TaoMedAI/RareMedData huggingface dataset:
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated genes and diseases:
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: NDUFS2
disease_id: OMIM:620569
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2
gene_symbol: MFSD8
disease_id: OMIM:616170
disease_name: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: ACO2
disease_id: OMIM:616289
disease_name: OPTIC ATROPHY 9
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: FGF14
disease_id: ORPHA:98764
disease_name: Spinocerebellar ataxia type 27A
SCA27A
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: OPN1MW
disease_id: OMIM:303800
disease_name: COLORBLINDNESS, PARTIAL, DEUTAN SERIES
gene_symbol: CACNA1F
disease_id: OMIM:300600
disease_name: ALAND ISLAND EYE DISEASE
gene_symbol: OPN1LW
disease_id: OMIM:303900
disease_name: COLORBLINDNESS, PARTIAL, PROTAN SERIES
Phenotype: Dysmetric saccades (HP:0000641)
Associated genes and diseases:
gene_symbol: TPP1
disease_id: ORPHA:284324
disease_name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 7
SCAR7
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: TGM6
disease_id: ORPHA:276193
disease_name: Spinocerebellar ataxia type 35
SCA35
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: ATXN8OS
disease_id: OMIM:608768
disease_name: SPINOCEREBELLAR ATAXIA 8
gene_symbol: ATXN8
disease_id: OMIM:608768
disease_name: SPINOCEREBELLAR ATAXIA 8
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: EEF2
disease_id: OMIM:609306
disease_name: SPINOCEREBELLAR ATAXIA 26
gene_symbol: EEF2
disease_id: ORPHA:101112
disease_name: Spinocerebellar ataxia type 26
SCA26
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: UBAP1
disease_id: OMIM:618418
disease_name: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: AFG3L2
disease_id: OMIM:610246
disease_name: SPINOCEREBELLAR ATAXIA 28
gene_symbol: SCYL1
disease_id: ORPHA:466794
disease_name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal recessive spinocerebellar ataxia type 21
SCAR21
gene_symbol: MFN2
disease_id: OMIM:601152
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: SPTBN2
disease_id: ORPHA:352403
disease_name: Spectrin-associated autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 14
Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
SCAR14
SPARCA
SPARCA1
Spectrin-associated autosomal recessive cerebellar ataxia type 1
Phenotype: Absent palmar crease (HP:0010489)
Associated genes and diseases:
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: NUP88
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: TUBA1A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MYOD1
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MAGEL2
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MUSK
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: GLDN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: SLC18A3
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: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: SLC39A13
disease_id: ORPHA:157965
disease_name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SCD-EDS
SLC39A13-related spEDS
SLC39A13-related spondylodysplastic EDS
Spondylocheirodysplastic Ehlers-Danlos syndrome
spEDS-SLC39A13
gene_symbol: PIEZO2
disease_id: ORPHA:1154
disease_name: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
gene_symbol: MYH3
disease_id: ORPHA:2053
disease_name: Freeman-Sheldon syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
gene_symbol: NALCN
disease_id: ORPHA:2053
disease_name: Freeman-Sheldon syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
Phenotype: Small hypothenar eminence (HP:0010487)
Associated genes and diseases:
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: FGD4
disease_id: OMIM:609311
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
Phenotype: Abnormality of the hypothenar eminence (HP:0010486)
Associated genes and diseases:
gene_symbol: GMPPA
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: TRAPPC11
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: AAAS
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: FGD4
disease_id: OMIM:609311
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
Phenotype: Urethral valve (HP:0010481)
Associated genes and diseases:
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: HPSE2
disease_id: OMIM:236730
disease_name: UROFACIAL SYNDROME 1
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: BNC2
disease_id: OMIM:618612
disease_name: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL
gene_symbol: BNC2
disease_id: ORPHA:93110
disease_name: Posterior urethral valve
PUV
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: CHRM3
disease_id: OMIM:100100
disease_name: PRUNE BELLY SYNDROME
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
Phenotype: Urethral fistula (HP:0010480)
Associated genes and diseases:
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
Phenotype: Hyperextensibility at elbow (HP:0010485)
Associated genes and diseases:
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: KMT2A
disease_id: ORPHA:319182
disease_name: Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
gene_symbol: IFITM5
disease_id: OMIM:610967
disease_name: OSTEOGENESIS IMPERFECTA, TYPE V
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: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
gene_symbol: HYAL1
disease_id: OMIM:601492
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IX
Phenotype: Hypertrophy of the upper limb (HP:0010484)
Associated genes and diseases:
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
Phenotype: Abnormal humeral diaphysis morphology (HP:0003926)
Associated genes and diseases:
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
Phenotype: Abnormal amplitude of pattern reversal visual evoked potentials (HP:0000650)
Associated genes and diseases:
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated genes and diseases:
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: SF3B4
disease_id: ORPHA:245
disease_name: Nager syndrome
Mandibulofacial dysostosis with preaxial limb anomalies
NAFD
Nager acrofacial dysostosis
Preaxial acrodysostosis
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: POLR1C
disease_id: OMIM:248390
disease_name: TREACHER COLLINS SYNDROME 3
gene_symbol: EDNRA
disease_id: OMIM:616367
disease_name: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
gene_symbol: POLR1B
disease_id: OMIM:618939
disease_name: TREACHER COLLINS SYNDROME 4
gene_symbol: POLR1D
disease_id: OMIM:613717
disease_name: TREACHER COLLINS SYNDROME 2
gene_symbol: TXNL4A
disease_id: OMIM:608572
disease_name: BURN-MCKEOWN SYNDROME
Phenotype: Eyelid apraxia (HP:0000658)
Associated genes and diseases:
gene_symbol: PLA2G6
disease_id: ORPHA:199351
disease_name: Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
gene_symbol: SYNJ1
disease_id: OMIM:615530
disease_name: PARKINSON DISEASE 20, EARLY-ONSET
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated genes and diseases:
gene_symbol: ACOX1
disease_id: OMIM:264470
disease_name: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
gene_symbol: ALG3
disease_id: OMIM:601110
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
gene_symbol: BEST1
disease_id: OMIM:611809
disease_name: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
gene_symbol: LRAT
disease_id: OMIM:613341
disease_name: LEBER CONGENITAL AMAUROSIS 14
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: IDH3B
disease_id: OMIM:612572
disease_name: RETINITIS PIGMENTOSA 46
gene_symbol: CYP4V2
disease_id: ORPHA:41751
disease_name: Bietti crystalline dystrophy
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
gene_symbol: USP45
disease_id: OMIM:618513
disease_name: LEBER CONGENITAL AMAUROSIS 19
gene_symbol: POMGNT1
disease_id: OMIM:253280
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
gene_symbol: RHO
disease_id: OMIM:610445
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
gene_symbol: SAG
disease_id: OMIM:613758
disease_name: RETINITIS PIGMENTOSA 47
gene_symbol: RGR
disease_id: OMIM:613769
disease_name: RETINITIS PIGMENTOSA 44
gene_symbol: LARGE1
disease_id: OMIM:608840
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
Phenotype: Sirenomelia (HP:0010497)
Associated genes and diseases:
gene_symbol: DACT1
disease_id: ORPHA:63260
disease_name: Craniorachischisis
gene_symbol: RET
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: ITGA8
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: FGF20
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GFRA1
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: WNT9B
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GREB1L
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Osseous finger syndactyly (HP:0010492)
Associated genes and diseases:
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: HOXD13
disease_id: ORPHA:93406
disease_name: Syndactyly type 5
Postaxial syndactyly with metacarpal synostosis
SD5
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: BHLHA9
disease_id: OMIM:609432
disease_name: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
Phenotype: Digital constriction ring (HP:0010491)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: ORPHA:1010
disease_name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
gene_symbol: LORICRIN
disease_id: ORPHA:79395
disease_name: Keratoderma hereditarium mutilans with ichthyosis
Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
Phenotype: Hypertrophy of the lower limb (HP:0010496)
Associated genes and diseases:
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
Phenotype: Acromelia of the lower limbs (HP:0010494)
Associated genes and diseases:
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
Phenotype: Long metacarpals (HP:0010493)
Associated genes and diseases:
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
Phenotype: Persistent fever (HP:0033399)
Associated genes and diseases:
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: C1QB
disease_id: OMIM:620321
disease_name: C1q DEFICIENCY 2
Phenotype: Humeroradial synostosis (HP:0003041)
Associated genes and diseases:
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
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: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: NOG
disease_id: OMIM:186570
disease_name: TARSAL-CARPAL COALITION SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER 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:101200
disease_name: APERT SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: WNT7A
disease_id: ORPHA:2879
disease_name: Phocomelia, Schinzel type
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: CYP26B1
disease_id: OMIM:614416
disease_name: RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
gene_symbol: FGF9
disease_id: OMIM:612961
disease_name: MULTIPLE SYNOSTOSES SYNDROME 3
gene_symbol: GDF5
disease_id: OMIM:610017
disease_name: MULTIPLE SYNOSTOSES SYNDROME 2
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME