TaoMedAI/RareMedData huggingface dataset:
Phenotype: Myoclonic spasms (HP:0003739)
Associated genes and diseases:
gene_symbol: TXN2
disease_id: ORPHA:478029
disease_name: Combined oxidative phosphorylation defect type 29
COXPD29
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: MT-ATP6
disease_id: ORPHA:644
disease_name: NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
gene_symbol: SLC1A4
disease_id: ORPHA:447997
disease_name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
gene_symbol: RRAGD
disease_id: ORPHA:73224
disease_name: Kidney tubulopathy-dilated cardiomyopathy syndrome
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
Phenotype: Cerebral cortical neurodegeneration (HP:0006964)
Associated genes and diseases:
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Phenotype: Acute necrotizing encephalopathy (HP:0006965)
Associated genes and diseases:
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated genes and diseases:
gene_symbol: HNRNPA1
disease_id: OMIM:610099
disease_name: MYOPATHY, DISTAL, 3
gene_symbol: SCN4A
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: DES
disease_id: OMIM:601419
disease_name: MYOPATHY, MYOFIBRILLAR, 1
Phenotype: Deficit in grammar (HP:0006977)
Associated genes and diseases:
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: FOXP2
disease_id: ORPHA:209908
disease_name: Isolated childhood apraxia of speech
Isolated CAS
Isolated developmental verbal dyspraxia
Pure CAS
Pure childhood apraxia of speech
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
gene_symbol: FOXP2
disease_id: OMIM:602081
disease_name: SPEECH-LANGUAGE DISORDER 1
gene_symbol: MAPT
disease_id: ORPHA:240112
disease_name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
gene_symbol: MAPT
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: CHMP2B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: GRN
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TREM2
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: VCP
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
Phenotype: Dysmyelinating leukodystrophy (HP:0006978)
Associated genes and diseases:
gene_symbol: SOX10
disease_id: ORPHA:163746
disease_name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Neurologic Waardenburg-Shah syndrome
PCWH
WS4 plus
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: DARS2
disease_id: ORPHA:137898
disease_name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
gene_symbol: FA2H
disease_id: OMIM:612319
disease_name: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
Phenotype: Progressive leukoencephalopathy (HP:0006980)
Associated genes and diseases:
gene_symbol: AARS2
disease_id: OMIM:615889
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: KIF5A
disease_id: OMIM:617235
disease_name: MYOCLONUS, INTRACTABLE, NEONATAL
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
Phenotype: Posterior fossa cyst (HP:0007291)
Associated genes and diseases:
gene_symbol: WASHC5
disease_id: OMIM:220210
disease_name: RITSCHER-SCHINZEL SYNDROME 1
gene_symbol: ERCC5
disease_id: OMIM:616570
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 3
gene_symbol: VSX1
disease_id: OMIM:614195
disease_name: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
gene_symbol: PLCH1
disease_id: OMIM:619895
disease_name: HOLOPROSENCEPHALY 14
gene_symbol: GDF6
disease_id: OMIM:118100
disease_name: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: ABAT
disease_id: OMIM:613163
disease_name: GABA-TRANSAMINASE DEFICIENCY
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: DPH1
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
Phenotype: Alobar holoprosencephaly (HP:0006988)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: FGFR1
disease_id: OMIM:615465
disease_name: HARTSFIELD SYNDROME
gene_symbol: ZIC2
disease_id: OMIM:609637
disease_name: HOLOPROSENCEPHALY 5
gene_symbol: STAG2
disease_id: OMIM:301043
disease_name: HOLOPROSENCEPHALY 13, X-LINKED
gene_symbol: PLCH1
disease_id: OMIM:619895
disease_name: HOLOPROSENCEPHALY 14
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Brainstem dysplasia (HP:0002508)
Associated genes and diseases:
gene_symbol: RPGRIP1L
disease_id: OMIM:611560
disease_name: JOUBERT SYNDROME 7
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
Phenotype: Anterior basal encephalocele (HP:0006992)
Associated genes and diseases:
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
Phenotype: Diffuse leukoencephalopathy (HP:0006994)
Associated genes and diseases:
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated genes and diseases:
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: PRNP
disease_id: OMIM:603218
disease_name: HUNTINGTON DISEASE-LIKE 1
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: MT-ATP6
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: NUP62
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: NUP54
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: ADAR
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: VRK1
disease_id: OMIM:607596
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
gene_symbol: LONP1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: PDHA1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: FARS2
disease_id: OMIM:614946
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
Phenotype: Inappropriate absence of fever (HP:0033104)
Associated genes and diseases:
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
Phenotype: Interhypothalamic adhesion (HP:0033105)
Associated genes and diseases:
gene_symbol: CDH2
disease_id: OMIM:618929
disease_name: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME
Phenotype: Elevated circulating D-dimer concentration (HP:0033106)
Associated genes and diseases:
gene_symbol: STAT2
disease_id: OMIM:618886
disease_name: PSEUDO-TORCH SYNDROME 3
gene_symbol: GNA14
disease_id: ORPHA:2122
disease_name: Kaposiform hemangioendothelioma
gene_symbol: HLA-DQB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
Phenotype: 3-hydroxyisovaleric aciduria (HP:0033111)
Associated genes and diseases:
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: HLCS
disease_id: OMIM:253270
disease_name: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
gene_symbol: MCCC1
disease_id: OMIM:210200
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
gene_symbol: IVD
disease_id: ORPHA:33
disease_name: Isovaleric acidemia
Isovaleric acid CoA dehydrogenase deficiency
Phenotype: Gallop rhythm (HP:0033113)
Associated genes and diseases:
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Phenotype: Abnormal right ventricular function (HP:0033118)
Associated genes and diseases:
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: TLL1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: TBX20
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: MYH6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: NKX2-5
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ACTC1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA4
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: SELENON
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: MYH7
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: TTN
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: ATP13A3
disease_id: OMIM:265400
disease_name: PULMONARY HYPERTENSION, PRIMARY, 5
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
Phenotype: Duodenitis (HP:0033117)
Associated genes and diseases:
gene_symbol: ADAM17
disease_id: OMIM:614328
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: CARD8
disease_id: OMIM:619079
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30
Phenotype: Ciliary body coloboma (HP:0020006)
Associated genes and diseases:
gene_symbol: BCOR
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
Phenotype: Absent P wave (HP:0033122)
Associated genes and diseases:
gene_symbol: NPPA
disease_id: OMIM:615745
disease_name: ATRIAL STANDSTILL 2
gene_symbol: SCN5A
disease_id: OMIM:608567
disease_name: SICK SINUS SYNDROME 1
gene_symbol: EMD
disease_id: OMIM:310300
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
Phenotype: Elevated circulating osteopontin level (HP:0033123)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
Phenotype: Abnormal stool urobilinogen concentration (HP:0500114)
Associated genes and diseases:
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
Phenotype: Increased stool urobilinogen concentration (HP:0500115)
Associated genes and diseases:
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
Phenotype: Increased serum sorbitol concentration (HP:0033124)
Associated genes and diseases:
gene_symbol: SORD
disease_id: OMIM:618912
disease_name: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY
Phenotype: Cutaneous necrosis (HP:0033126)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Phenotype: Abnormal shoulder physiology (HP:0033129)
Associated genes and diseases:
gene_symbol: COMP
disease_id: OMIM:177170
disease_name: PSEUDOACHONDROPLASIA
gene_symbol: GNPTAB
disease_id: ORPHA:576
disease_name: Mucolipidosis type II
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
gene_symbol: PKDCC
disease_id: OMIM:618821
disease_name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA
gene_symbol: SGCA
disease_id: ORPHA:62
disease_name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Alpha-sarcoglycan-related LGMD R3
Alpha-sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D
LGMD due to alpha-sarcoglycan deficiency
LGMD type 2D
LGMD2D
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2D
gene_symbol: GNE
disease_id: ORPHA:602
disease_name: GNE myopathy
DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy
gene_symbol: FBN1
disease_id: OMIM:184900
disease_name: STIFF SKIN SYNDROME
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
Phenotype: Delayed ability to crawl (HP:0033128)
Associated genes and diseases:
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: MDH2
disease_id: OMIM:617339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
gene_symbol: MRPS25
disease_id: OMIM:619025
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
gene_symbol: CTNNB1
disease_id: OMIM:615075
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: CELF2
disease_id: OMIM:619561
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97
Phenotype: Renal cortical hyperechogenicity (HP:0033132)
Associated genes and diseases:
gene_symbol: DLG5
disease_id: OMIM:620703
disease_name: YUKSEL-VOGEL-BAUER SYNDROME
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
gene_symbol: DAAM2
disease_id: OMIM:619263
disease_name: NEPHROTIC SYNDROME, TYPE 24
gene_symbol: MYH11
disease_id: OMIM:619351
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2
Phenotype: Abdominal adhesions (HP:0033134)
Associated genes and diseases:
gene_symbol: GTF2H5
disease_id: OMIM:616395
disease_name: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE