1
disease_id: OMIM:620323
disease_name: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: COASY
disease_id: OMIM:618266
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
gene_symbol: PHF21A
disease_id: ORPHA:52022
disease_name: Potocki-Shaffer syndrome
11p11.2 deletion
Proximal 11p deletion syndrome
gene_symbol: DICER1
disease_id: OMIM:618272
disease_name: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: GDF11
disease_id: OMIM:619122
disease_name: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
gene_symbol: CCDC32
disease_id: OMIM:619123
disease_name: CARDIOFACIONEURODEVELOPMENTAL SYNDROME
gene_symbol: PAX6
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: WT1
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: BDNF
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: PGM1
disease_id: OMIM:614921
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
gene_symbol: BICD2
disease_id: OMIM:618291
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
gene_symbol: SUPT16H
disease_id: ORPHA:261229
disease_name: 14q11.2 microduplication syndrome
Dup(14)(q11.2)
Trisomy 14q11.2
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: ALDH1A2
disease_id: OMIM:620025
disease_name: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS
gene_symbol: STAG1
disease_id: ORPHA:502434
disease_name: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
gene_symbol: NEB
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: KLHL41
disease_id: OMIM:615731
disease_name: NEMALINE MYOPATHY 9
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: CFL2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: TSEN54
disease_id: ORPHA:166063
disease_name: Pontocerebellar hypoplasia type 4
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
PCH4
gene_symbol: MYL2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ITGA7
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: HACD1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM3
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: UHRF1
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: HELLS
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: CDCA7
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: LRRC32
disease_id: OMIM:619074
disease_name: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX2
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
gene_symbol: PSMC1
disease_id: OMIM:620071
disease_name: BIRK-AHARONI SYNDROME
gene_symbol: D2HGDH
disease_id: OMIM:600721
disease_name: D-2-HYDROXYGLUTARIC ACIDURIA 1
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: ERBB3
disease_id: OMIM:607598
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 2
gene_symbol: TNNT3
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: PEX3
disease_id: OMIM:614882
disease_name: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
gene_symbol: PEX3
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: COL25A1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: ERGIC1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: PEX14
disease_id: OMIM:614887
disease_name: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
gene_symbol: PEX14
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: CHRND
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: PEX26
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX19
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX11B
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX16
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX13
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX10
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
gene_symbol: RFT1
disease_id: OMIM:612015
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In
gene_symbol: PAH
disease_id: ORPHA:2209
disease_name: Maternal phenylketonuria
Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
gene_symbol: MYMX
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: MYMX
disease_id: OMIM:619941
disease_name: CAREY-FINEMAN-ZITER SYNDROME 2
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: RB1
disease_id: ORPHA:1587
disease_name: Monosomy 13q14 syndrome
Del(13)(q14)
Deletion 13q14
gene_symbol: CENPF
disease_id: OMIM:243605
disease_name: STROMME SYNDROME
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: OMIM:617755
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: SPOP
disease_id: OMIM:618829
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 2
gene_symbol: GNA11
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: ARL6IP6
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: PHIP
disease_id: OMIM:617991
disease_name: CHUNG-JANSEN SYNDROME
gene_symbol: CNOT2
disease_id: OMIM:618608
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES
gene_symbol: CLCF1
disease_id: ORPHA:1545
disease_name: Crisponi syndrome
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: DYM
disease_id: OMIM:607326
disease_name: SMITH-MCCORT DYSPLASIA 1
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LRP4
disease_id: ORPHA:3152
disease_name: Sclerosteosis
Cortical hyperostosis-syndactyly syndrome
gene_symbol: SOST
disease_id: ORPHA:3152
disease_name: Sclerosteosis
Cortical hyperostosis-syndactyly syndrome
gene_symbol: SOST
disease_id: ORPHA:1513
disease_name: Craniodiaphyseal dysplasia
gene_symbol: SOST
disease_id: OMIM:122860
disease_name: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: LRP5
disease_id: ORPHA:2790
disease_name: Endosteal hyperostosis, Worth type
Autosomal dominant osteosclerosis, Worth type
Worth syndrome
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: GJA1
disease_id: ORPHA:1522
disease_name: Craniometaphyseal dysplasia
gene_symbol: ANKH
disease_id: ORPHA:1522
disease_name: Craniometaphyseal dysplasia
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: TCIRG1
disease_id: ORPHA:1782
disease_name: Dysosteosclerosis
gene_symbol: SLC29A3
disease_id: ORPHA:1782
disease_name: Dysosteosclerosis
gene_symbol: TNFRSF11A
disease_id: ORPHA:1782
disease_name: Dysosteosclerosis
gene_symbol: FGFR1
disease_id: ORPHA:2396
disease_name: Encephalocraniocutaneous lipomatosis
Haberland syndrome
gene_symbol: KRAS
disease_id: ORPHA:2396
disease_name: Encephalocraniocutaneous lipomatosis
Haberland syndrome
gene_symbol: FLNA
disease_id: ORPHA:2484
disease_name: Melnick-Needles syndrome
Melnick-Needles osteodysplasty
gene_symbol: TBXAS1
disease_id: ORPHA:1802
disease_name: Ghosal hematodiaphyseal dysplasia
Diaphyseal dysplasia-anemia syndrome
Ghosal syndrome
gene_symbol: SP7
disease_id: ORPHA:1513
disease_name: Craniodiaphyseal dysplasia
gene_symbol: SMAD4
disease_id: ORPHA:2588
disease_name: Myhre syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: TBCE
disease_id: OMIM:244460
disease_name: KENNY-CAFFEY SYNDROME, TYPE 1
gene_symbol: TBCE
disease_id: ORPHA:93324
disease_name: Autosomal recessive Kenny-Caffey syndrome
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: KL
disease_id: OMIM:617994
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
gene_symbol: FAM111A
disease_id: ORPHA:93325
disease_name: Autosomal dominant Kenny-Caffey syndrome
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: CSF1R
disease_id: OMIM:618476
disease_name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
gene_symbol: TGFB1
disease_id: ORPHA:1328
disease_name: Camurati-Engelmann disease
Progressive diaphyseal dysplasia
gene_symbol: SFRP4
disease_id: ORPHA:3005
disease_name: Pyle disease
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: CTNNB1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
gene_symbol: CLCN7
disease_id: ORPHA:53
disease_name: Albers-Schönberg osteopetrosis
Osteopetrosis autosomal dominant type 2
gene_symbol: CLCN7
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: PLEKHM1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: SLC39A14
disease_id: OMIM:144755
disease_name: HYPEROSTOSIS CRANIALIS INTERNA
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
gene_symbol: IRF6
disease_id: ORPHA:1300
disease_name: Autosomal dominant popliteal pterygium syndrome
Facio-genito-popliteal syndrome
Popliteal web syndrome
gene_symbol: IRF6
disease_id: OMIM:119500
disease_name: POPLITEAL PTERYGIUM SYNDROME
gene_symbol: LAS1L
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: HDAC8
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: CTDP1
disease_id: OMIM:604168
disease_name: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: NSMCE2
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
gene_symbol: XRCC4
disease_id: ORPHA:436182
disease_name: Microcephalic primordial dwarfism-insulin resistance syndrome
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: CNOT1
disease_id: ORPHA:556955
disease_name: Pancreatic agenesis-holoprosencephaly syndrome
gene_symbol: CNOT1
disease_id: OMIM:618500
disease_name: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: OFD1
disease_id: ORPHA:2750
disease_name: Orofaciodigital syndrome type 1
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
gene_symbol: PEPD
disease_id: ORPHA:742
disease_name: Prolidase deficiency
Hyperimidodipeptiduria
gene_symbol: TWIST2
disease_id: ORPHA:920
disease_name: Ablepharon macrostomia syndrome
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: SEMA3E
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: STAT4
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RB
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: ANKRD55
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: CD247
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RA
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN2
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
gene_symbol: TGIF1
disease_id: OMIM:142946
disease_name: HOLOPROSENCEPHALY 4
gene_symbol: RECQL
disease_id: OMIM:620370
disease_name: RECON PROGEROID SYNDROME
gene_symbol: DNAJB13
disease_id: OMIM:617091
disease_name: CILIARY DYSKINESIA, PRIMARY, 34
gene_symbol: DNAAF6
disease_id: OMIM:300991
disease_name: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: SH3KBP1
disease_id: OMIM:300310
disease_name: IMMUNODEFICIENCY 61
gene_symbol: NFKB2
disease_id: ORPHA:293978
disease_name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
DAVID syndrome
gene_symbol: NFKB2
disease_id: OMIM:615577
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 10
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: CD19
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: NEK10
disease_id: OMIM:618781
disease_name: CILIARY DYSKINESIA, PRIMARY, 44
gene_symbol: TNFRSF13C
disease_id: OMIM:613494
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 4
gene_symbol: TNFRSF13C
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: STK36
disease_id: OMIM:619436
disease_name: CILIARY DYSKINESIA, PRIMARY, 46
gene_symbol: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: RSPH4A
disease_id: OMIM:612649
disease_name: CILIARY DYSKINESIA, PRIMARY, 11
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: UNC119
disease_id: OMIM:615518
disease_name: IMMUNODEFICIENCY 13
gene_symbol: USB1
disease_id: OMIM:604173
disease_name: POIKILODERMA WITH NEUTROPENIA
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: RSPH1
disease_id: OMIM:615481
disease_name: CILIARY DYSKINESIA, PRIMARY, 24
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: STXBP2
disease_id: OMIM:613101
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: BRWD1
disease_id: OMIM:620438
disease_name: CILIARY DYSKINESIA, PRIMARY, 51
gene_symbol: NFKB1
disease_id: OMIM:616576
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 12
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: IL21R
disease_id: OMIM:615207
disease_name: IMMUNODEFICIENCY 56
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: SEC61A1
disease_id: OMIM:620670
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 15
gene_symbol: DNAH5
disease_id: OMIM:608644
disease_name: CILIARY DYSKINESIA, PRIMARY, 3
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: NME5
disease_id: OMIM:620032
disease_name: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: ICOS
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: ZNF341
disease_id: OMIM:618282
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: TNFRSF13B
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: CR2
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: COL5A2
disease_id: OMIM:130010
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
gene_symbol: ODAD2
disease_id: OMIM:615451
disease_name: CILIARY DYSKINESIA, PRIMARY, 23
gene_symbol: IVNS1ABP
disease_id: OMIM:618969
disease_name: IMMUNODEFICIENCY 70
gene_symbol: MDM4
disease_id: OMIM:618849
disease_name: BONE MARROW FAILURE SYNDROME 6
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: IL17RA
disease_id: OMIM:613953
disease_name: IMMUNODEFICIENCY 51
gene_symbol: GAS2L2
disease_id: OMIM:618449
disease_name: CILIARY DYSKINESIA, PRIMARY, 41
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: DOCK8
disease_id: ORPHA:217390
disease_name: Combined immunodeficiency due to DOCK8 deficiency
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
gene_symbol: MCIDAS
disease_id: OMIM:618695
disease_name: CILIARY DYSKINESIA, PRIMARY, 42
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: C4B
disease_id: OMIM:614379
disease_name: COMPLEMENT COMPONENT 4B DEFICIENCY
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: DRC2
disease_id: OMIM:615504
disease_name: CILIARY DYSKINESIA, PRIMARY, 27
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: DNAAF2
disease_id: OMIM:612518
disease_name: CILIARY DYSKINESIA, PRIMARY, 10
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: DNAI1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: CFAP300
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: FCGR2A
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: ODAD4
disease_id: OMIM:617092
disease_name: CILIARY DYSKINESIA, PRIMARY, 35
gene_symbol: ODAD4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DRC1
disease_id: OMIM:615294
disease_name: CILIARY DYSKINESIA, PRIMARY, 21
gene_symbol: DRC1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: DNAH9
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
gene_symbol: RSPH3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RPGR
disease_id: OMIM:300455
disease_name: RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS
gene_symbol: RPGR
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: TAP1
disease_id: OMIM:604571
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE I
gene_symbol: CLXN
disease_id: OMIM:620642
disease_name: CILIARY DYSKINESIA, PRIMARY, 53
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: LIG4
disease_id: OMIM:606593
disease_name: LIG4 SYNDROME
gene_symbol: DNAH1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD3
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: TTC12
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: FOXJ1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: FOXJ1
disease_id: OMIM:618699
disease_name: CILIARY DYSKINESIA, PRIMARY, 43
gene_symbol: RSPH9
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: RSPH9
disease_id: OMIM:612650
disease_name: CILIARY DYSKINESIA, PRIMARY, 12
gene_symbol: CCDC40
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: DNAL1
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAL1
disease_id: OMIM:614017
disease_name: CILIARY DYSKINESIA, PRIMARY, 16
gene_symbol: CFAP221
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DRC4
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: SPEF2
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCNO
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: LRRC56
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF19
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: DNAAF19
disease_id: OMIM:614679
disease_name: CILIARY DYSKINESIA, PRIMARY, 17
gene_symbol: CCDC39
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: DNAH11
disease_id: ORPHA:244
disease_name: Primary ciliary dyskinesia
PCD
gene_symbol: CFAP52
disease_id: OMIM:619607
disease_name: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: CFAP45
disease_id: OMIM:619608
disease_name: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: TAP2
disease_id: OMIM:620813
disease_name: MHC CLASS I DEFICIENCY 2
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: MTHFR
disease_id: ORPHA:563612
disease_name: Isolated exencephaly
gene_symbol: VANGL2
disease_id: ORPHA:563612
disease_name: Isolated exencephaly
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CCNK
disease_id: OMIM:618147
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
gene_symbol: SNIP1
disease_id: OMIM:614501
disease_name: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: TBC1D2B
disease_id: OMIM:619323
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
gene_symbol: CNTN1
disease_id: OMIM:612540
disease_name: MYOPATHY, CONGENITAL, COMPTON-NORTH
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: SCN9A
disease_id: OMIM:167400
disease_name: PAROXYSMAL EXTREME PAIN DISORDER
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: ZNF668
disease_id: OMIM:620194
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
gene_symbol: SOX5
disease_id: ORPHA:313892
disease_name: Developmental and speech delay due to SOX5 deficiency
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: AP2M1
disease_id: OMIM:618587
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES
gene_symbol: ZBTB11
disease_id: OMIM:618383
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
gene_symbol: SOBP
disease_id: OMIM:613671
disease_name: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I