TaoMedAI/RareMedData huggingface dataset:
Phenotype: Chronic bronchitis (HP:0004469)
Associated genes and diseases:
gene_symbol: DNMT3B
disease_id: OMIM:242860
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: SCNN1G
disease_id: OMIM:613071
disease_name: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
gene_symbol: SERPINA1
disease_id: OMIM:613490
disease_name: ALPHA-1-ANTITRYPSIN DEFICIENCY
gene_symbol: ODAD2
disease_id: OMIM:615451
disease_name: CILIARY DYSKINESIA, PRIMARY, 23
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: ZBTB24
disease_id: OMIM:614069
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
gene_symbol: CFTR
disease_id: OMIM:211400
disease_name: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
gene_symbol: SCNN1B
disease_id: OMIM:211400
disease_name: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
gene_symbol: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: TRAF3IP1
disease_id: OMIM:616629
disease_name: SENIOR-LOKEN SYNDROME 9
gene_symbol: RSPH4A
disease_id: OMIM:612649
disease_name: CILIARY DYSKINESIA, PRIMARY, 11
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: SCNN1A
disease_id: OMIM:613021
disease_name: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: POLD1
disease_id: OMIM:620836
disease_name: IMMUNODEFICIENCY 120
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: TAP2
disease_id: OMIM:620813
disease_name: MHC CLASS I DEFICIENCY 2
gene_symbol: DRC2
disease_id: OMIM:615504
disease_name: CILIARY DYSKINESIA, PRIMARY, 27
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
Phenotype: Long eyelashes in irregular rows (HP:0007740)
Associated genes and diseases:
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: SLC25A24
disease_id: ORPHA:2963
disease_name: Progeroid syndrome, Petty type
Fontaine progeroid syndrome
Petty syndrome
Petty-Laxova-Wiedemann syndrome
Phenotype: Aplasia cutis congenita over the scalp vertex (HP:0004471)
Associated genes and diseases:
gene_symbol: BMS1
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: BMS1
disease_id: OMIM:107600
disease_name: APLASIA CUTIS CONGENITA, NONSYNDROMIC
gene_symbol: PLEC
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: UBA2
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: ITGB4
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: DLL4
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
gene_symbol: CDH1
disease_id: OMIM:119580
disease_name: BLEPHAROCHEILODONTIC SYNDROME 1
Phenotype: Mandibular hyperostosis (HP:0004472)
Associated genes and diseases:
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated genes and diseases:
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: CTSK
disease_id: OMIM:265800
disease_name: PYCNODYSOSTOSIS
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: GH1
disease_id: OMIM:262400
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: DSE
disease_id: OMIM:615539
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
Phenotype: Aplasia cutis congenita over parietal area (HP:0004476)
Associated genes and diseases:
gene_symbol: ARHGAP31
disease_id: OMIM:100300
disease_name: ADAMS-OLIVER SYNDROME 1
Phenotype: Juvenile epithelial corneal dystrophy (HP:0007755)
Associated genes and diseases:
gene_symbol: TGFBI
disease_id: OMIM:602082
disease_name: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated genes and diseases:
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
Phenotype: Cessation of head growth (HP:0004485)
Associated genes and diseases:
gene_symbol: EIF2B1
disease_id: OMIM:603896
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
gene_symbol: UBE3A
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: UBE3A
disease_id: ORPHA:98795
disease_name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
UPD(15)pat
gene_symbol: UBE3A
disease_id: ORPHA:411511
disease_name: Angelman syndrome due to a point mutation
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: OCA2
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: SNRPN
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
Phenotype: Acrobrachycephaly (HP:0004487)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: ORPHA:87
disease_name: Apert syndrome
ACS1
Acrocephalosyndactyly type 1
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
Phenotype: Macrocephaly at birth (HP:0004488)
Associated genes and diseases:
gene_symbol: SLC16A2
disease_id: ORPHA:59
disease_name: Allan-Herndon-Dudley syndrome
AHDS
MCT8 deficiency
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: BIN1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: MTMR14
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: MYF6
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: DNM2
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: RYR1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
Phenotype: Crystalline corneal dystrophy (HP:0007760)
Associated genes and diseases:
gene_symbol: CYP4V2
disease_id: ORPHA:41751
disease_name: Bietti crystalline dystrophy
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
gene_symbol: UBIAD1
disease_id: OMIM:121800
disease_name: SCHNYDER CORNEAL DYSTROPHY
Phenotype: Pericentral scotoma (HP:0007761)
Associated genes and diseases:
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
Phenotype: Deep anterior chamber (HP:0007765)
Associated genes and diseases:
gene_symbol: CHRDL1
disease_id: OMIM:309300
disease_name: MEGALOCORNEA
gene_symbol: CYP1B1
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: LTBP2
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: LTBP2
disease_id: OMIM:251750
disease_name: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
gene_symbol: MYOC
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: TEK
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated genes and diseases:
gene_symbol: HESX1
disease_id: OMIM:182230
disease_name: SEPTOOPTIC DYSPLASIA
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: ORPHA:959
disease_name: Acro-renal-ocular 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: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: NR2F1
disease_id: ORPHA:401777
disease_name: Optic atrophy-intellectual disability syndrome
BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome
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
gene_symbol: TRIT1
disease_id: OMIM:617873
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
gene_symbol: FANCB
disease_id: OMIM:300514
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP B
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: FZD5
disease_id: OMIM:620731
disease_name: MICROPHTHALMIA/COLOBOMA 11
gene_symbol: DDHD2
disease_id: ORPHA:320380
disease_name: Autosomal recessive spastic paraplegia type 54
SPG54
gene_symbol: GDF6
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: GDF3
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: NFIX
disease_id: ORPHA:420179
disease_name: Malan overgrowth syndrome
Sotos syndrome 2
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated genes and diseases:
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: COL1A1
disease_id: ORPHA:1310
disease_name: Caffey disease
Infantile cortical hyperostosis
gene_symbol: COL1A1
disease_id: OMIM:114000
disease_name: CAFFEY DISEASE
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: SLC39A14
disease_id: OMIM:144755
disease_name: HYPEROSTOSIS CRANIALIS INTERNA
gene_symbol: COX4I2
disease_id: OMIM:612714
disease_name: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS
gene_symbol: HNRNPA1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: VCP
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: HNRNPA2B1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
Phenotype: Large posterior fontanelle (HP:0004491)
Associated genes and diseases:
gene_symbol: PROP1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX4
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX3
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SLC5A5
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TG
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TPO
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: IYD
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: PEX26
disease_id: OMIM:614872
disease_name: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: TSHR
disease_id: ORPHA:90673
disease_name: Hypothyroidism due to TSH receptor mutations
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Phenotype: Chronic rhinitis due to narrow nasal airway (HP:0004499)
Associated genes and diseases:
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
Phenotype: Peripheral retinal degeneration (HP:0007769)
Associated genes and diseases:
gene_symbol: RS1
disease_id: OMIM:312700
disease_name: RETINOSCHISIS 1, X-LINKED, JUVENILE
gene_symbol: EFEMP1
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: EFEMP1
disease_id: OMIM:126600
disease_name: DOYNE HONEYCOMB RETINAL DYSTROPHY
gene_symbol: CFH
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFI
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: COL2A1
disease_id: OMIM:619248
disease_name: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: COL9A1
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A2
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: LOXL3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: P3H2
disease_id: OMIM:614292
disease_name: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
gene_symbol: KCNJ13
disease_id: OMIM:193230
disease_name: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE
Phenotype: Hypoplasia of the retina (HP:0007770)
Associated genes and diseases:
gene_symbol: POMGNT1
disease_id: OMIM:253280
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
Phenotype: Hypoplasia of the ciliary body (HP:0007774)
Associated genes and diseases:
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
Phenotype: Sparse lower eyelashes (HP:0007776)
Associated genes and diseases:
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: TWIST2
disease_id: ORPHA:1807
disease_name: Focal facial dermal dysplasia type III
FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
Phenotype: Posterior retinal neovascularization (HP:0007778)
Associated genes and diseases:
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
Phenotype: Anterior segment of eye aplasia (HP:0007779)
Associated genes and diseases:
gene_symbol: FOXE3
disease_id: OMIM:610256
disease_name: ANTERIOR SEGMENT DYSGENESIS 2
Phenotype: Cortical pulverulent cataract (HP:0007780)
Associated genes and diseases:
gene_symbol: MAF
disease_id: OMIM:610202
disease_name: CATARACT 21, MULTIPLE TYPES
gene_symbol: LIM2
disease_id: OMIM:615277
disease_name: CATARACT 19, MULTIPLE TYPES
Phenotype: Chorioretinal lacunae (HP:0007858)
Associated genes and diseases:
gene_symbol: DHX16
disease_id: OMIM:618733
disease_name: NEUROMUSCULAR OCULOAUDITORY SYNDROME
gene_symbol: KIF11
disease_id: OMIM:152950
disease_name: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
Phenotype: Patchy atrophy of the retinal pigment epithelium (HP:0007791)
Associated genes and diseases:
gene_symbol: RDH11
disease_id: ORPHA:436245
disease_name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
Phenotype: Microsaccadic pursuit (HP:0007792)
Associated genes and diseases:
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
Phenotype: Granular macular appearance (HP:0007793)
Associated genes and diseases:
gene_symbol: EFEMP1
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFH
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFI
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: PROM1
disease_id: OMIM:608051
disease_name: MACULAR DYSTROPHY, RETINAL, 2
gene_symbol: LRAT
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: SPATA7
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: RPE65
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: LCA5
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: CHM
disease_id: OMIM:303100
disease_name: CHOROIDEREMIA
Phenotype: Anterior cortical cataract (HP:0007795)
Associated genes and diseases:
gene_symbol: PAK2
disease_id: OMIM:618458
disease_name: KNOBLOCH SYNDROME 2
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant