TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal circulating leptin concentration (HP:0004361)
Associated genes and diseases:
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
gene_symbol: CIDEC
disease_id: ORPHA:435651
disease_name: CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
FPLD5
gene_symbol: CIDEC
disease_id: OMIM:615238
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
gene_symbol: LEP
disease_id: OMIM:614962
disease_name: LEPTIN DEFICIENCY OR DYSFUNCTION
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: LIPE
disease_id: ORPHA:435660
disease_name: LIPE-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: AKT2
disease_id: ORPHA:79085
disease_name: AKT2-related familial partial lipodystrophy
AKT2-related FPLD
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: ADCY3
disease_id: OMIM:617885
disease_name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
Phenotype: Abnormal circulating tryptophan concentration (HP:0004365)
Associated genes and diseases:
gene_symbol: KYNU
disease_id: ORPHA:79155
disease_name: Hydroxykynureninuria
Kynureninase deficiency
Xanthurenic aciduria
gene_symbol: TDO2
disease_id: ORPHA:2224
disease_name: Hypertryptophanemia
gene_symbol: TDO2
disease_id: OMIM:600627
disease_name: HYPERTRYPTOPHANEMIA
Phenotype: Abnormal circulating carbohydrate concentration (HP:0011013)
Associated genes and diseases:
gene_symbol: DCXR
disease_id: ORPHA:2843
disease_name: Pentosuria
Essential pentosuria
Xylitol dehydrogenase deficiency
gene_symbol: GALK1
disease_id: OMIM:230200
disease_name: GALACTOSEMIA II
gene_symbol: GALK1
disease_id: ORPHA:79237
disease_name: Galactokinase deficiency
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
gene_symbol: GALM
disease_id: ORPHA:570422
disease_name: Galactose mutarotase deficiency
GALM deficiency
Galactosemia type 4
gene_symbol: GALM
disease_id: OMIM:618881
disease_name: GALACTOSEMIA IV
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: GALE
disease_id: OMIM:230350
disease_name: GALACTOSEMIA III
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: TKT
disease_id: ORPHA:488618
disease_name: Transketolase deficiency
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
gene_symbol: SORD
disease_id: OMIM:618912
disease_name: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY
gene_symbol: GK
disease_id: OMIM:307030
disease_name: GLYCEROL KINASE DEFICIENCY
gene_symbol: PTPN22
disease_id: OMIM:222100
disease_name: TYPE 1 DIABETES MELLITUS
gene_symbol: IL6
disease_id: OMIM:222100
disease_name: TYPE 1 DIABETES MELLITUS
gene_symbol: HNF1A
disease_id: OMIM:222100
disease_name: TYPE 1 DIABETES MELLITUS
gene_symbol: PSAP
disease_id: ORPHA:309252
disease_name: Atypical Gaucher disease due to saposin C deficiency
Phenotype: Increased circulating purine concentration (HP:0004368)
Associated genes and diseases:
gene_symbol: XDH
disease_id: OMIM:278300
disease_name: XANTHINURIA, TYPE I
gene_symbol: MOCOS
disease_id: OMIM:603592
disease_name: XANTHINURIA, TYPE II
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated genes and diseases:
gene_symbol: FGF10
disease_id: OMIM:620193
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME 3
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: OMIM:180920
disease_name: APLASIA OF LACRIMAL AND SALIVARY GLANDS
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: FGFR3
disease_id: OMIM:620192
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME 2
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: UBR1
disease_id: ORPHA:2315
disease_name: Johanson-Blizzard syndrome
JBS
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
Phenotype: Optic nerve dysplasia (HP:0001093)
Associated genes and diseases:
gene_symbol: PAX2
disease_id: ORPHA:1475
disease_name: Renal coloboma syndrome
Coloboma of optic nerve with renal disease
Papillo-renal syndrome
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: CPAMD8
disease_id: OMIM:617319
disease_name: ANTERIOR SEGMENT DYSGENESIS 8
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: B4GAT1
disease_id: OMIM:615287
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
Phenotype: Iridocyclitis (HP:0001094)
Associated genes and diseases:
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
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: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: STUB1
disease_id: ORPHA:412057
disease_name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
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: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
Phenotype: Fundus atrophy (HP:0001099)
Associated genes and diseases:
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: RPE65
disease_id: OMIM:204100
disease_name: LEBER CONGENITAL AMAUROSIS 2
gene_symbol: PCARE
disease_id: OMIM:613428
disease_name: RETINITIS PIGMENTOSA 54
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated genes and diseases:
gene_symbol: MYO6
disease_id: OMIM:607821
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 37
gene_symbol: GPR179
disease_id: OMIM:614565
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
gene_symbol: LRIT3
disease_id: OMIM:615058
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
gene_symbol: GRK1
disease_id: OMIM:613411
disease_name: OGUCHI DISEASE 2
gene_symbol: GRK1
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: GNAT1
disease_id: OMIM:616389
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
gene_symbol: GNAT1
disease_id: OMIM:610444
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3
gene_symbol: SLC24A1
disease_id: OMIM:613830
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
gene_symbol: TRPM1
disease_id: OMIM:613216
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
gene_symbol: RHO
disease_id: OMIM:610445
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
gene_symbol: NYX
disease_id: OMIM:310500
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
gene_symbol: FGFR2
disease_id: ORPHA:313855
disease_name: FGFR2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
gene_symbol: CABP4
disease_id: OMIM:610427
disease_name: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE
gene_symbol: CACNA1F
disease_id: OMIM:300071
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
gene_symbol: PDE6B
disease_id: OMIM:163500
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
gene_symbol: SAG
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: SAG
disease_id: OMIM:258100
disease_name: OGUCHI DISEASE 1
gene_symbol: GRM6
disease_id: OMIM:257270
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
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: CACNA2D4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNB3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: RDH5
disease_id: OMIM:136880
disease_name: FUNDUS ALBIPUNCTATUS
gene_symbol: RLBP1
disease_id: OMIM:136880
disease_name: FUNDUS ALBIPUNCTATUS
gene_symbol: PRPH2
disease_id: OMIM:136880
disease_name: FUNDUS ALBIPUNCTATUS
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: XYLT2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: PLOD3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: VCAN
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: GZF1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: KCNJ13
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL2A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LRP2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: BMP4
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: SLITRK6
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: P3H2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LOXL3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
Phenotype: Absent lower eyelashes (HP:0007646)
Associated genes and diseases:
gene_symbol: RECQL
disease_id: OMIM:620370
disease_name: RECON PROGEROID SYNDROME
gene_symbol: TWIST2
disease_id: OMIM:227260
disease_name: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Phenotype: Punctate cataract (HP:0007648)
Associated genes and diseases:
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: LIM2
disease_id: OMIM:615277
disease_name: CATARACT 19, MULTIPLE TYPES
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: MAF
disease_id: OMIM:610202
disease_name: CATARACT 21, MULTIPLE TYPES
gene_symbol: CRYBB2
disease_id: OMIM:601547
disease_name: CATARACT 3, MULTIPLE TYPES
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: HSF4
disease_id: OMIM:116800
disease_name: CATARACT 5, MULTIPLE TYPES
gene_symbol: FTL
disease_id: OMIM:600886
disease_name: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
gene_symbol: CRYBB1
disease_id: OMIM:611544
disease_name: CATARACT 17, MULTIPLE TYPES
gene_symbol: GJA8
disease_id: OMIM:116200
disease_name: CATARACT 1, MULTIPLE TYPES
gene_symbol: VIM
disease_id: OMIM:116300
disease_name: CATARACT 30, MULTIPLE TYPES
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: CRYGC
disease_id: OMIM:604307
disease_name: CATARACT 2, MULTIPLE TYPES
Phenotype: Congenital hypertrophy of retinal pigment epithelium (HP:0007649)
Associated genes and diseases:
gene_symbol: MUTYH
disease_id: ORPHA:247798
disease_name: MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
Phenotype: Abnormality of glycosaminoglycan metabolism (HP:0004371)
Associated genes and diseases:
gene_symbol: HGSNAT
disease_id: OMIM:252930
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: PIK3C2A
disease_id: ORPHA:557003
disease_name: Oculoskeletodental syndrome
Oculo-skeleto-dental syndrome
Phenotype: Progressive ophthalmoplegia (HP:0007650)
Associated genes and diseases:
gene_symbol: ROBO3
disease_id: OMIM:607313
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated genes and diseases:
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: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: CTNND1
disease_id: OMIM:617681
disease_name: BLEPHAROCHEILODONTIC SYNDROME 2
gene_symbol: CTNND1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: DLX4
disease_id: OMIM:616788
disease_name: OROFACIAL CLEFT 15
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: CDH1
disease_id: OMIM:119580
disease_name: BLEPHAROCHEILODONTIC SYNDROME 1
gene_symbol: CDH1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
Phenotype: Hypermyelinated retinal nerve fibers (HP:0007922)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: SACS
disease_id: ORPHA:98
disease_name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS
Autosomal recessive spastic ataxia type 6
SPAX6
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated genes and diseases:
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: OMIM:300867
disease_name: KABUKI SYNDROME 2
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: GRIA3
disease_id: ORPHA:364028
disease_name: X-linked intellectual disability due to GRIA3 mutations
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
Phenotype: Lacrimal gland aplasia (HP:0007656)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: OMIM:180920
disease_name: APLASIA OF LACRIMAL AND SALIVARY GLANDS
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
Phenotype: Diffuse nuclear cataract (HP:0007657)
Associated genes and diseases:
gene_symbol: VIM
disease_id: OMIM:116300
disease_name: CATARACT 30, MULTIPLE TYPES
Phenotype: Large hyperpigmented retinal spots (HP:0007658)
Associated genes and diseases:
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY