TaoMedAI/RareMedData huggingface dataset:
ORPHA:247511: Autosomal dominant secondary erythrocytosis
ORPHA:247522: Primary ciliary dyskinesia-retinitis pigmentosa syndrome
ORPHA:247525: Citrullinemia type I
ORPHA:247525: ASS deficiency
ORPHA:247525: Argininosuccinate synthase deficiency
ORPHA:247525: Argininosuccinate synthetase deficiency
ORPHA:247525: Argininosuccinic acid synthase deficiency
ORPHA:247525: Argininosuccinic acid synthetase deficiency
ORPHA:247525: CTLN1
ORPHA:247525: Citrullinemia type 1
ORPHA:247525: Classic citrullinemia
ORPHA:247546: Acute neonatal citrullinemia type I
ORPHA:247546: Acute neonatal citrullinemia type 1
ORPHA:247546: Early-onset citrullinemia type 1
ORPHA:247546: Early-onset citrullinemia type I
ORPHA:247573: Late-onset citrullinemia type I
ORPHA:247573: Late-onset citrullinemia type 1
ORPHA:247582: Citrin deficiency
ORPHA:247585: Citrullinemia type II
ORPHA:247585: Adult-onset citrin deficiency
ORPHA:247585: Adult-onset citrullinemia type 2
ORPHA:247585: Adult-onset citrullinemia type II
ORPHA:247585: CTLN2
ORPHA:247585: Citrullinemia type 2
ORPHA:247598: Neonatal intrahepatic cholestasis due to citrin deficiency
ORPHA:247598: NICCD
ORPHA:247598: Neonatal intrahepatic cholestasis caused by citrin deficiency
ORPHA:2476: Dysraphism-cleft lip/palate-limb reduction defects syndrome
ORPHA:2476: Medeira-Dennis-Donnai syndrome
ORPHA:247604: Juvenile primary lateral sclerosis
ORPHA:247604: JPLS
ORPHA:247604: Juvenile PLS
ORPHA:247623: Perinatal lethal hypophosphatasia
ORPHA:247623: Perinatal lethal Rathbun disease
ORPHA:247623: Perinatal lethal phosphoethanolaminuria
ORPHA:247638: Prenatal benign hypophosphatasia
ORPHA:247638: Prenatal benign Rathbun disease
ORPHA:247638: Prenatal benign phosphoethanolaminuria
ORPHA:247651: Infantile hypophosphatasia
ORPHA:247651: Infantile Rathbun disease
ORPHA:247651: Infantile phosphoethanolaminuria
ORPHA:247667: Childhood-onset hypophosphatasia
ORPHA:247667: Childhood-onset Rathbun disease
ORPHA:247667: Childhood-onset phosphoethanolaminuria
ORPHA:247676: Adult hypophosphatasia
ORPHA:247676: Adult Rathbun disease
ORPHA:247676: Adult phosphoethanolaminuria
ORPHA:247685: Odontohypophosphatasia
ORPHA:247691: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ORPHA:247691: RVCL
ORPHA:247691: RVCL-S
ORPHA:247691: Retinal vasculopathy and cerebral leukoencephalopathy
ORPHA:247698: Multiple endocrine neoplasia type 2A
ORPHA:247698: MEN2A
ORPHA:247698: PTC syndrome
ORPHA:247698: Sipple syndrome
ORPHA:2477: Megalencephaly
ORPHA:2477: Macroencephaly
ORPHA:247709: Multiple endocrine neoplasia type 2B
ORPHA:247709: MEN2B
ORPHA:247709: Multiple endocrine neoplasia type 3
ORPHA:247709: Wagenmann-Froboese syndrome
ORPHA:247718: Inflammatory myopathy with abundant macrophages
ORPHA:247718: IMAM
ORPHA:247724: Idiopathic eosinophilic myositis
ORPHA:247724: Idiopathic eosinophilia-associated myopathy
ORPHA:247762: Lipoblastoma
ORPHA:247765: X-linked cerebellar ataxia
ORPHA:247768: Müllerian aplasia and hyperandrogenism
ORPHA:247768: Müllerian duct failure and hyperandrogenism
ORPHA:247768: WNT4 deficiency
ORPHA:247775: Mayer-Rokitansky-Küster-Hauser syndrome type 1
ORPHA:247775: Congenital absence of uterus and vagina
ORPHA:247775: MRKH syndrome type 1
ORPHA:247775: Rokitansky sequence
ORPHA:247790: FTH1-related iron overload
ORPHA:247790: FTH1-associated iron overload
ORPHA:247794: Juvenile cataract-microcornea-renal glucosuria syndrome
ORPHA:247794: Juvenile cataract-microcornea-renal glycosuria syndrome
ORPHA:247798: MUTYH-related attenuated familial adenomatous polyposis
ORPHA:247798: MUTYH-related AFAP
ORPHA:247798: MUTYH-related attenuated FAP
ORPHA:247798: MUTYH-related attenuated familial polyposis coli
ORPHA:2478: Megalencephalic leukoencephalopathy with subcortical cysts
ORPHA:2478: MLC
ORPHA:2478: Megalencephalic leukodystrophy
ORPHA:2478: Megalencephaly-cystic leukodystrophy syndrome
ORPHA:2478: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
ORPHA:2478: Van der Knaap syndrome
ORPHA:247806: APC-related attenuated familial adenomatous polyposis
ORPHA:247806: APC-related AFAP
ORPHA:247806: APC-related attenuated FAP
ORPHA:247806: APC-related attenuated familial polyposis coli
ORPHA:247815: Autosomal recessive ataxia due to PEX10 deficiency
ORPHA:247815: Mild peroxisomal disorder due to PEX10 deficiency
ORPHA:247820: Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
ORPHA:247827: Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
ORPHA:247834: Occult macular dystrophy
ORPHA:247834: OCMD
ORPHA:247834: OMD
ORPHA:247868: NLRP12-associated hereditary periodic fever syndrome
ORPHA:247868: FCAS2
ORPHA:247868: Familial cold autoinflammatory syndrome type 2
ORPHA:247868: NAPS12
ORPHA:2479: Megalocornea-intellectual disability syndrome
ORPHA:2479: MMR syndrome
ORPHA:2479: Neuhäuser syndrome
ORPHA:248: Autosomal recessive hypohidrotic ectodermal dysplasia
ORPHA:248: AR-HED
ORPHA:248: Autosomal recessive anhidrotic ectodermal dysplasia
ORPHA:248095: Primary hypertrophic osteoarthropathy
ORPHA:248095: Idiopathic hypertrophic osteoarthropathy
ORPHA:248095: PHO
ORPHA:2481: Neurocutaneous melanocytosis
ORPHA:2481: NCM
ORPHA:2481: Neurocutaneous melanosis
ORPHA:248111: Juvenile Huntington disease
ORPHA:248111: JHD
ORPHA:248111: Juvenile Huntington chorea
ORPHA:2482: Melhem-Fahl syndrome
ORPHA:248293: Rare deficiency anemia
ORPHA:248296: Constitutional deficiency anemia
ORPHA:2483: Melkersson-Rosenthal syndrome
ORPHA:248302: Rare acquired deficiency anemia
ORPHA:248308: Rare hemorrhagic disorder
ORPHA:248308: Rare bleeding disorder
ORPHA:248315: Rare hemorrhagic disorder due to a coagulation factors defect
ORPHA:248315: Rare bleeding disorder due to a coagulation factors defect
ORPHA:248315: Rare coagulopathy due to a coagulation factor defect
ORPHA:248326: Rare hemorrhagic disorder due to a platelet anomaly
ORPHA:248326: Rare bleeding disorder due to a platelet anomaly
ORPHA:248326: Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia
ORPHA:248326: Rare coagulopathy due to a platelet anomaly
ORPHA:248326: Rare coagulopathy due to a thrombopathy and/or thrombocytopenia
ORPHA:248326: Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia
ORPHA:248340: Isolated delta-storage pool disease
ORPHA:248340: Isolated delta-SPD
ORPHA:248340: Isolated dense-SPD
ORPHA:248340: Isolated dense-storage pool disease
ORPHA:248347: Rare hemorrhagic disorder due to an acquired platelet anomaly
ORPHA:248347: Rare bleeding disorder due to an acquired platelet anomaly
ORPHA:248347: Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia
ORPHA:248347: Rare coagulopathy due to an acquired platelet anomaly
ORPHA:248347: Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia
ORPHA:248347: Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia
ORPHA:248358: Rare thrombotic disorder due to a coagulation factors defect
ORPHA:248361: Rare thrombotic disorder due to a constitutional coagulation factors defect
ORPHA:248365: Rare thrombotic disorder due to an acquired coagulation factors defect
ORPHA:248368: Rare thrombotic disorder due to a platelet anomaly
ORPHA:2484: Melnick-Needles syndrome
ORPHA:2484: Melnick-Needles osteodysplasty
ORPHA:248401: Rare thrombotic disorder due to a constitutional platelet anomaly
ORPHA:248404: Rare thrombotic disorder due to an acquired platelet anomaly
ORPHA:248408: Familial hypodysfibrinogenemia
ORPHA:2485: Melorheostosis
ORPHA:2487: Lower limb malformation-hypospadias syndrome
ORPHA:2487: Fried-Goldberg-Mundel syndrome
ORPHA:2489: Upper limb defect-eye and ear abnormalities syndrome
ORPHA:249: Fibrous dysplasia of bone
ORPHA:2491: Müllerian duct anomalies-limb anomalies syndrome
ORPHA:2492: FATCO syndrome
ORPHA:2492: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
ORPHA:2492: Hecht-Scott syndrome
ORPHA:2494: Ménétrier disease
ORPHA:2494: Giant hypertrophic gastritis
ORPHA:2494: Hypoproteinemic hypertrophic gastropathy
ORPHA:2495: Meningioma
ORPHA:2496: Mesomelia-synostoses syndrome
ORPHA:2496: 8q13 microdeletion syndrome
ORPHA:2496: Del(8)q(13)
ORPHA:2496: Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
ORPHA:2496: Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
ORPHA:2496: Monosomy 8q13
ORPHA:2496: Verloes-David syndrome
ORPHA:2497: Upper limb mesomelic dysplasia, type Fryns
ORPHA:2497: Fryns-Hofkens-Fabry syndrome
ORPHA:2497: Ulna hypoplasia
ORPHA:2498: Syndactyly type 8
ORPHA:2498: Fusion of metacarpals 4 and 5
ORPHA:2499: Metachondromatosis
ORPHA:25: Glutaryl-CoA dehydrogenase deficiency
ORPHA:25: GA1
ORPHA:25: GCDHD
ORPHA:25: Glutaric acidemia type 1
ORPHA:25: Glutaric aciduria type 1
ORPHA:25: Glutaryl-coenzyme A dehydrogenase deficiency
ORPHA:250: Frontonasal dysplasia
ORPHA:250: Median cleft face syndrome
ORPHA:2500: Acrogeria
ORPHA:2500: Acrogeria, Gottron type
ORPHA:2500: Acrometageria
ORPHA:2500: Gottron syndrome
ORPHA:2501: Metaphyseal chondrodysplasia, Spahr type
ORPHA:250165: Genetic polycythemia
ORPHA:2502: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
ORPHA:2502: Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome
ORPHA:2504: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
ORPHA:2505: Multiple benign circumferential skin creases on limbs
ORPHA:2505: CCSF
ORPHA:2505: Circumferential skin creases, Kunze type
ORPHA:2505: Congenital circumferential skin folds
ORPHA:2505: Kunze-Riehm syndrome
ORPHA:2508: Corpus callosum agenesis-abnormal genitalia syndrome
ORPHA:2508: ACC-abnormal genitalia syndrome
ORPHA:2508: Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
ORPHA:2508: Proud syndrome
ORPHA:2508: Proud-Levine-Carpenter syndrome
ORPHA:250805: Serpinopathy
ORPHA:250808: Serpinopathy with toxic serpin polymerization
ORPHA:250811: Serpinopathy with loss of serpin function
ORPHA:250831: Logopenic progressive aphasia
ORPHA:250831: LPA
ORPHA:250831: Logopenic primary progressive aphasia
ORPHA:250831: Logopenic variant PPA
ORPHA:250908: Rare neoplastic disease
ORPHA:250908: Rare tumoral disease
ORPHA:250923: Isolated aniridia
ORPHA:250932: Autosomal dominant optic atrophy and peripheral neuropathy
ORPHA:250972: Polymicrogyria with optic nerve hypoplasia
ORPHA:250977: AICA-ribosiduria
ORPHA:250977: 5-amino-4-imidazole carboxamide ribosiduria
ORPHA:250977: AICA-ribosiduria due to ATIC deficiency
ORPHA:250977: AICAR transformylase/IMP cyclohydrolase deficiency
ORPHA:250977: ATIC deficiency
ORPHA:250984: Autosomal recessive Stickler syndrome
ORPHA:250989: 1q21.1 microdeletion syndrome
ORPHA:250989: Del(1)(q21)
ORPHA:250989: Monosomy 1q21.1
ORPHA:250994: 1q21.1 microduplication syndrome
ORPHA:250994: Dup(1)(q21.1)
ORPHA:250994: Trisomy 1q21.1
ORPHA:250999: 1q41q42 microdeletion syndrome
ORPHA:250999: Del(1)(q41q42)
ORPHA:250999: Monosomy 1q41q42
ORPHA:251: Multiple epiphyseal dysplasia
ORPHA:251: EDM
ORPHA:251: MED
ORPHA:251: Polyepiphyseal dysplasia
ORPHA:2510: Micro syndrome
ORPHA:2510: WARBM
ORPHA:2510: Warburg micro syndrome
ORPHA:251004: Paternal uniparental disomy of chromosome 1 syndrome
ORPHA:251004: UPD(1)pat
ORPHA:251009: Maternal uniparental disomy of chromosome 1 syndrome
ORPHA:251009: UPD(1)mat
ORPHA:251014: 2q31.1 microdeletion syndrome
ORPHA:251014: Del(2)(q31.1)
ORPHA:251014: Monosomy 2q31.1
ORPHA:251019: 2q32q33 microdeletion syndrome
ORPHA:251019: Del(2)(q32)
ORPHA:251019: Del(2)(q32q33)
ORPHA:251019: Monosomy 2q32
ORPHA:251019: Monosomy 2q32q33
ORPHA:251028: SATB2-associated syndrome due to a chromosomal rearrangement
ORPHA:251028: 2q33.1 microdeletion syndrome
ORPHA:251028: Del(2)(q33.1)
ORPHA:251028: Monosomy 2q33.1
ORPHA:251038: 3q29 microduplication syndrome
ORPHA:251038: Trisomy 3q29
ORPHA:251043: Ring chromosome 5 syndrome
ORPHA:251043: Ring 5
ORPHA:251043: Ring chromosome 5
ORPHA:251046: 6p22 microdeletion syndrome
ORPHA:251046: Del(6)(p22)
ORPHA:251046: Monosomy 6p22
ORPHA:251056: 6q25.2q25.3 microdeletion syndrome
ORPHA:251056: Del(6)(q25)
ORPHA:251056: Monosomy 6q25
ORPHA:251061: 7q31 microdeletion syndrome
ORPHA:251061: Del(7)(q31)
ORPHA:251061: Monosomy 7q31
ORPHA:251066: 8p11.2 deletion syndrome
ORPHA:251066: Del(8)(p11.2)
ORPHA:251066: Monosomy 8p11.2
ORPHA:251071: 8p23.1 microdeletion syndrome
ORPHA:251071: Del(8)(p23.1)
ORPHA:251071: Monosomy 8p23.1
ORPHA:251076: 8p23.1 duplication syndrome
ORPHA:251076: Dup(8)(p23.1p23.1)
ORPHA:251076: Trisomy 8p23.1
ORPHA:2511: Microbrachycephaly-ptosis-cleft lip syndrome
ORPHA:2511: Richieri Costa-Guion Almeida-Ramos syndrome
ORPHA:2512: Autosomal recessive primary microcephaly
ORPHA:2512: MCPH
ORPHA:2512: Microcephalia vera
ORPHA:2512: Microcephaly vera
ORPHA:2512: True microcephaly
ORPHA:251262: Familial osteochondritis dissecans
ORPHA:251262: Osteochondritis dissecans and short stature
ORPHA:251274: Familial hyperaldosteronism type III
ORPHA:251274: FH-III
ORPHA:251274: FH3
ORPHA:251274: Familial hyperaldosteronism type 3
ORPHA:251279: Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
ORPHA:251279: Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
ORPHA:251282: Autosomal dominant spastic ataxia type 1
ORPHA:251282: SPAX1
ORPHA:251287: Benign concentric annular macular dystrophy
ORPHA:251290: Parietal foramina with clavicular hypoplasia
ORPHA:251290: Parietal foramina with cleidocranial dysplasia
ORPHA:251295: Pigmented paravenous retinochoroidal atrophy
ORPHA:251295: PPRCA
ORPHA:2513: Microcephaly-albinism-digital anomalies syndrome
ORPHA:2513: Castro Gago-Pombo-Novo syndrome
ORPHA:251304: Infantile onset panniculitis with uveitis and systemic granulomatosis
ORPHA:251307: Idiopathic recurrent pericarditis
ORPHA:251307: Idiopathic relapsing pericarditis
ORPHA:251312: Overlapping connective tissue disease
ORPHA:251325: Drug-induced vasculitis
ORPHA:251328: Unclassified vasculitis
ORPHA:251332: Unexplained long-lasting fever/inflammatory syndrome
ORPHA:251332: Persistent fever/inflammation of unknown origin
ORPHA:251347: Ataxia-telangiectasia-like disorder
ORPHA:251347: ATLD
ORPHA:251355: Sickle cell disease associated with another hemoglobin anomaly
ORPHA:251355: Double heterozygotes sickling disorder
ORPHA:251359: Sickle cell-beta-thalassemia disease syndrome
ORPHA:251359: HbS-beta-thalassemia syndrome
ORPHA:251365: Sickle cell-hemoglobin C disease syndrome
ORPHA:251365: HbSC disease
ORPHA:251370: Sickle cell-hemoglobin D disease syndrome
ORPHA:251370: HbSD disease
ORPHA:251375: Sickle cell-hemoglobin E disease syndrome
ORPHA:251375: HbSE disease
ORPHA:251380: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
ORPHA:251380: HPFH-sickle cell disease syndrome
ORPHA:251383: CK syndrome
ORPHA:251383: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
ORPHA:251393: Localized junctional epidermolysis bullosa
ORPHA:251393: JEB-nH loc
ORPHA:251393: Junctional epidermolysis bullosa, non-Herlitz localized type
ORPHA:251393: Localized JEB
ORPHA:2514: Autosomal dominant primary microcephaly
ORPHA:2515: Microcephaly-cardiomyopathy syndrome
ORPHA:2515: Winship-Viljoen-Leary syndrome
ORPHA:251510: 46,XY partial gonadal dysgenesis
ORPHA:251510: 46,XY PGD
ORPHA:251510: 46,XY partial testicular dysgenesis
ORPHA:251515: Distal arthrogryposis type 10
ORPHA:251515: DA10
ORPHA:251515: Plantar flexion contracture
ORPHA:251515: Short Achilles tendon
ORPHA:251515: Short tendo calcaneus
ORPHA:251523: Hyperzincemia and hypercalprotectinemia
ORPHA:251523: Hz/Hc
ORPHA:251523: PAMI syndrome
ORPHA:251523: PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
ORPHA:251529: Toxic or drug-related embryofetopathy
ORPHA:251535: Maternal disease-related embryofetopathy
ORPHA:251558: Rare tumor of neuroepithelial tissue
ORPHA:251561: High-grade astrocytoma
ORPHA:251576: Gliosarcoma
ORPHA:251579: Giant cell glioblastoma
ORPHA:251582: Gliomatosis cerebri
ORPHA:251589: Anaplastic astrocytoma
ORPHA:251592: Low-grade astrocytoma
ORPHA:251595: Diffuse astrocytoma
ORPHA:251598: Protoplasmic astrocytoma
ORPHA:2516: Microcephaly-cardiac defect-lung malsegmentation syndrome
ORPHA:2516: Ellis-Yale-Winter syndrome
ORPHA:251601: Fibrillary astrocytoma
ORPHA:251604: Gemistocytic astrocytoma
ORPHA:251607: Pleomorphic xanthoastrocytoma
ORPHA:251607: PXA
ORPHA:251612: Pilocytic astrocytoma
ORPHA:251615: Pilomyxoid astrocytoma
ORPHA:251618: Subependymal giant cell astrocytoma
ORPHA:251618: SEGA
ORPHA:251623: Pituicytoma
ORPHA:251627: Oligodendroglioma
ORPHA:251630: Anaplastic oligodendroglioma
ORPHA:251636: Ependymoma
ORPHA:251636: Classic ependymoma
ORPHA:251639: Subependymoma
ORPHA:251643: Myxopapillary ependymoma
ORPHA:251646: Anaplastic ependymoma
ORPHA:251651: Oligoastrocytic tumor
ORPHA:251651: Mixed oligodendroglial and astrocytic tumor
ORPHA:251656: Oligoastrocytoma
ORPHA:251656: MOA
ORPHA:251656: Mixed oligoastrocytoma
ORPHA:251663: Anaplastic oligoastrocytoma
ORPHA:251663: aMOA
ORPHA:251668: Glial tumor of neuroepithelial tissue with unknown origin
ORPHA:251671: Angiocentric glioma
ORPHA:251674: Chordoid glioma
ORPHA:251679: Astroblastoma
ORPHA:2518: Autosomal recessive chorioretinopathy-microcephaly syndrome
ORPHA:2518: Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
ORPHA:251852: Embryonal tumor of neuroepithelial tissue
ORPHA:251855: Anaplastic/large cell medulloblastoma
ORPHA:251858: Medulloblastoma with extensive nodularity
ORPHA:251858: MBEN
ORPHA:251863: Desmoplastic/nodular medulloblastoma
ORPHA:251867: Classic medulloblastoma
ORPHA:251870: Central nervous system embryonal tumor
ORPHA:251870: CNS PNET
ORPHA:251870: Central nervous system primitive neuroectodermal tumor
ORPHA:251877: Ganglioneuroblastoma
ORPHA:251896: Choroid plexus tumor
ORPHA:251899: Choroid plexus carcinoma
ORPHA:2519: Microcephaly-seizures-intellectual disability-heart disease syndrome
ORPHA:251902: Atypical papilloma of choroid plexus
ORPHA:251902: Atypical CPP
ORPHA:251902: Atypical choroid plexus papilloma
ORPHA:251905: Pineal tumor of neuroepithelial tissue
ORPHA:251909: Pineoblastoma
ORPHA:251912: Pineocytoma
ORPHA:251915: Papillary tumor of the pineal region
ORPHA:251915: PTPR
ORPHA:251919: Pineal parenchymal tumor of intermediate differentiation
ORPHA:251924: Neuronal tumor
ORPHA:251927: Extraventricular neurocytoma
ORPHA:251927: EVN
ORPHA:251931: Cerebellar liponeurocytoma
ORPHA:251934: Mixed neuronal-glial tumor
ORPHA:251937: Gangliocytoma
ORPHA:251940: Desmoplastic infantile astrocytoma/ganglioglioma
ORPHA:251940: DIA/DIG
ORPHA:251946: Dysembryoplastic neuroepithelial tumor
ORPHA:251946: DNET
ORPHA:251949: Ganglioglioma
ORPHA:251957: Anaplastic ganglioglioma
ORPHA:251962: Papillary glioneuronal tumor
ORPHA:251962: PGNT
ORPHA:251962: Pseudopapillary ganglioglioneurocytoma
ORPHA:251962: Pseudopapillary neurocytoma with glial differentiation
ORPHA:251975: Rosette-forming glioneuronal tumor
ORPHA:251975: RGNT
ORPHA:251992: Ganglioneuroma
ORPHA:251995: Primary germ cell tumor of central nervous system
ORPHA:251995: Primary germ cell tumor of CNS
ORPHA:252006: Yolk sac tumor of central nervous system
ORPHA:252006: Endodermal sinus tumor of CNS
ORPHA:252006: Endodermal sinus tumor of central nervous system
ORPHA:252006: Intracranial endodermal sinus tumor
ORPHA:252006: Intracranial yolk sac tumor
ORPHA:252006: Yolk sac tumor of CNS
ORPHA:252015: Choriocarcinoma of the central nervous system
ORPHA:252018: Teratoma of the central nervous system
ORPHA:252021: Mixed germ cell tumor of central nervous system
ORPHA:252021: Mixed germ cell tumor of CNS
ORPHA:252025: Tumor of meninges
ORPHA:252028: Primary melanocytic tumor of central nervous system
ORPHA:252028: Primary melanocytic lesion of CNS
ORPHA:252028: Primary melanocytic lesion of central nervous system
ORPHA:252028: Primary melanocytic tumor of CNS
ORPHA:252031: Diffuse leptomeningeal melanocytosis
ORPHA:252031: DLM
ORPHA:252031: Leptomeningeal melanomatosis
ORPHA:252046: Meningeal melanocytoma
ORPHA:252050: Primary melanoma of the central nervous system
ORPHA:252050: Malignant melanoma of meninges
ORPHA:252050: Primary melanoma of the CNS
ORPHA:252054: Hemangioblastoma
ORPHA:252057: Tumor of cranial and spinal nerves
ORPHA:252057: Rare tumor of cranial and spinal nerves
ORPHA:2521: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
ORPHA:252128: Malignant peripheral nerve sheath tumor with perineurial differentiation
ORPHA:252128: Malignant perineurioma
ORPHA:252131: Benign peripheral nerve sheath tumor
ORPHA:252131: BPNST
ORPHA:252164: Benign schwannoma
ORPHA:252164: Neurilemmoma
ORPHA:252164: Neurilemoma
ORPHA:252164: Peripheral fibroblastoma
ORPHA:252175: Vestibular schwannoma
ORPHA:252175: Acoustic neurilemoma
ORPHA:252175: Acoustic neurinoma
ORPHA:252175: Acoustic neuroma
ORPHA:252183: Neurofibroma
ORPHA:252190: Inherited nervous system cancer-predisposing syndrome
ORPHA:2522: Microcephaly-cervical spine fusion anomalies syndrome
ORPHA:252202: Constitutional mismatch repair deficiency syndrome
ORPHA:252202: CMMR-D syndrome
ORPHA:252206: Melanoma and neural system tumor syndrome
ORPHA:252206: Melanoma-astrocytoma syndrome
ORPHA:252212: Malignant triton tumor
ORPHA:252212: MPNST with rhabdomyosarcomatous differentiation
ORPHA:252212: MTT
ORPHA:252212: Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation
ORPHA:2523: Microcephaly-brain defect-spasticity-hypernatremia syndrome
ORPHA:2523: Franek-Bocker-Kahlen syndrome
ORPHA:2524: Pontocerebellar hypoplasia type 2
ORPHA:2524: PCH2
ORPHA:2526: Microcephaly-lymphedema-chorioretinopathy syndrome
ORPHA:2526: MLCRD
ORPHA:2528: Microcephaly-microcornea syndrome, Seemanova type
ORPHA:2528: Seemanova-Lesny syndrome
ORPHA:253: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
ORPHA:253: SED and SEMD
ORPHA:2533: Microcephaly-deafness-intellectual disability syndrome
ORPHA:2533: Kawashima-Tsuji syndrome
ORPHA:2533: Microcephaly-hearing loss-intellectual disability syndrome
ORPHA:2536: Microcornea-glaucoma-absent frontal sinuses syndrome
ORPHA:2538: Microgastria-limb reduction defect syndrome
ORPHA:254: Spondylometaphyseal dysplasia
ORPHA:2542: Isolated microphthalmia-anophthalmia-coloboma
ORPHA:2542: Isolated anophthalmia-microphthalmia syndrome
ORPHA:254334: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
ORPHA:254334: RI-CMT type B
ORPHA:254343: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
ORPHA:254343: Autosomal recessive spastic ataxia type 4
ORPHA:254343: SPAX4
ORPHA:254346: 19p13.12 microdeletion syndrome
ORPHA:254346: Del(19)(p13.12)
ORPHA:254346: Monosomy 19p13.12
ORPHA:254351: Distal 7q11.23 microdeletion syndrome
ORPHA:254351: Distal del(7)(q11.23)
ORPHA:254351: Distal monosomy 7q11.23
ORPHA:254361: Plectin-related limb-girdle muscular dystrophy R17
ORPHA:254361: Autosomal recessive limb-girdle muscular dystrophy type 2Q
ORPHA:254361: LGMD type 2Q
ORPHA:254361: LGMD2Q
ORPHA:254361: Limb-girdle muscular dystrophy type 2Q
ORPHA:254361: Plectin-related LGMD R17
ORPHA:254367: Rare lichen planus
ORPHA:254367: Rare LP
ORPHA:254370: Rare cutaneous lichen planus
ORPHA:254370: Rare cutaneous LP
ORPHA:254373: Rare mucosal lichen planus
ORPHA:254373: Rare mucosal LP
ORPHA:254379: Linear lichen planus
ORPHA:254379: Blaschkoid LP
ORPHA:254379: Blaschkoid lichen planus
ORPHA:254379: Linear LP
ORPHA:254395: Actinic lichen planus
ORPHA:254395: Actinic LP
ORPHA:254395: Lichen planus actinus
ORPHA:254395: Lichen planus subtropicus
ORPHA:254395: Lichen planus tropicus
ORPHA:254395: Lichenoid melanodermatitis
ORPHA:254395: Summertime actinic lichenoid eruption
ORPHA:254411: Annular atrophic lichen planus
ORPHA:254411: Annular atrophic LP
ORPHA:254424: Annular lichen planus
ORPHA:254424: Annular LP
ORPHA:254449: Atrophic lichen planus
ORPHA:254449: Atrophic LP
ORPHA:254463: Lichen planus pigmentosus
ORPHA:254463: LP pigmentosa
ORPHA:254463: LP pigmentosus
ORPHA:254463: Lichen planus pigmentosa
ORPHA:254463: Lichen planus pigmentosus inversus
ORPHA:254478: Lichen planus pemphigoides
ORPHA:254478: LP pemphigoides
ORPHA:254492: Frontal fibrosing alopecia
ORPHA:254492: FFA
ORPHA:254504: Inhalational botulism
ORPHA:254504: Inhalation botulism
ORPHA:254509: Iatrogenic botulism
ORPHA:254509: Inadvertent botulism
ORPHA:254516: Temple syndrome