TaoMedAI/RareMedData huggingface dataset:
Phenotype: Entropion (HP:0000621)
Associated genes and diseases:
gene_symbol: HLA-B
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: IKZF1
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: ALDH1A3
disease_id: OMIM:615113
disease_name: MICROPHTHALMIA, ISOLATED 8
gene_symbol: DDB2
disease_id: OMIM:278740
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
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: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: XPC
disease_id: OMIM:278720
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC2
disease_id: OMIM:278730
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPA
disease_id: OMIM:278700
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: PPP2R1A
disease_id: ORPHA:457284
disease_name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated genes and diseases:
gene_symbol: GBA1
disease_id: OMIM:231005
disease_name: GAUCHER DISEASE, TYPE IIIC
gene_symbol: ATXN3
disease_id: ORPHA:276238
disease_name: Machado-Joseph disease type 1
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: ATXN3
disease_id: ORPHA:276244
disease_name: Machado-Joseph disease type 3
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
gene_symbol: ATXN3
disease_id: ORPHA:276241
disease_name: Machado-Joseph disease type 2
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
gene_symbol: ATXN2
disease_id: ORPHA:98756
disease_name: Spinocerebellar ataxia type 2
SCA2
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: ATXN7
disease_id: OMIM:164500
disease_name: SPINOCEREBELLAR ATAXIA 7
Phenotype: Precocious puberty in females (HP:0010465)
Associated genes and diseases:
gene_symbol: GRIA1
disease_id: OMIM:619931
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: TP63
disease_id: OMIM:620311
disease_name: PREMATURE OVARIAN FAILURE 21
gene_symbol: PPARG
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: FOS
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
Phenotype: Absent testis (HP:0010469)
Associated genes and diseases:
gene_symbol: DHX37
disease_id: ORPHA:983
disease_name: Testicular regression syndrome
ETRS
Embryonic testicular regression syndrome
TRS
Vanishing testes syndrome
Vanishing testis syndrome
XY gonadal agenesis syndrome
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: GDF6
disease_id: OMIM:613094
disease_name: MICROPHTHALMIA, ISOLATED 4
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
Phenotype: Aplasia of the ovary (HP:0010463)
Associated genes and diseases:
gene_symbol: PSMC3IP
disease_id: OMIM:614324
disease_name: OVARIAN DYSGENESIS 3
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: HROB
disease_id: OMIM:620897
disease_name: OMIM:620897
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
Phenotype: Stippled calcification of the humeral epiphyses (HP:0003901)
Associated genes and diseases:
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
Phenotype: Epiphyseal stippling of the humerus (HP:0003902)
Associated genes and diseases:
gene_symbol: FLNB
disease_id: ORPHA:56305
disease_name: Atelosteogenesis type III
AO3
AOIII
Atelosteogenesis type 3
Phenotype: Abnormal humeral metaphysis morphology (HP:0003907)
Associated genes and diseases:
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
Phenotype: Corner fracture of metaphysis (HP:0003908)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:184255
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
gene_symbol: COL2A1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: FN1
disease_id: OMIM:184255
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
gene_symbol: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
Phenotype: Cortical subperiosteal resorption of humeral metaphyses (HP:0003909)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
Phenotype: Retinal arterial tortuosity (HP:0000631)
Associated genes and diseases:
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: DNAJC30
disease_id: OMIM:619382
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1
gene_symbol: SELENOI
disease_id: ORPHA:506353
disease_name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive complex SPG due to Kennedy pathway dysfunction
Autosomal recessive spastic paraplegia type 81
gene_symbol: MT-ND1
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND2
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CO3
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CYB
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ATP6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND5
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4L
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
Phenotype: Impaired ocular abduction (HP:0000634)
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: ROBO3
disease_id: OMIM:607313
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1
gene_symbol: MYMK
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: MYMX
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated genes and diseases:
gene_symbol: ALX1
disease_id: OMIM:613456
disease_name: FRONTONASAL DYSPLASIA 3
gene_symbol: FREM1
disease_id: ORPHA:2717
disease_name: Oculotrichoanal syndrome
MOTA syndrome
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
gene_symbol: TWIST1
disease_id: OMIM:617746
disease_name: SWEENEY-COX SYNDROME
gene_symbol: CDH11
disease_id: OMIM:619736
disease_name: TEEBI HYPERTELORISM SYNDROME 2
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: SLC25A24
disease_id: ORPHA:2095
disease_name: Gorlin-Chaudhry-Moss syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
GCM syndrome
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
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
Phenotype: Abnormality of the urachus (HP:0010478)
Associated genes and diseases:
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: NDUFB8
disease_id: OMIM:618252
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
gene_symbol: RAC2
disease_id: OMIM:608203
disease_name: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
Phenotype: Aplasia of the bladder (HP:0010477)
Associated genes and diseases:
gene_symbol: ITGA6
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
gene_symbol: ITGB4
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
gene_symbol: ITGB4
disease_id: ORPHA:158684
disease_name: Epidermolysis bullosa simplex with pyloric atresia
EBS with pyloric atresia
EBS-PA
gene_symbol: FREM2
disease_id: OMIM:617666
disease_name: FRASER SYNDROME 2
gene_symbol: PLEC
disease_id: ORPHA:158684
disease_name: Epidermolysis bullosa simplex with pyloric atresia
EBS with pyloric atresia
EBS-PA
gene_symbol: CC2D2A
disease_id: OMIM:612284
disease_name: MECKEL SYNDROME, TYPE 6
Phenotype: Aplasia/Hypoplasia of the bladder (HP:0010476)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: ORPHA:85284
disease_name: BRESEK syndrome
BRESHECK syndrome
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: WNT4
disease_id: ORPHA:139466
disease_name: SERKAL syndrome
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: ITGA6
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
gene_symbol: ITGB4
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
gene_symbol: ITGB4
disease_id: ORPHA:158684
disease_name: Epidermolysis bullosa simplex with pyloric atresia
EBS with pyloric atresia
EBS-PA
gene_symbol: FREM2
disease_id: OMIM:617666
disease_name: FRASER SYNDROME 2
gene_symbol: PLEC
disease_id: ORPHA:158684
disease_name: Epidermolysis bullosa simplex with pyloric atresia
EBS with pyloric atresia
EBS-PA
gene_symbol: CC2D2A
disease_id: OMIM:612284
disease_name: MECKEL SYNDROME, TYPE 6
Phenotype: Patent urachus (HP:0010479)
Associated genes and diseases:
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: NDUFB8
disease_id: OMIM:618252
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
Phenotype: Porphyrinuria (HP:0010473)
Associated genes and diseases:
gene_symbol: PPOX
disease_id: OMIM:176200
disease_name: VARIEGATE PORPHYRIA
gene_symbol: PPOX
disease_id: ORPHA:79473
disease_name: Variegate porphyria
Porphyria variegata
Protoporphyrinogen oxidase deficiency
gene_symbol: CPOX
disease_id: ORPHA:79273
disease_name: Hereditary coproporphyria
gene_symbol: UROD
disease_id: OMIM:176100
disease_name: PORPHYRIA CUTANEA TARDA
gene_symbol: SLCO1B3
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
gene_symbol: SLCO1B1
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
gene_symbol: HMBS
disease_id: ORPHA:79276
disease_name: Acute intermittent porphyria
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated genes and diseases:
gene_symbol: ERCC8
disease_id: OMIM:614621
disease_name: UV-SENSITIVE SYNDROME 2
gene_symbol: CPOX
disease_id: ORPHA:79273
disease_name: Hereditary coproporphyria
gene_symbol: PPOX
disease_id: ORPHA:79473
disease_name: Variegate porphyria
Porphyria variegata
Protoporphyrinogen oxidase deficiency
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: FECH
disease_id: ORPHA:79278
disease_name: Autosomal erythropoietic protoporphyria
EPP
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: ABCB7
disease_id: ORPHA:2802
disease_name: X-linked sideroblastic anemia and spinocerebellar ataxia
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
gene_symbol: CLPX
disease_id: OMIM:618015
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, 2
gene_symbol: ALAS2
disease_id: OMIM:300752
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED
Phenotype: Oligosacchariduria (HP:0010471)
Associated genes and diseases:
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: ORPHA:309288
disease_name: Alpha-mannosidosis, adult form
Lysosomal alpha-D-mannosidase deficiency, adult form
gene_symbol: GAA
disease_id: ORPHA:308552
disease_name: Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: SNX14
disease_id: ORPHA:397709
disease_name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: GNPTAB
disease_id: ORPHA:423461
disease_name: Mucolipidosis type III alpha/beta
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
gene_symbol: MANBA
disease_id: OMIM:248510
disease_name: MANNOSIDOSIS, BETA A, LYSOSOMAL
gene_symbol: GLB1
disease_id: ORPHA:79255
disease_name: GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis
Norman-Landing disease
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
Phenotype: Flared humeral metaphysis (HP:0003911)
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: Humeral metaphyseal irregularity (HP:0003913)
Associated genes and diseases:
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE