TaoMedAI/RareMedData huggingface dataset:
Phenotype: Laryngotracheal stenosis (HP:0004894)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: SLC26A2
disease_id: OMIM:222600
disease_name: DIASTROPHIC DYSPLASIA
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: ADAMTSL2
disease_id: OMIM:231050
disease_name: GELEOPHYSIC DYSPLASIA 1
gene_symbol: FLNB
disease_id: ORPHA:1190
disease_name: Atelosteogenesis type I
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
Phenotype: Stress/infection-induced lactic acidosis (HP:0004897)
Associated genes and diseases:
gene_symbol: NADK2
disease_id: ORPHA:431361
disease_name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
2,4-dienoyl-CoA reductase deficiency
DECR deficiency with hyperlysinemia
gene_symbol: UQCRFS1
disease_id: OMIM:618775
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
Phenotype: Persistent lactic acidosis (HP:0004898)
Associated genes and diseases:
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
Phenotype: Chronic lactic acidosis (HP:0004925)
Associated genes and diseases:
gene_symbol: BCS1L
disease_id: OMIM:603358
disease_name: GRACILE SYNDROME
gene_symbol: PDHA1
disease_id: OMIM:312170
disease_name: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
Phenotype: Acroparesthesia (HP:0031006)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:356
disease_name: Gerstmann-Straussler-Scheinker syndrome
Subacute spongiform encephalopathy, Gerstmann-Straussler type
gene_symbol: HEXB
disease_id: ORPHA:309162
disease_name: Sandhoff disease, juvenile form
Beta-hexosaminidase subunit beta deficiency, juvenile form
GM2 gangliosidosis, Sandhoff variant, juvenile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
gene_symbol: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: PMP22
disease_id: ORPHA:90658
disease_name: Charcot-Marie-Tooth disease type 1E
CMT1E
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease-hearing loss syndrome
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: COMP
disease_id: OMIM:619161
disease_name: CARPAL TUNNEL SYNDROME 2
Phenotype: Lingual dystonia (HP:0031008)
Associated genes and diseases:
gene_symbol: GNAL
disease_id: ORPHA:329466
disease_name: Autosomal dominant focal dystonia, DYT25 type
DYT25
Dystonia 25
gene_symbol: GNAL
disease_id: OMIM:615073
disease_name: DYSTONIA 25
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: THAP1
disease_id: ORPHA:98806
disease_name: Primary dystonia, DYT6 type
DYT6
Generalized cervical and upper-limb-onset dystonia
Idiopathic torsion dystonia of mixed type
gene_symbol: THAP1
disease_id: OMIM:602629
disease_name: DYSTONIA 6, TORSION
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
Phenotype: Ankylosis (HP:0031013)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: NOG
disease_id: ORPHA:3250
disease_name: Proximal symphalangism
Symphalangism, Cushing type
gene_symbol: GDF5
disease_id: ORPHA:3250
disease_name: Proximal symphalangism
Symphalangism, Cushing type
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: MUSK
disease_id: OMIM:208150
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 1
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: TNFRSF11B
disease_id: ORPHA:1416
disease_name: Familial calcium pyrophosphate deposition
Calcium pyrophosphate dihydrate crystal deposition disease
Familial CC
Familial CPPD
Familial articular chondrocalcinosis
Hereditary CC
Hereditary articular chondrocalcinosis
Hereditary calcium pyrophosphate deposition
gene_symbol: GNAS
disease_id: OMIM:166350
disease_name: OSSEOUS HETEROPLASIA, PROGRESSIVE
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
gene_symbol: MBTPS2
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: TRPV3
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: PERP
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
gene_symbol: ANKH
disease_id: ORPHA:1416
disease_name: Familial calcium pyrophosphate deposition
Calcium pyrophosphate dihydrate crystal deposition disease
Familial CC
Familial CPPD
Familial articular chondrocalcinosis
Hereditary CC
Hereditary articular chondrocalcinosis
Hereditary calcium pyrophosphate deposition
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
gene_symbol: ENPP1
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: ABCC6
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
Phenotype: Arteria lusoria (HP:0031014)
Associated genes and diseases:
gene_symbol: PLD1
disease_id: OMIM:212093
disease_name: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: OMIM:620294
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
Phenotype: Multiple mucosal neuromas (HP:0031023)
Associated genes and diseases:
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Phenotype: Snail-like ilia (HP:0031026)
Associated genes and diseases:
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
Phenotype: Lactescent serum (HP:0031028)
Associated genes and diseases:
gene_symbol: LPL
disease_id: OMIM:238600
disease_name: HYPERLIPOPROTEINEMIA, TYPE I
Phenotype: Elevated circulating carcinoembryonic antigen concentration (HP:0031029)
Associated genes and diseases:
gene_symbol: CSF2RB
disease_id: ORPHA:264675
disease_name: Hereditary pulmonary alveolar proteinosis
Congenital PAP
Congenital pulmonary alveolar proteinosis
gene_symbol: CSF2RA
disease_id: ORPHA:264675
disease_name: Hereditary pulmonary alveolar proteinosis
Congenital PAP
Congenital pulmonary alveolar proteinosis
Phenotype: Decreased acid sphingomyelinase activity (HP:0034300)
Associated genes and diseases:
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
Phenotype: Megalopapilla (HP:0034302)
Associated genes and diseases:
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
Phenotype: Notched T wave (HP:0034303)
Associated genes and diseases:
gene_symbol: ALG10B
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: KCNH2
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
Phenotype: Epsilon wave (HP:0034304)
Associated genes and diseases:
gene_symbol: PKP2
disease_id: OMIM:609040
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
Phenotype: 2:1 atrioventricular block (HP:0034305)
Associated genes and diseases:
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: CALM1
disease_id: OMIM:616247
disease_name: LONG QT SYNDROME 14
Phenotype: Ventricular bigeminy (HP:0034306)
Associated genes and diseases:
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: POLG2
disease_id: OMIM:610131
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
Phenotype: Elevated left ventricular end-diastolic diameter (HP:0034307)
Associated genes and diseases:
gene_symbol: NPPA
disease_id: OMIM:612201
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 6
gene_symbol: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
Phenotype: Prolonged P wave (HP:0034308)
Associated genes and diseases:
gene_symbol: GJA5
disease_id: OMIM:614049
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 11
gene_symbol: SCN3B
disease_id: OMIM:613120
disease_name: BRUGADA SYNDROME 7
Phenotype: Multiflagellar spermatozoa (HP:0034309)
Associated genes and diseases:
gene_symbol: AURKC
disease_id: OMIM:243060
disease_name: SPERMATOGENIC FAILURE 5
gene_symbol: CCDC146
disease_id: OMIM:620850
disease_name: OMIM:620850
gene_symbol: FKBP6
disease_id: OMIM:620103
disease_name: SPERMATOGENIC FAILURE 77
gene_symbol: CT55
disease_id: OMIM:301106
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 7
Phenotype: Elevated carcinoma antigen 125 level (HP:0031030)
Associated genes and diseases:
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
Phenotype: Abnormal retinol-binding protein level (HP:0031031)
Associated genes and diseases:
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
Phenotype: Decreased retinol-binding protein level (HP:0031032)
Associated genes and diseases:
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
Phenotype: Impaired urinary acidification (HP:0031033)
Associated genes and diseases:
gene_symbol: SLC4A1
disease_id: OMIM:179800
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 1
Phenotype: Abnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034)
Associated genes and diseases:
gene_symbol: PAPPA2
disease_id: OMIM:619489
disease_name: SHORT STATURE, DAUBER-ARGENTE TYPE
gene_symbol: IGFALS
disease_id: OMIM:615961
disease_name: ACID-LABILE SUBUNIT DEFICIENCY
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated genes and diseases:
gene_symbol: PNLDC1
disease_id: OMIM:619528
disease_name: SPERMATOGENIC FAILURE 57
gene_symbol: MSH5
disease_id: OMIM:619937
disease_name: SPERMATOGENIC FAILURE 74
gene_symbol: SYCE1
disease_id: OMIM:616950
disease_name: SPERMATOGENIC FAILURE 15
gene_symbol: TERB2
disease_id: OMIM:619645
disease_name: SPERMATOGENIC FAILURE 59
gene_symbol: TERB1
disease_id: OMIM:619646
disease_name: SPERMATOGENIC FAILURE 60
gene_symbol: M1AP
disease_id: OMIM:619108
disease_name: SPERMATOGENIC FAILURE 48
gene_symbol: MOV10L1
disease_id: OMIM:619878
disease_name: SPERMATOGENIC FAILURE 73
gene_symbol: TEX11
disease_id: OMIM:309120
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 2
gene_symbol: TDRD9
disease_id: OMIM:618110
disease_name: SPERMATOGENIC FAILURE 30
gene_symbol: XRCC2
disease_id: OMIM:619145
disease_name: SPERMATOGENIC FAILURE 50
gene_symbol: SHOC1
disease_id: OMIM:619949
disease_name: SPERMATOGENIC FAILURE 75
gene_symbol: KASH5
disease_id: OMIM:620547
disease_name: SPERMATOGENIC FAILURE 88
gene_symbol: SPATA22
disease_id: OMIM:621001
disease_name: OMIM:621001
gene_symbol: TEX15
disease_id: OMIM:617960
disease_name: SPERMATOGENIC FAILURE 25
gene_symbol: STAG3
disease_id: OMIM:619672
disease_name: SPERMATOGENIC FAILURE 61
gene_symbol: RNF212
disease_id: OMIM:619673
disease_name: SPERMATOGENIC FAILURE 62
gene_symbol: ZMYND15
disease_id: OMIM:615842
disease_name: SPERMATOGENIC FAILURE 14
Phenotype: Spermatocyte maturation arrest (HP:0031039)
Associated genes and diseases:
gene_symbol: SHOC1
disease_id: OMIM:619949
disease_name: SPERMATOGENIC FAILURE 75
gene_symbol: KASH5
disease_id: OMIM:620547
disease_name: SPERMATOGENIC FAILURE 88
gene_symbol: SPATA22
disease_id: OMIM:621001
disease_name: OMIM:621001
gene_symbol: TEX15
disease_id: OMIM:617960
disease_name: SPERMATOGENIC FAILURE 25
gene_symbol: STAG3
disease_id: OMIM:619672
disease_name: SPERMATOGENIC FAILURE 61
gene_symbol: RNF212
disease_id: OMIM:619673
disease_name: SPERMATOGENIC FAILURE 62
Phenotype: Post-vaccination yellow fever (HP:0034310)
Associated genes and diseases:
gene_symbol: IFNAR1
disease_id: OMIM:619935
disease_name: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS
Phenotype: Hypoplastic optic chiasm (HP:0034311)
Associated genes and diseases:
gene_symbol: ALDH1A3
disease_id: OMIM:615113
disease_name: MICROPHTHALMIA, ISOLATED 8
gene_symbol: DIAPH1
disease_id: ORPHA:477814
disease_name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
gene_symbol: TRAPPC12
disease_id: OMIM:617669
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME
Phenotype: Hyperdynamic left ventricular ejection fraction (HP:0034313)
Associated genes and diseases:
gene_symbol: VCL
disease_id: OMIM:613255
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
Phenotype: Chronic cough (HP:0034315)
Associated genes and diseases:
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: AGR2
disease_id: OMIM:620233
disease_name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: RELB
disease_id: OMIM:617585
disease_name: IMMUNODEFICIENCY 53
gene_symbol: DAW1
disease_id: OMIM:620570
disease_name: CILIARY DYSKINESIA, PRIMARY, 52
Phenotype: Thinning of the substantia nigra pars compacta (HP:0034316)
Associated genes and diseases:
gene_symbol: NR4A2
disease_id: OMIM:619911
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
Phenotype: CNS vasculitis with reactivation of varicella-zoster virus (HP:0034319)
Associated genes and diseases:
gene_symbol: POLR3F
disease_id: OMIM:619872
disease_name: IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
Phenotype: Round spermatid arrest (HP:0031040)
Associated genes and diseases:
gene_symbol: ZMYND15
disease_id: OMIM:615842
disease_name: SPERMATOGENIC FAILURE 14
Phenotype: Obstruction of the superior vena cava (HP:0031041)
Associated genes and diseases:
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: BAP1
disease_id: ORPHA:50251
disease_name: Pleural mesothelioma
Phenotype: Acral blistering (HP:0031045)
Associated genes and diseases:
gene_symbol: KRT5
disease_id: ORPHA:158681
disease_name: Epidermolysis bullosa simplex with circinate migratory erythema
EBS with circinate migratory erythema
EBS-migr
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: FERMT1
disease_id: OMIM:173650
disease_name: KINDLER SYNDROME
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: COL7A1
disease_id: ORPHA:231568
disease_name: Autosomal dominant generalized dystrophic epidermolysis bullosa
Generalized DDEB
gene_symbol: COL7A1
disease_id: ORPHA:158673
disease_name: Localized dystrophic epidermolysis bullosa, acral form
Localized DEB, acral form
gene_symbol: SMARCAD1
disease_id: OMIM:129200
disease_name: BASAN SYNDROME
gene_symbol: COL17A1
disease_id: ORPHA:251393
disease_name: Localized junctional epidermolysis bullosa
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
gene_symbol: ITGB4
disease_id: ORPHA:251393
disease_name: Localized junctional epidermolysis bullosa
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
gene_symbol: PLEC
disease_id: ORPHA:79401
disease_name: PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
PLEC-related intermediate EBS without extracutaneous involvement
Phenotype: Paraproteinemia (HP:0031047)
Associated genes and diseases:
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: MYD88
disease_id: OMIM:153600
disease_name: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
gene_symbol: CCND1
disease_id: OMIM:254500
disease_name: MYELOMA, MULTIPLE
gene_symbol: LIG4
disease_id: OMIM:254500
disease_name: MYELOMA, MULTIPLE
Phenotype: Muscle fiber intracytoplasmic reducing inclusion bodies (HP:0034320)
Associated genes and diseases:
gene_symbol: FHL1
disease_id: OMIM:300718
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
gene_symbol: FHL1
disease_id: OMIM:300717
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
Phenotype: Elevated circulating guanidinoacetic acid concentration (HP:0034321)
Associated genes and diseases:
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Phenotype: Reduced tissue galactocerebrosidase activity (HP:0034322)
Associated genes and diseases:
gene_symbol: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated genes and diseases:
gene_symbol: MAP2K1
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: BRAF
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: GH1
disease_id: OMIM:262400
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
gene_symbol: GH1
disease_id: OMIM:612781
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
gene_symbol: PROP1
disease_id: OMIM:262600
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 2
gene_symbol: DNA2
disease_id: OMIM:620819
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 4
gene_symbol: MARS2
disease_id: OMIM:616430
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
gene_symbol: CREBBP
disease_id: ORPHA:592574
disease_name: Menke-Hennekam syndrome
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: OTX2
disease_id: OMIM:613986
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: ROBO1
disease_id: OMIM:620303
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: MANF
disease_id: OMIM:620651
disease_name: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME
gene_symbol: TMEM67
disease_id: OMIM:602152
disease_name: RHYNS SYNDROME
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
Phenotype: Brachiocephalic artery aneurysm (HP:0034324)
Associated genes and diseases:
gene_symbol: ACTA2
disease_id: OMIM:613834
disease_name: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Phenotype: Common carotid artery aneurysm (HP:0034325)
Associated genes and diseases:
gene_symbol: ACTA2
disease_id: OMIM:613834
disease_name: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Phenotype: Posterior corneal stroma punctiform multicolored opacities (HP:0034327)
Associated genes and diseases:
gene_symbol: PRDX3
disease_id: OMIM:619871
disease_name: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET
Phenotype: Fibro-obliterative bile-duct lesion (HP:0034328)
Associated genes and diseases:
gene_symbol: ZFYVE19
disease_id: OMIM:619849
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9