TaoMedAI/RareMedData huggingface dataset:
Phenotype: Increased size of nasopharyngeal adenoids (HP:0040261)
Associated genes and diseases:
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ZBTB7A
disease_id: OMIM:619769
disease_name: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
Phenotype: Glue ear (HP:0040262)
Associated genes and diseases:
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
Phenotype: Temporomandibular joint ankylosis (HP:0012478)
Associated genes and diseases:
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: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Phenotype: Jaw pain (HP:0040264)
Associated genes and diseases:
gene_symbol: SCN9A
disease_id: OMIM:133020
disease_name: ERYTHERMALGIA, PRIMARY
gene_symbol: PRNP
disease_id: ORPHA:280397
disease_name: Familial Alzheimer-like prion disease
Phenotype: Upper limb muscle hypertrophy (HP:0040265)
Associated genes and diseases:
gene_symbol: PLEC
disease_id: ORPHA:254361
disease_name: Plectin-related limb-girdle muscular dystrophy R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
Phenotype: Proximal upper limb muscle hypertrophy (HP:0040266)
Associated genes and diseases:
gene_symbol: PLEC
disease_id: ORPHA:254361
disease_name: Plectin-related limb-girdle muscular dystrophy R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
Phenotype: Epididymal cyst (HP:0030424)
Associated genes and diseases:
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: PIK3CA
disease_id: ORPHA:314662
disease_name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: HNF1B
disease_id: OMIM:137920
disease_name: RENAL CYSTS AND DIABETES SYNDROME
Phenotype: Splenic cyst (HP:0030423)
Associated genes and diseases:
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
Phenotype: Cutaneous myxoma (HP:0030428)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Ossifying fibroma of the jaw (HP:0030427)
Associated genes and diseases:
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Phenotype: Ossifying fibroma (HP:0030426)
Associated genes and diseases:
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Phenotype: Cortical sclerosis of the iliac wing (HP:0033701)
Associated genes and diseases:
gene_symbol: PLEKHM1
disease_id: OMIM:611497
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6
Phenotype: Elevated urinary homogentisic acid (HP:0033704)
Associated genes and diseases:
gene_symbol: HGD
disease_id: ORPHA:56
disease_name: Alkaptonuria
Hereditary ochronosis
Homogentisic acid oxidase deficiency
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA
Phenotype: Perioral hyperkeratosis (HP:0033707)
Associated genes and diseases:
gene_symbol: PERP
disease_id: OMIM:619208
disease_name: OLMSTED SYNDROME 2
gene_symbol: KRT16
disease_id: OMIM:613000
disease_name: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
Phenotype: Increased sputum production (HP:0033709)
Associated genes and diseases:
gene_symbol: SERPINA1
disease_id: OMIM:613490
disease_name: ALPHA-1-ANTITRYPSIN DEFICIENCY
Phenotype: Osteochondroma (HP:0030431)
Associated genes and diseases:
gene_symbol: EXT1
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT2
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: COL2A1
disease_id: OMIM:609162
disease_name: CZECH DYSPLASIA
gene_symbol: FGFR3
disease_id: OMIM:610474
disease_name: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: NFATC2
disease_id: OMIM:620232
disease_name: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
gene_symbol: ACVR1
disease_id: ORPHA:337
disease_name: Fibrodysplasia ossificans progressiva
FOP
Myositis ossificans progressiva
Stone man syndrome
Phenotype: Pilomatrixoma (HP:0030434)
Associated genes and diseases:
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: CTNNB1
disease_id: ORPHA:91414
disease_name: Pilomatrixoma
Epithelioma calcificans of Malherbe
Pilomatricoma
gene_symbol: CTNNB1
disease_id: OMIM:132600
disease_name: PILOMATRIXOMA
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: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
Phenotype: Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272)
Associated genes and diseases:
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
Phenotype: Fibrofolliculoma (HP:0030436)
Associated genes and diseases:
gene_symbol: PRDM10
disease_id: OMIM:620459
disease_name: BIRT-HOGG-DUBE SYNDROME 2
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
Phenotype: Neuroma (HP:0030430)
Associated genes and diseases:
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: PDCD10
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: PIK3CA
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: CCM2
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: KRIT1
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
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: Anal canal neoplasm (HP:0030437)
Associated genes and diseases:
gene_symbol: DOCK8
disease_id: ORPHA:217390
disease_name: Combined immunodeficiency due to DOCK8 deficiency
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
Phenotype: Pulmonary interstitial thickening (HP:0033711)
Associated genes and diseases:
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
gene_symbol: BMPR2
disease_id: OMIM:265450
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
gene_symbol: CSF2RB
disease_id: OMIM:614370
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
Phenotype: Repeated implantation failure (HP:0033712)
Associated genes and diseases:
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: ZFP36L2
disease_id: OMIM:620154
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13
gene_symbol: REC114
disease_id: OMIM:619176
disease_name: OOCYTE MATURATION DEFECT 10
Phenotype: Hippocampal sclerosis (HP:0033715)
Associated genes and diseases:
gene_symbol: CNTN2
disease_id: OMIM:615400
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
Phenotype: EEG with frontal epileptiform discharges (HP:0033716)
Associated genes and diseases:
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: FRRS1L
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: GRIN2A
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PI4KA
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
Phenotype: EEG with temporal epileptiform discharges (HP:0033717)
Associated genes and diseases:
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: ARHGEF9
disease_id: ORPHA:163985
disease_name: Hyperekplexia-epilepsy syndrome
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS
Phenotype: EEG with central epileptiform discharges (HP:0033718)
Associated genes and diseases:
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PI4KA
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
Phenotype: EEG with parietal epileptiform discharges (HP:0033719)
Associated genes and diseases:
gene_symbol: TBC1D24
disease_id: ORPHA:163727
disease_name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy exercise-induced dystonia
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PI4KA
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
Phenotype: Anal margin squamous cell carcinoma (HP:0030442)
Associated genes and diseases:
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
Phenotype: Abnormal axial muscle morphology (HP:0040286)
Associated genes and diseases:
gene_symbol: MAPT
disease_id: ORPHA:240085
disease_name: Progressive supranuclear palsy-predominant parkinsonism syndrome
PSP-p
PSP-parkinsonism
gene_symbol: MAPT
disease_id: ORPHA:240071
disease_name: Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
gene_symbol: PLEC
disease_id: ORPHA:254361
disease_name: Plectin-related limb-girdle muscular dystrophy R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
Phenotype: Axial muscle atrophy (HP:0040287)
Associated genes and diseases:
gene_symbol: PLEC
disease_id: ORPHA:254361
disease_name: Plectin-related limb-girdle muscular dystrophy R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
Phenotype: Cyclically decreased total neutrophil count (HP:0040289)
Associated genes and diseases:
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: ELANE
disease_id: OMIM:162800
disease_name: CYCLIC NEUTROPENIA
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: SLC37A4
disease_id: OMIM:232240
disease_name: GLYCOGEN STORAGE DISEASE Ic
Phenotype: Atypical pulmonary carcinoid tumor (HP:0030446)
Associated genes and diseases:
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
Phenotype: Anal margin neoplasm (HP:0030440)
Associated genes and diseases:
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
Phenotype: EEG with occipital epileptiform discharges (HP:0033720)
Associated genes and diseases:
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: POLG
disease_id: ORPHA:254881
disease_name: Spinocerebellar ataxia with epilepsy
MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: TBC1D2B
disease_id: OMIM:619323
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
Phenotype: EEG with centrotemporal epileptiform discharges (HP:0033721)
Associated genes and diseases:
gene_symbol: IQSEC2
disease_id: ORPHA:217377
disease_name: Microduplication Xp11.22p11.23 syndrome
Dup(X)(p11.22p11.23)
Trisomy Xp11.22p11.23
gene_symbol: FRRS1L
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: GRIN2A
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: GRIN2A
disease_id: ORPHA:1945
disease_name: Self-limited epilepsy with centrotemporal spikes
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy
SeLECTS
gene_symbol: GRIN2A
disease_id: OMIM:245570
disease_name: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: SRPX2
disease_id: ORPHA:1945
disease_name: Self-limited epilepsy with centrotemporal spikes
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy
SeLECTS
gene_symbol: GABRG2
disease_id: ORPHA:1945
disease_name: Self-limited epilepsy with centrotemporal spikes
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy
SeLECTS
Phenotype: Abnormal cerebral venous sinus morphology (HP:0033723)
Associated genes and diseases:
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Cerebral venous sinus thrombosis (HP:0033724)
Associated genes and diseases:
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
Phenotype: Mesenteric cyst (HP:0030451)
Associated genes and diseases:
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: TMEM94
disease_id: OMIM:618316
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
Phenotype: Skeletal muscle steatosis (HP:0040291)
Associated genes and diseases:
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Phenotype: Right hemiplegia (HP:0040293)
Associated genes and diseases:
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1