Phenotype: Abnormality of the periorbital region (HP:0000606)
Associated genes and diseases:
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: GRIA3
disease_id: ORPHA:364028
disease_name: X-linked intellectual disability due to GRIA3 mutations
gene_symbol: GRIA3
disease_id: OMIM:300699
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: PAK3
disease_id: OMIM:300558
disease_name: MENTAL RETARDATION, X-LINKED 30
gene_symbol: PSMC3
disease_id: OMIM:619354
disease_name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: FLNA
disease_id: OMIM:314400
disease_name: CARDIAC VALVULAR DYSPLASIA, X-LINKED
gene_symbol: FLNA
disease_id: ORPHA:2484
disease_name: Melnick-Needles syndrome
Melnick-Needles osteodysplasty
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: FLNA
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: FLNA
disease_id: OMIM:309350
disease_name: MELNICK-NEEDLES SYNDROME
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: FLNA
disease_id: ORPHA:90650
disease_name: Otopalatodigital syndrome type 1
OPD I syndrome
OPD syndrome 1
Taybi syndrome
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
gene_symbol: ABCC9
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: COL11A2
disease_id: OMIM:215150
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: OPHN1
disease_id: OMIM:300486
disease_name: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: TAF1
disease_id: ORPHA:480907
disease_name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant 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: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: KCNJ8
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: SEC23A
disease_id: ORPHA:50814
disease_name: Craniolenticulosutural dysplasia
Boyadjiev-Jabs syndrome
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR1
disease_id: ORPHA:3366
disease_name: Non-syndromic metopic craniosynostosis
Isolated metopic craniosynostosis
Isolated trigonocephaly
Non-syndromic metopic suture synostosis
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: PITX2
disease_id: OMIM:180500
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 1
gene_symbol: FBXO31
disease_id: OMIM:615979
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
gene_symbol: ERCC4
disease_id: OMIM:610965
disease_name: XFE PROGEROID SYNDROME
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: FREM1
disease_id: ORPHA:3366
disease_name: Non-syndromic metopic craniosynostosis
Isolated metopic craniosynostosis
Isolated trigonocephaly
Non-syndromic metopic suture synostosis
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: PHF8
disease_id: OMIM:300263
disease_name: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: AP1G1
disease_id: OMIM:619548
disease_name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII
gene_symbol: EDARADD
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDARADD
disease_id: OMIM:614941
disease_name: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDAR
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
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: PLPBP
disease_id: OMIM:617290
disease_name: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
gene_symbol: RBMX
disease_id: OMIM:300238
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: SRCAP
disease_id: OMIM:619595
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
gene_symbol: H4C11
disease_id: OMIM:619759
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: TWIST2
disease_id: OMIM:227260
disease_name: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
gene_symbol: RPS23
disease_id: OMIM:617412
disease_name: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: WDR4
disease_id: OMIM:618347
disease_name: GALLOWAY-MOWAT SYNDROME 6
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: DOCK7
disease_id: OMIM:615859
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: NRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: HRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: PPP2CA
disease_id: OMIM:618354
disease_name: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: KMT2E
disease_id: OMIM:618512
disease_name: O'DONNELL-LURIA-RODAN SYNDROME
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: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: VPS33A
disease_id: ORPHA:505248
disease_name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-like plus disease
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: GNE
disease_id: ORPHA:3166
disease_name: Sialuria
Sialuria, French type
gene_symbol: FTSJ1
disease_id: OMIM:309549
disease_name: MENTAL RETARDATION, X-LINKED 9
gene_symbol: NSD2
disease_id: OMIM:619695
disease_name: RAUCH-STEINDL SYNDROME
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: MED13
disease_id: OMIM:618009
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: CHD1
disease_id: OMIM:617682
disease_name: PILAROWSKI-BJORNSSON SYNDROME
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: ARX
disease_id: OMIM:300419
disease_name: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
gene_symbol: ANKRD17
disease_id: OMIM:619504
disease_name: CHOPRA-AMIEL-GORDON SYNDROME
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: PTH1R
disease_id: OMIM:156400
disease_name: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: SLC25A24
disease_id: ORPHA:2095
disease_name: Gorlin-Chaudhry-Moss syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
GCM syndrome
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: SPOP
disease_id: OMIM:618828
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 1
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: PIK3CD
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: NEU1
disease_id: ORPHA:93399
disease_name: Juvenile sialidosis type 2
gene_symbol: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2
gene_symbol: GJA5
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: NKX2-5
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: NKX2-6
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: ZFPM2
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GATA4
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: KDR
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GATA6
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GDF1
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: JAG1
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: TBX1
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GATA5
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: FLT4
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: CITED2
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: KIF11
disease_id: ORPHA:2526
disease_name: Microcephaly-lymphedema-chorioretinopathy syndrome
MLCRD
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: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
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: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: DRG1
disease_id: OMIM:620641
disease_name: TAN-ALMURSHEDI SYNDROME
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: TRAPPC9
disease_id: ORPHA:352530
disease_name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: MYOD1
disease_id: OMIM:618975
disease_name: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
gene_symbol: SOX11
disease_id: OMIM:615866
disease_name: COFFIN-SIRIS SYNDROME 9
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: PEX2
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
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: 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: PEX6
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX5
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX1
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX12
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: PEX14
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: GHR
disease_id: ORPHA:633
disease_name: Laron syndrome
Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance
gene_symbol: TWIST1
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: FGFR3
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: TCF12
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: ZIC1
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
gene_symbol: YARS1
disease_id: OMIM:619418
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
gene_symbol: RIN2
disease_id: ORPHA:217335
disease_name: RIN2 syndrome
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
gene_symbol: CYP26C1
disease_id: OMIM:614974
disease_name: FOCAL FACIAL DERMAL DYSPLASIA 4
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: MED12L
disease_id: OMIM:618872
disease_name: NIZON-ISIDOR SYNDROME
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: MYCN
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: ALK
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LIN28B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LMO1
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: HACE1
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: PHOX2B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: PSMB4
disease_id: OMIM:617591
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
gene_symbol: PIEZO1
disease_id: OMIM:616843
disease_name: LYMPHATIC MALFORMATION 6
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: TNFRSF1A
disease_id: ORPHA:32960
disease_name: Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren 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: NCF1
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: 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: EPHB4
disease_id: ORPHA:90186
disease_name: Meige disease
Hereditary lymphedema type II
Meige lymphedema
gene_symbol: CCBE1
disease_id: OMIM:235510
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
gene_symbol: SERPING1
disease_id: OMIM:106100
disease_name: ANGIOEDEMA, HEREDITARY, TYPE I
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: IGSF3
disease_id: OMIM:149700
disease_name: LACRIMAL DUCT DEFECT
gene_symbol: NPHS1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: CD2AP
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP93
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: MYO1E
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: INF2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: GAPVD1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: WT1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP107
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ANKFY1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: KANK2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ANLN
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: AVIL
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PTPRO
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: CRB2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP205
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: EMP2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP37
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PLCE1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP85
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: COL4A3
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ARHGDIA
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: COQ8B
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP160
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: MAGI2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ACTN4
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: TRPC6
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: APOL1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: TBC1D8B
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: LAMA5
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NPHS2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ARHGAP24
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: DAAM2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PAX2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP133
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: SOX18
disease_id: OMIM:607823
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
gene_symbol: SOX18
disease_id: ORPHA:69735
disease_name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
gene_symbol: FOXG1
disease_id: ORPHA:261144
disease_name: FOXG1 syndrome due to 14q12 microdeletion
Del(14)(q12)
Monosomy 14q12
gene_symbol: TGFBI
disease_id: OMIM:608470
disease_name: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
gene_symbol: KCTD1
disease_id: ORPHA:2036
disease_name: Scalp-ear-nipple syndrome
Finlay-Marks syndrome
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: ZNHIT3
disease_id: ORPHA:2836
disease_name: PEHO syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: XPNPEP2
disease_id: ORPHA:100057
disease_name: Renin-angiotensin-aldosterone system-blocker-induced angioedema
ACE inhibitor-related acquired angioedema
ACEI-related acquired angioedema
Acquired angioedema with normal C1 inhibitor
Acquired angioedema with normal C1INH
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
gene_symbol: KPTN
disease_id: ORPHA:397612
disease_name: Macrocephaly-developmental delay syndrome
gene_symbol: PSPH
disease_id: ORPHA:79350
disease_name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
PSPH deficiency, infantile/juvenile form
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: SNX14
disease_id: ORPHA:397709
disease_name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
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: FRMD4A
disease_id: ORPHA:466688
disease_name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: SOX4
disease_id: OMIM:618506
disease_name: COFFIN-SIRIS SYNDROME 10
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
gene_symbol: MDH1
disease_id: OMIM:618959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
gene_symbol: AARS1
disease_id: OMIM:619691
disease_name: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE