TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal brain N-acetyl aspartate level by MRS (HP:0025052)
Associated genes and diseases:
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: NAT8L
disease_id: OMIM:614063
disease_name: N-ACETYLASPARTATE DEFICIENCY
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: SDHAF1
disease_id: OMIM:619166
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: GFM2
disease_id: OMIM:618397
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: NDUFB7
disease_id: OMIM:620135
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: SV2A
disease_id: OMIM:620772
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
gene_symbol: ASPA
disease_id: ORPHA:314911
disease_name: Severe Canavan disease
Infantile Canavan disease
Neonatal Canavan disease
gene_symbol: FARS2
disease_id: OMIM:614946
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
Phenotype: Pleuritis (HP:0002102)
Associated genes and diseases:
gene_symbol: MEFV
disease_id: ORPHA:342
disease_name: Familial Mediterranean fever
Benign paroxysmal peritonitis
Benign recurrent polyserositis
FMF
Familial paroxysmal polyserositis
Periodic disease
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: MEFV
disease_id: OMIM:134610
disease_name: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: NOD2
disease_id: OMIM:617321
disease_name: YAO SYNDROME
gene_symbol: FCGR2A
disease_id: OMIM:152700
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS
gene_symbol: FCGR2B
disease_id: OMIM:152700
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS
gene_symbol: PTPN22
disease_id: OMIM:152700
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: TREX1
disease_id: OMIM:152700
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS
gene_symbol: CTLA4
disease_id: OMIM:152700
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: DNASE1
disease_id: OMIM:152700
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS
gene_symbol: PRG4
disease_id: ORPHA:2848
disease_name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: TNFRSF1A
disease_id: ORPHA:32960
disease_name: Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
Phenotype: Elevated brain N-acetyl aspartate level by MRS (HP:0025053)
Associated genes and diseases:
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
gene_symbol: ASPA
disease_id: ORPHA:314911
disease_name: Severe Canavan disease
Infantile Canavan disease
Neonatal Canavan disease
gene_symbol: FARS2
disease_id: OMIM:614946
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
Phenotype: Hypothalamic atrophy (HP:0025058)
Associated genes and diseases:
gene_symbol: SPG11
disease_id: ORPHA:2822
disease_name: Autosomal recessive spastic paraplegia type 11
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
Phenotype: Abnormal olfactory lobe morphology (HP:0025057)
Associated genes and diseases:
gene_symbol: ANOS1
disease_id: OMIM:308700
disease_name: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: EDN3
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: MITF
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: EDNRB
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SOX10
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated genes and diseases:
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: ACVRL1
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: GDF2
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: SMAD4
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: SMAD4
disease_id: OMIM:175050
disease_name: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
gene_symbol: ENG
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated genes and diseases:
gene_symbol: LPIN2
disease_id: OMIM:609628
disease_name: MAJEED SYNDROME
gene_symbol: HBB
disease_id: ORPHA:231222
disease_name: Beta-thalassemia intermedia
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
gene_symbol: HBB
disease_id: ORPHA:90039
disease_name: Hemoglobin D disease
gene_symbol: HBB
disease_id: ORPHA:2133
disease_name: Hemoglobin E disease
gene_symbol: TMPRSS6
disease_id: ORPHA:209981
disease_name: IRIDA syndrome
Iron-refractory iron deficiency anemia
gene_symbol: NHLRC2
disease_id: OMIM:618278
disease_name: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
gene_symbol: STEAP3
disease_id: ORPHA:300298
disease_name: Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic sideroblastic anemia
gene_symbol: STEAP3
disease_id: OMIM:615234
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
gene_symbol: SLC4A1
disease_id: OMIM:611590
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
gene_symbol: GLRX5
disease_id: OMIM:616860
disease_name: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY
gene_symbol: SLC11A2
disease_id: OMIM:206100
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
gene_symbol: SLC25A38
disease_id: OMIM:205950
disease_name: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY
gene_symbol: GTF2E2
disease_id: OMIM:616943
disease_name: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: SPTB
disease_id: OMIM:617948
disease_name: ELLIPTOCYTOSIS 3
Phenotype: Abnormal U wave (HP:0025070)
Associated genes and diseases:
gene_symbol: CAV3
disease_id: OMIM:611818
disease_name: LONG QT SYNDROME 9
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
Phenotype: Prominent U wave (HP:0025072)
Associated genes and diseases:
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated genes and diseases:
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: MATR3
disease_id: OMIM:606070
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 21
gene_symbol: GBE1
disease_id: OMIM:263570
disease_name: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM
gene_symbol: SPG7
disease_id: ORPHA:35689
disease_name: Primary lateral sclerosis
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
gene_symbol: FUS
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: SQSTM1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: VCP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TARDBP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TBK1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: CHCHD10
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: ERLIN2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
Phenotype: Decreased QRS voltage (HP:0025077)
Associated genes and diseases:
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
Phenotype: Abnormal QRS voltage (HP:0025076)
Associated genes and diseases:
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
Phenotype: Increased QRS voltage (HP:0025075)
Associated genes and diseases:
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
Phenotype: Abnormal QRS complex (HP:0025074)
Associated genes and diseases:
gene_symbol: TMEM43
disease_id: OMIM:604400
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: JUP
disease_id: OMIM:611528
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: PRKAG2
disease_id: OMIM:600858
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
gene_symbol: PRKAG2
disease_id: OMIM:194200
disease_name: WOLFF-PARKINSON-WHITE SYNDROME
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: GJA5
disease_id: OMIM:614049
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 11
gene_symbol: PKP2
disease_id: OMIM:609040
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
gene_symbol: CACNA1D
disease_id: OMIM:614896
disease_name: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
gene_symbol: GNB2
disease_id: OMIM:619464
disease_name: SICK SINUS SYNDROME 4
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
Phenotype: Reduction of neutrophil motility (HP:0005400)
Associated genes and diseases:
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: RAC2
disease_id: OMIM:608203
disease_name: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS
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: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1
gene_symbol: CEBPE
disease_id: OMIM:260570
disease_name: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
Phenotype: Increased total B cell count (HP:0005404)
Associated genes and diseases:
gene_symbol: PTPRC
disease_id: OMIM:619924
disease_name: IMMUNODEFICIENCY 105
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: CASP10
disease_id: OMIM:603909
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
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
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: CARD11
disease_id: OMIM:616452
disease_name: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated genes and diseases:
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
gene_symbol: SERPINB7
disease_id: OMIM:615598
disease_name: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
gene_symbol: RSPO1
disease_id: OMIM:610644
disease_name: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
gene_symbol: SULT2B1
disease_id: OMIM:617571
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
gene_symbol: PNPLA1
disease_id: OMIM:615024
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
gene_symbol: DSG1
disease_id: OMIM:148700
disease_name: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE
gene_symbol: KRT10
disease_id: OMIM:146600
disease_name: ICHTHYOSIS HYSTRIX, LAMBERT TYPE
Phenotype: Darier's sign (HP:0025081)
Associated genes and diseases:
gene_symbol: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
Phenotype: Abnormal cutaneous elastic fiber morphology (HP:0025082)
Associated genes and diseases:
gene_symbol: FBLN5
disease_id: OMIM:219100
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: CYP26C1
disease_id: ORPHA:398189
disease_name: Focal facial dermal dysplasia type IV
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: LTBP1
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: EFEMP2
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: CCDC91
disease_id: ORPHA:38
disease_name: Acrokeratoelastoidosis of Costa
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
Phenotype: Recurrent bronchiolitis (HP:0100501)
Associated genes and diseases:
gene_symbol: FCHO1
disease_id: OMIM:619164
disease_name: IMMUNODEFICIENCY 76
gene_symbol: EGFR
disease_id: OMIM:616069
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
gene_symbol: SCNN1A
disease_id: OMIM:613021
disease_name: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2