TaoMedAI/RareMedData huggingface dataset:
Phenotype: Epicanthus inversus (HP:0000537)
Associated genes and diseases:
gene_symbol: FOXL2
disease_id: OMIM:110100
disease_name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: KAT6B
disease_id: OMIM:603736
disease_name: OHDO SYNDROME, SBBYS VARIANT
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: COLEC10
disease_id: OMIM:248340
disease_name: 3MC SYNDROME 3
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: PEX6
disease_id: OMIM:614862
disease_name: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
Phenotype: Corneal crystals (HP:0000531)
Associated genes and diseases:
gene_symbol: CTNS
disease_id: ORPHA:411641
disease_name: Ocular cystinosis
Adult-onset cystinosis
Non-nephropathic cystinosis
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: CTNS
disease_id: OMIM:219900
disease_name: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: CTNS
disease_id: ORPHA:411629
disease_name: Infantile nephropathic cystinosis
gene_symbol: CTNS
disease_id: OMIM:219750
disease_name: CYSTINOSIS, ADULT NONNEPHROPATHIC
gene_symbol: CHST6
disease_id: ORPHA:98969
disease_name: Macular corneal dystrophy
Corneal dystrophy Groenouw type II
Fehr corneal dystrophy
MCD
gene_symbol: TGFBI
disease_id: ORPHA:98962
disease_name: Granular corneal dystrophy type I
Classic GCD
Classic granular corneal dystrophy
Corneal dystrophy Groenouw type I
GCD1
GCDI
Granular corneal dystrophy type 1
gene_symbol: TGFBI
disease_id: ORPHA:98963
disease_name: Granular corneal dystrophy type II
Avellino corneal dystrophy
GCD2
GCDII
Granular corneal dystrophy type 2
Granular-lattice corneal dystrophy
gene_symbol: CYP4V2
disease_id: OMIM:210370
disease_name: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
Phenotype: Abnormality of the distal phalanx of the 4th toe (HP:0010380)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
Phenotype: Abnormality of the middle phalanx of the 4th toe (HP:0010381)
Associated genes and diseases:
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
Phenotype: Aplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383)
Associated genes and diseases:
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Symphalangism affecting the phalanges of the 5th toe (HP:0010389)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Impaired ocular adduction (HP:0000542)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: OMIM:617041
disease_name: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
Phenotype: Superior cerebellar dysplasia (HP:0020185)
Associated genes and diseases:
gene_symbol: ARMC9
disease_id: OMIM:617622
disease_name: JOUBERT SYNDROME 30
Phenotype: Tritanomaly (HP:0000552)
Associated genes and diseases:
gene_symbol: POC1B
disease_id: OMIM:615973
disease_name: CONE-ROD DYSTROPHY 20
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: OPN1SW
disease_id: OMIM:190900
disease_name: TRITANOPIA
gene_symbol: OPN1SW
disease_id: ORPHA:88629
disease_name: Tritanopia
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
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: GUCY2D
disease_id: OMIM:618555
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
Phenotype: Triangular shaped phalanges of the 5th toe (HP:0010390)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Abnormality of the distal phalanx of the 5th toe (HP:0010392)
Associated genes and diseases:
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
Phenotype: Abnormality of the middle phalanx of the 5th toe (HP:0010393)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Rieger anomaly (HP:0000558)
Associated genes and diseases:
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
gene_symbol: PAX6
disease_id: OMIM:604229
disease_name: ANTERIOR SEGMENT DYSGENESIS 5
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: FOXC1
disease_id: OMIM:601631
disease_name: ANTERIOR SEGMENT DYSGENESIS 3
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: PITX2
disease_id: OMIM:180500
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 1
gene_symbol: IGF1R
disease_id: OMIM:270450
disease_name: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
Phenotype: Corneal scarring (HP:0000559)
Associated genes and diseases:
gene_symbol: POLA1
disease_id: OMIM:301220
disease_name: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED
gene_symbol: UROS
disease_id: OMIM:263700
disease_name: PORPHYRIA, CONGENITAL ERYTHROPOIETIC
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: ZFHX2
disease_id: OMIM:147430
disease_name: MARSILI SYNDROME
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: PRDM12
disease_id: OMIM:616488
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: SIX6
disease_id: OMIM:212550
disease_name: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
gene_symbol: ERCC4
disease_id: OMIM:610965
disease_name: XFE PROGEROID SYNDROME
gene_symbol: COL17A1
disease_id: ORPHA:293381
disease_name: Epithelial recurrent erosion dystrophy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
gene_symbol: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: TGFBI
disease_id: ORPHA:98964
disease_name: Lattice corneal dystrophy type I
Biber-Haab-Dimmer dystrophy
Classic lattice corneal dystrophy
LCD1
LCDI
Lattice corneal dystrophy type 1
gene_symbol: TGFBI
disease_id: OMIM:602082
disease_name: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: COL7A1
disease_id: OMIM:226600
disease_name: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: GJB2
disease_id: OMIM:148210
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: PRDM5
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: ZNF469
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
Phenotype: Leukocoria (HP:0000555)
Associated genes and diseases:
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
gene_symbol: ATOH7
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: NDP
disease_id: OMIM:310600
disease_name: NORRIE DISEASE
gene_symbol: NDP
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: FZD4
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
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
Phenotype: Typified by age-related disease onset (HP:0003831)
Associated genes and diseases:
gene_symbol: RP1L1
disease_id: OMIM:613587
disease_name: OCCULT MACULAR DYSTROPHY
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: GUCY2D
disease_id: OMIM:601777
disease_name: CONE-ROD DYSTROPHY 6
gene_symbol: DZIP1
disease_id: OMIM:610840
disease_name: MITRAL VALVE PROLAPSE 3
gene_symbol: DCHS1
disease_id: OMIM:607829
disease_name: MITRAL VALVE PROLAPSE 2
Phenotype: Abnormality of the tibial plateaux (HP:0003832)
Associated genes and diseases:
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
Phenotype: Shoulder subluxation (HP:0003835)
Associated genes and diseases:
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
Phenotype: Stippled calcification of the shoulder (HP:0003836)
Associated genes and diseases:
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated genes and diseases:
gene_symbol: TP63
disease_id: OMIM:106260
disease_name: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
gene_symbol: TP63
disease_id: OMIM:603543
disease_name: LIMB-MAMMARY SYNDROME
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: FGFR3
disease_id: OMIM:620192
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME 2
gene_symbol: SMCHD1
disease_id: OMIM:603457
disease_name: BOSMA ARHINIA MICROPHTHALMIA SYNDROME
gene_symbol: PAX3
disease_id: ORPHA:1529
disease_name: Craniofacial-deafness-hand syndrome
CDHS
Craniofacial-hearing loss-hand syndrome
Sommer-Young-Wee-Frye syndrome
gene_symbol: NDUFB11
disease_id: OMIM:300952
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
gene_symbol: IGSF3
disease_id: OMIM:149700
disease_name: LACRIMAL DUCT DEFECT
Phenotype: Thick pachygyria (HP:0020187)
Associated genes and diseases:
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PI4KA
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
Phenotype: Multilobulated spleen (HP:0020186)
Associated genes and diseases:
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
Phenotype: Fragmented epiphyses of the upper limbs (HP:0003841)
Associated genes and diseases:
gene_symbol: COL9A1
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A2
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A3
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
Phenotype: Irregular epiphyses of the upper limbs (HP:0003842)
Associated genes and diseases:
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
Phenotype: Abnormal upper limb metaphysis morphology (HP:0009809)
Associated genes and diseases:
gene_symbol: RPL13
disease_id: OMIM:618728
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: COMP
disease_id: OMIM:177170
disease_name: PSEUDOACHONDROPLASIA
gene_symbol: SNRPN
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: NDN
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: MAGEL2
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: COL2A1
disease_id: ORPHA:85198
disease_name: Dysspondyloenchondromatosis
gene_symbol: MMP9
disease_id: ORPHA:1040
disease_name: Metaphyseal anadysplasia
Maroteaux-Verloes-Stanescu syndrome
Regressive metaphyseal dysplasia
gene_symbol: MMP13
disease_id: ORPHA:1040
disease_name: Metaphyseal anadysplasia
Maroteaux-Verloes-Stanescu syndrome
Regressive metaphyseal dysplasia
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: COL10A1
disease_id: ORPHA:174
disease_name: Metaphyseal chondrodysplasia, Schmid type
Phenotype: Flared upper limb metaphysis (HP:0003849)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
Phenotype: Hypometric saccades (HP:0000571)
Associated genes and diseases:
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: MME
disease_id: ORPHA:497764
disease_name: Spinocerebellar ataxia type 43
SCA43
gene_symbol: MME
disease_id: OMIM:617018
disease_name: SPINOCEREBELLAR ATAXIA 43
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: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: NKX6-2
disease_id: ORPHA:527497
disease_name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
SPAX8
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: COQ5
disease_id: OMIM:619028
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 9
gene_symbol: SPTBN2
disease_id: OMIM:615386
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
gene_symbol: MAPT
disease_id: ORPHA:240094
disease_name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
PSP-PAGF
PSP-pure akinesia with gait freezing
gene_symbol: APTX
disease_id: OMIM:208920
disease_name: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: GRM1
disease_id: ORPHA:324262
disease_name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
SCAR13
gene_symbol: SLC1A3
disease_id: OMIM:612656
disease_name: EPISODIC ATAXIA, TYPE 6
gene_symbol: MYORG
disease_id: OMIM:618317
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
gene_symbol: TUBB4A
disease_id: OMIM:612438
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 6
gene_symbol: DNAJC6
disease_id: OMIM:615528
disease_name: PARKINSON DISEASE 19A, JUVENILE-ONSET
gene_symbol: TSPOAP1
disease_id: OMIM:620453
disease_name: DYSTONIA 22, JUVENILE-ONSET
gene_symbol: MRE11
disease_id: OMIM:604391
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
gene_symbol: NPHP1
disease_id: OMIM:609583
disease_name: JOUBERT SYNDROME 4
gene_symbol: GBA1
disease_id: OMIM:231005
disease_name: GAUCHER DISEASE, TYPE IIIC