TaoMedAI/RareMedData huggingface dataset:
Phenotype: Porokeratosis (HP:0200044)
Associated genes and diseases:
gene_symbol: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: SLC17A9
disease_id: OMIM:616063
disease_name: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
gene_symbol: SLC17A9
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: MVK
disease_id: OMIM:175900
disease_name: POROKERATOSIS 3, MULTIPLE TYPES
gene_symbol: MVK
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: MVK
disease_id: ORPHA:735
disease_name: Porokeratosis of Mibelli
gene_symbol: PMVK
disease_id: OMIM:175800
disease_name: POROKERATOSIS 1, MULTIPLE TYPES
gene_symbol: PMVK
disease_id: ORPHA:735
disease_name: Porokeratosis of Mibelli
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: FDPS
disease_id: OMIM:616631
disease_name: POROKERATOSIS 9, MULTIPLE TYPES
gene_symbol: FDPS
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: MVD
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: MVD
disease_id: OMIM:614714
disease_name: POROKERATOSIS 7, MULTIPLE TYPES
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
Phenotype: Cat cry (HP:0200046)
Associated genes and diseases:
gene_symbol: CTNND2
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: SEMA5A
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
Phenotype: Chondritis of pinna (HP:0200047)
Associated genes and diseases:
gene_symbol: UBA1
disease_id: OMIM:301054
disease_name: VEXAS SYNDROME
Phenotype: Cyanotic episode (HP:0200048)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: ORPHA:284417
disease_name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
PSAT deficiency, infantile/juvenile form
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
Phenotype: Upper limb hypertonia (HP:0200049)
Associated genes and diseases:
gene_symbol: TSEN54
disease_id: ORPHA:2524
disease_name: Pontocerebellar hypoplasia type 2
PCH2
gene_symbol: TSEN15
disease_id: ORPHA:2524
disease_name: Pontocerebellar hypoplasia type 2
PCH2
gene_symbol: TSEN34
disease_id: ORPHA:2524
disease_name: Pontocerebellar hypoplasia type 2
PCH2
gene_symbol: TSEN2
disease_id: ORPHA:2524
disease_name: Pontocerebellar hypoplasia type 2
PCH2
gene_symbol: SEPSECS
disease_id: ORPHA:2524
disease_name: Pontocerebellar hypoplasia type 2
PCH2
gene_symbol: MTPAP
disease_id: OMIM:613672
disease_name: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
gene_symbol: MTPAP
disease_id: ORPHA:254343
disease_name: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic ataxia type 4
SPAX4
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: VPS37A
disease_id: ORPHA:319199
disease_name: Autosomal recessive spastic paraplegia type 53
SPG53
gene_symbol: VPS37A
disease_id: OMIM:614898
disease_name: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
gene_symbol: CLDN11
disease_id: OMIM:619328
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 22
Phenotype: Limited neck flexion (HP:0005991)
Associated genes and diseases:
gene_symbol: SELENON
disease_id: OMIM:602771
disease_name: RIGID SPINE MUSCULAR DYSTROPHY 1
gene_symbol: SELENON
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: MYH7
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: TTN
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: FHL1
disease_id: OMIM:300696
disease_name: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
Phenotype: Nodular goiter (HP:0005994)
Associated genes and diseases:
gene_symbol: DICER1
disease_id: OMIM:180295
disease_name: RHABDOMYOSARCOMA, EMBRYONAL, 2
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: SASH1
disease_id: OMIM:618373
disease_name: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: FOXE1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: HABP2
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: MINPP1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
Phenotype: Decreased adipose tissue around neck (HP:0005995)
Associated genes and diseases:
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: ZMPSTE24
disease_id: OMIM:608612
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
Phenotype: Neck joint contracture (HP:0005997)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: ERLIN2
disease_id: ORPHA:209951
disease_name: Autosomal spastic paraplegia type 18
SPG18
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: COL6A2
disease_id: OMIM:255600
disease_name: MYOSCLEROSIS, AUTOSOMAL RECESSIVE
Phenotype: Ureteral atresia (HP:0005999)
Associated genes and diseases:
gene_symbol: NADSYN1
disease_id: OMIM:618845
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3
gene_symbol: EPG5
disease_id: ORPHA:1493
disease_name: Vici syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
gene_symbol: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
Phenotype: Macular scar (HP:0200056)
Associated genes and diseases:
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: CFI
disease_id: OMIM:615439
disease_name: MACULAR DEGENERATION, AGE-RELATED, 13
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
Phenotype: Marcus Gunn pupil (HP:0200057)
Associated genes and diseases:
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
Phenotype: Angiosarcoma (HP:0200058)
Associated genes and diseases:
gene_symbol: FLT4
disease_id: ORPHA:79452
disease_name: Milroy disease
Hereditary lymphedema type I
Nonne-Milroy lymphedema
gene_symbol: EPHB4
disease_id: ORPHA:90186
disease_name: Meige disease
Hereditary lymphedema type II
Meige lymphedema
Phenotype: Recurrent spontaneous abortion (HP:0200067)
Associated genes and diseases:
gene_symbol: F5
disease_id: OMIM:614389
disease_name: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1
gene_symbol: F13B
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13A1
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: HTR1A
disease_id: OMIM:614674
disease_name: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
gene_symbol: F12
disease_id: ORPHA:330
disease_name: Congenital factor XII deficiency
Congenital Hageman factor deficiency
gene_symbol: SERPINC1
disease_id: ORPHA:82
disease_name: Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
gene_symbol: TOP6BL
disease_id: OMIM:618432
disease_name: HYDATIDIFORM MOLE, RECURRENT, 4
gene_symbol: F2
disease_id: OMIM:614390
disease_name: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
gene_symbol: ANXA5
disease_id: OMIM:614391
disease_name: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3
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
gene_symbol: SYCP3
disease_id: OMIM:270960
disease_name: SPERMATOGENIC FAILURE 4
Phenotype: Nonprogressive visual loss (HP:0200068)
Associated genes and diseases:
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated genes and diseases:
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: ARHGEF2
disease_id: OMIM:617523
disease_name: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
gene_symbol: LRP5
disease_id: OMIM:601813
disease_name: EXUDATIVE VITREORETINOPATHY 4
gene_symbol: CNGB3
disease_id: OMIM:262300
disease_name: ACHROMATOPSIA 3
gene_symbol: MT-ATP6
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: NUP62
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: NUP54
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: ADAR
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
Phenotype: Peripheral retinal atrophy (HP:0200070)
Associated genes and diseases:
gene_symbol: MERTK
disease_id: OMIM:613862
disease_name: RETINITIS PIGMENTOSA 38
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
gene_symbol: SLC6A6
disease_id: OMIM:145350
disease_name: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
Phenotype: Peripheral vitreoretinal degeneration (HP:0200071)
Associated genes and diseases:
gene_symbol: P3H2
disease_id: OMIM:614292
disease_name: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
Phenotype: Episodic quadriplegia (HP:0200072)
Associated genes and diseases:
gene_symbol: ATP1A3
disease_id: OMIM:614820
disease_name: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
gene_symbol: ATP1A2
disease_id: OMIM:104290
disease_name: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated genes and diseases:
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
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: DRC2
disease_id: OMIM:615504
disease_name: CILIARY DYSKINESIA, PRIMARY, 27
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: ODAD2
disease_id: OMIM:615451
disease_name: CILIARY DYSKINESIA, PRIMARY, 23
Phenotype: Short nail (HP:0001799)
Associated genes and diseases:
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: P4HA1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: FLNB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
gene_symbol: GZF1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SKI
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CANT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: KIF22
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
gene_symbol: GORAB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CHST3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CSGALNACT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: IFT43
disease_id: OMIM:614099
disease_name: CRANIOECTODERMAL DYSPLASIA 3
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
Phenotype: Narrow nail (HP:0011313)
Associated genes and diseases:
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
Phenotype: Dry hair (HP:0011359)
Associated genes and diseases:
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: GNPTAB
disease_id: ORPHA:576
disease_name: Mucolipidosis type II
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: NECTIN1
disease_id: OMIM:225060
disease_name: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
gene_symbol: KRT74
disease_id: OMIM:194300
disease_name: WOOLLY HAIR, AUTOSOMAL DOMINANT
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: SVBP
disease_id: OMIM:618569
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: BCS1L
disease_id: OMIM:262000
disease_name: BJORNSTAD SYNDROME
gene_symbol: RPL21
disease_id: OMIM:615885
disease_name: HYPOTRICHOSIS 12
gene_symbol: PADI3
disease_id: OMIM:191480
disease_name: UNCOMBABLE HAIR SYNDROME 1
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: LPAR6
disease_id: OMIM:278150
disease_name: HYPOTRICHOSIS 8
gene_symbol: PQBP1
disease_id: ORPHA:93947
disease_name: X-linked intellectual disability, Golabi-Ito-Hall type
gene_symbol: KRT6B
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: KRT17
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
Phenotype: Severe limb shortening (HP:0200083)
Associated genes and diseases:
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
Phenotype: Giant cell hepatitis (HP:0200084)
Associated genes and diseases:
gene_symbol: AMACR
disease_id: ORPHA:79095
disease_name: Congenital bile acid synthesis defect type 4
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
gene_symbol: AMACR
disease_id: OMIM:214950
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
gene_symbol: HSD3B7
disease_id: OMIM:607765
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
gene_symbol: VIPAS39
disease_id: OMIM:613404
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: AKR1D1
disease_id: ORPHA:79303
disease_name: Congenital bile acid synthesis defect type 2
BASD2
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Phenotype: Limb tremor (HP:0200085)
Associated genes and diseases:
gene_symbol: TUBB4A
disease_id: ORPHA:98805
disease_name: Primary dystonia, DYT4 type
DYT4
Hereditary whispering dysphonia
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: TSPOAP1
disease_id: OMIM:620456
disease_name: DYSTONIA 22, ADULT-ONSET
gene_symbol: COL6A3
disease_id: ORPHA:464440
disease_name: Primary dystonia, DYT27 type
gene_symbol: ITPR1
disease_id: ORPHA:98769
disease_name: Spinocerebellar ataxia type 15/16
SCA15/16
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: CARS2
disease_id: ORPHA:477774
disease_name: Combined oxidative phosphorylation defect type 27
COXPD27
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: PMP22
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
gene_symbol: MPZ
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
gene_symbol: CIZ1
disease_id: ORPHA:420492
disease_name: Adult-onset cervical dystonia, DYT23 type
DYT23
Dystonia 23
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: ITPA
disease_id: OMIM:616647
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
gene_symbol: PGAP1
disease_id: ORPHA:401820
disease_name: Autosomal recessive spastic paraplegia type 67
SPG67
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: GRIA3
disease_id: OMIM:300699
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: SNRPN
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: ANO3
disease_id: OMIM:615034
disease_name: DYSTONIA 24
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY