TaoMedAI/RareMedData huggingface dataset:
Phenotype: Antegonial notching of mandible (HP:0003779)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Phenotype: Femoral retroversion (HP:0008796)
Associated genes and diseases:
gene_symbol: ACTB
disease_id: ORPHA:79107
disease_name: Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
gene_symbol: ACTB
disease_id: OMIM:607371
disease_name: DYSTONIA, JUVENILE-ONSET
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: PI4KA
disease_id: OMIM:616531
disease_name: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
Phenotype: Type 1 collagen overmodification (HP:0003784)
Associated genes and diseases:
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated genes and diseases:
gene_symbol: GCH1
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: OMIM:619911
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: TH
disease_id: OMIM:605407
disease_name: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: TH
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: PNPO
disease_id: OMIM:610090
disease_name: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
gene_symbol: PTS
disease_id: OMIM:261640
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: DDC
disease_id: ORPHA:35708
disease_name: Aromatic L-amino acid decarboxylase deficiency
AADC deficiency
gene_symbol: TSPOAP1
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
Phenotype: Type 1 and type 2 muscle fiber minicore regions (HP:0003787)
Associated genes and diseases:
gene_symbol: RYR1
disease_id: OMIM:255320
disease_name: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
gene_symbol: SELENON
disease_id: OMIM:602771
disease_name: RIGID SPINE MUSCULAR DYSTROPHY 1
gene_symbol: MEGF10
disease_id: OMIM:620249
disease_name: CONGENITAL MYOPATHY 10B, MILD VARIANT
Phenotype: Minicore myopathy (HP:0003789)
Associated genes and diseases:
gene_symbol: SELENON
disease_id: OMIM:602771
disease_name: RIGID SPINE MUSCULAR DYSTROPHY 1
gene_symbol: RYR1
disease_id: ORPHA:424107
disease_name: Congenital myopathy with myasthenic-like onset
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: RYR1
disease_id: OMIM:255320
disease_name: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
gene_symbol: MEGF10
disease_id: OMIM:620249
disease_name: CONGENITAL MYOPATHY 10B, MILD VARIANT
gene_symbol: FXR1
disease_id: OMIM:618823
disease_name: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS
gene_symbol: CFL2
disease_id: OMIM:610687
disease_name: NEMALINE MYOPATHY 7
gene_symbol: TNNT1
disease_id: OMIM:620386
disease_name: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET
gene_symbol: TRIP4
disease_id: ORPHA:486815
disease_name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular dystrophy, Davignon-Chauveau type
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: MYH7
disease_id: ORPHA:59135
disease_name: Laing distal myopathy
Distal myopathy type 1
MPD1
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated genes and diseases:
gene_symbol: DYSF
disease_id: OMIM:254130
disease_name: MIYOSHI MUSCULAR DYSTROPHY 1
gene_symbol: GNE
disease_id: OMIM:605820
disease_name: NONAKA MYOPATHY
gene_symbol: PSEN1
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: PSEN2
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: TOMM40
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: APP
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: TREM2
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: ABCA7
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: SORL1
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
Phenotype: Short middle phalanx of toe (HP:0003795)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:606835
disease_name: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: HOXD13
disease_id: OMIM:186000
disease_name: SYNPOLYDACTYLY 1
Phenotype: Irregular iliac crest (HP:0003796)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: ORPHA:93316
disease_name: Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: GPX4
disease_id: ORPHA:93317
disease_name: Spondylometaphyseal dysplasia, Sedaghatian type
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: DYM
disease_id: OMIM:607326
disease_name: SMITH-MCCORT DYSPLASIA 1
gene_symbol: DYM
disease_id: ORPHA:239
disease_name: Dyggve-Melchior-Clausen disease
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
Phenotype: Marked delay in bone age (HP:0003799)
Associated genes and diseases:
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance syndrome
gene_symbol: LHX4
disease_id: OMIM:262700
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 4
Phenotype: Triceps hyperreflexia (HP:0033204)
Associated genes and diseases:
gene_symbol: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
Phenotype: Biceps hyperreflexia (HP:0033205)
Associated genes and diseases:
gene_symbol: ERLIN2
disease_id: OMIM:611225
disease_name: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
Phenotype: Hyperactive Achilles reflex (HP:0033206)
Associated genes and diseases:
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: ANO10
disease_id: OMIM:613728
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
Phenotype: Increased CD21low B cell proportion (HP:0033207)
Associated genes and diseases:
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: RASGRP1
disease_id: OMIM:618534
disease_name: IMMUNODEFICIENCY 64
Phenotype: Alveolar capillary dysplasia (HP:0033208)
Associated genes and diseases:
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
Phenotype: Congenital alveolar dysplasia (HP:0033210)
Associated genes and diseases:
gene_symbol: WT1
disease_id: OMIM:608978
disease_name: MEACHAM SYNDROME
Phenotype: Abnormal total iron binding capacity (HP:0033212)
Associated genes and diseases:
gene_symbol: KIF23
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: RACGAP1
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: SLC30A10
disease_id: OMIM:613280
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 1
gene_symbol: SLC30A10
disease_id: ORPHA:309854
disease_name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
gene_symbol: ABCD3
disease_id: OMIM:616278
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
Phenotype: Elevated urine suberic acid level (HP:0033213)
Associated genes and diseases:
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: MLYCD
disease_id: OMIM:248360
disease_name: MALONYL-CoA DECARBOXYLASE DEFICIENCY
Phenotype: Increased CSF glutamate concentration (HP:0500200)
Associated genes and diseases:
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
Phenotype: Abnormal CSF arginine concentration (HP:0500202)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
Phenotype: Decreased CSF arginine concentration (HP:0500204)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
Phenotype: Abnormal CSF aspartate family amino acid concentration (HP:0500205)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Phenotype: Abnormal CSF lysine concentration (HP:0500206)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
Phenotype: Increased CSF lysine concentration (HP:0500208)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
Phenotype: Abnormal CSF methionine concentration (HP:0500209)
Associated genes and diseases:
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Phenotype: Recurrent viral pneumonia (HP:0033214)
Associated genes and diseases:
gene_symbol: IFIH1
disease_id: OMIM:619773
disease_name: IMMUNODEFICIENCY 95
Phenotype: Invasive fungal infection (HP:0020101)
Associated genes and diseases:
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated genes and diseases:
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: ZAP70
disease_id: OMIM:269840
disease_name: IMMUNODEFICIENCY 48
gene_symbol: ZBTB24
disease_id: OMIM:614069
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
gene_symbol: IL21R
disease_id: OMIM:615207
disease_name: IMMUNODEFICIENCY 56
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: IL2RG
disease_id: OMIM:312863
disease_name: COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: C1QB
disease_id: OMIM:620321
disease_name: C1q DEFICIENCY 2
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
gene_symbol: IKBKG
disease_id: OMIM:300636
disease_name: IMMUNODEFICIENCY 33
Phenotype: Severe toxoplasmosis (HP:0020105)
Associated genes and diseases:
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: IL12RB1
disease_id: ORPHA:319552
disease_name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Phenotype: Unusual protozoan infection (HP:0020104)
Associated genes and diseases:
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: IL12RB1
disease_id: ORPHA:319552
disease_name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
gene_symbol: PIK3CD
disease_id: ORPHA:693661
disease_name: ORPHA:693661
gene_symbol: MBL2
disease_id: OMIM:614372
disease_name: MANNOSE-BINDING LECTIN DEFICIENCY
Phenotype: 2-ethylhydracylic aciduria (HP:0033220)
Associated genes and diseases:
gene_symbol: ACADSB
disease_id: OMIM:610006
disease_name: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Phenotype: Increased CD4:CD8 ratio (HP:0033221)
Associated genes and diseases:
gene_symbol: ZAP70
disease_id: OMIM:617006
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
gene_symbol: CTLA4
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CD28
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: TNFRSF1B
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated genes and diseases:
gene_symbol: GATA2
disease_id: OMIM:614038
disease_name: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: CASP8
disease_id: OMIM:607271
disease_name: CASPASE 8 DEFICIENCY
gene_symbol: WAS
disease_id: OMIM:300299
disease_name: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: UNC119
disease_id: OMIM:615518
disease_name: IMMUNODEFICIENCY 13
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: IL2RB
disease_id: OMIM:618495
disease_name: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: RFXAP
disease_id: OMIM:620817
disease_name: MHC CLASS II DEFICIENCY 4
Phenotype: Increased CSF methionine concentration (HP:0500210)
Associated genes and diseases:
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Phenotype: Abnormal CSF aromatic amino acid concentration (HP:0500214)
Associated genes and diseases:
gene_symbol: GCH1
disease_id: OMIM:233910
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
Phenotype: Abnormal CSF phenylalanine concentration (HP:0500215)
Associated genes and diseases:
gene_symbol: GCH1
disease_id: OMIM:233910
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
Phenotype: Brachioradialis areflexia (HP:0033229)
Associated genes and diseases:
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
Phenotype: Abnormal retinal nerve fiber layer morphology (HP:0020119)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: SACS
disease_id: ORPHA:98
disease_name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS
Autosomal recessive spastic ataxia type 6
SPAX6
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: OPA1
disease_id: ORPHA:1215
disease_name: Autosomal dominant optic atrophy plus syndrome
ADOA+
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: DNAJC30
disease_id: OMIM:619382
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
Phenotype: Abnormal regulatory T cell proportion (HP:0020111)
Associated genes and diseases:
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
Phenotype: Persistent human papillomavirus infection (HP:0020114)
Associated genes and diseases:
gene_symbol: IL7
disease_id: OMIM:618309
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5
gene_symbol: PIK3CD
disease_id: ORPHA:693661
disease_name: ORPHA:693661
gene_symbol: TMC8
disease_id: OMIM:618231
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
Phenotype: Decreased proportion of regulatory T cells (HP:0020113)
Associated genes and diseases:
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY