TaoMedAI/RareMedData huggingface dataset:
ORPHA:36258: Thromboangiitis obliterans
ORPHA:36273: Gastric linitis plastica
ORPHA:36273: Borrmann gastric cancer type 4
ORPHA:36273: Linitis plastica of the stomach
ORPHA:363189: Congenital anomaly of the great veins
ORPHA:363203: Ring chromosome syndrome
ORPHA:363245: Genetic progeroid syndrome
ORPHA:363250: Ciliopathy
ORPHA:363294: Genetic syndromic Pierre Robin syndrome
ORPHA:363300: Genetic intractable diarrhea of infancy
ORPHA:363306: Genetic intestinal disease due to fat malabsorption
ORPHA:363314: Genetic intestinal polyposis
ORPHA:363314: Familial intestinal polyposis
ORPHA:363396: High myopia-sensorineural deafness syndrome
ORPHA:363396: High myopia-sensorineural hearing loss syndrome
ORPHA:363400: Severe neurodegenerative syndrome with lipodystrophy
ORPHA:363400: Severe neurodegenerative syndrome due to BSCL2 deficiency
ORPHA:363409: Fetal akinesia-cerebral and retinal hemorrhage syndrome
ORPHA:363409: LCCS5
ORPHA:363409: Lethal congenital contracture syndrome type 5
ORPHA:363412: Hypomyelination with brain stem and spinal cord involvement and leg spasticity
ORPHA:363412: HBSL
ORPHA:363417: Temtamy preaxial brachydactyly syndrome
ORPHA:363424: Multiple mitochondrial dysfunctions syndrome type 3
ORPHA:363424: IBA57 deficiency
ORPHA:363424: MMDS3
ORPHA:363429: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
ORPHA:363432: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
ORPHA:363432: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
ORPHA:363432: SCAR18
ORPHA:363444: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ORPHA:363444: BBIS
ORPHA:363444: Beaulieu-Boycott-Innes syndrome
ORPHA:363447: Autosomal dominant childhood-onset proximal spinal muscular atrophy
ORPHA:363447: Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
ORPHA:363447: SMALED
ORPHA:363454: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
ORPHA:363454: BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
ORPHA:363454: SMALED2
ORPHA:363472: Tumor of testis and paratestis
ORPHA:363472: Testicular and paratesticular tumor
ORPHA:363478: Paratesticular adenocarcinoma
ORPHA:363478: Adenocarcinoma of the paratestis
ORPHA:363483: Testicular teratoma
ORPHA:363483: Teratoma of the testis
ORPHA:363489: Sex cord-stromal tumor of testis
ORPHA:363489: Testicular sex cord-stromal tumor
ORPHA:363494: Non-seminomatous germ cell tumor of testis
ORPHA:363494: Non-dysgerminomatous germ cell tumor of testis
ORPHA:363494: Testicular non seminomatous germ cell tumor
ORPHA:363494: Testicular non-dysgerminomatous germ cell tumor
ORPHA:363504: Germ cell tumor of testis
ORPHA:363504: Testicular germ cell tumor
ORPHA:363523: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
ORPHA:363523: Shaheen syndrome
ORPHA:363528: Intellectual disability-strabismus syndrome
ORPHA:363534: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
ORPHA:363534: mtDNA depletion syndrome, hepatocerebrorenal form
ORPHA:363540: Leukoencephalopathy with mild cerebellar ataxia and white matter edema
ORPHA:363549: Acute encephalopathy with biphasic seizures and late reduced diffusion
ORPHA:363549: AESD
ORPHA:363549: AIEF
ORPHA:363549: Acute infantile encephalopathy predominantly affecting the frontal lobes
ORPHA:36355: Bleeding disorder due to P2Y12 defect
ORPHA:36355: Bleeding disorder due to ADP platelet receptor P2Y12 defect
ORPHA:363558: New-onset refractory status epilepticus
ORPHA:363558: NORSE
ORPHA:363567: Acute encephalopathy with inflammation-mediated status epilepticus
ORPHA:363579: Extragonadal germ cell tumor
ORPHA:363582: Gonadal germ cell tumor
ORPHA:363611: CTCF-related neurodevelopmental disorder
ORPHA:363618: LMNA-related cardiocutaneous progeria syndrome
ORPHA:363618: LCPS
ORPHA:363623: GMPPB-related limb-girdle muscular dystrophy R19
ORPHA:363623: Autosomal recessive limb-girdle muscular dystrophy type 2T
ORPHA:363623: GMPPB-related LGMD R19
ORPHA:363623: LGMD type 2T
ORPHA:363623: LGMD2T
ORPHA:363623: Limb-girdle muscular dystrophy type 2T
ORPHA:363649: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
ORPHA:363649: MDP syndrome
ORPHA:363649: MDPL syndrome
ORPHA:363649: Mandibular hypoplasia-hearing loss-progeroid syndrome
ORPHA:363654: X-linked parkinsonism-spasticity syndrome
ORPHA:363654: XPDS
ORPHA:363659: 20q11.2 microduplication syndrome
ORPHA:363659: Dup(20)(q11.2)
ORPHA:363665: Acroosteolysis-keloid-like lesions-premature aging syndrome
ORPHA:363665: Premature aging syndrome, Penttinen type
ORPHA:36367: Distal deletion 1q syndrome
ORPHA:36367: Distal monosomy 1q
ORPHA:36367: Monosomy 1qter
ORPHA:36367: Telomeric deletion 1q
ORPHA:363677: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
ORPHA:363680: 2p13.2 microdeletion syndrome
ORPHA:363680: Del(2)(p13.2)
ORPHA:363686: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
ORPHA:363694: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
ORPHA:363694: HUPRA syndrome
ORPHA:363700: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
ORPHA:363700: Von Recklinghausen disease due to NF1 mutation or intragenic deletion
ORPHA:363705: Craniofaciofrontodigital syndrome
ORPHA:363705: Cantu craniofaciofrontodigital syndrome
ORPHA:363710: Spinocerebellar ataxia type 37
ORPHA:363710: SCA37
ORPHA:363710: Spinocerebellar ataxia with altered vertical eye movements
ORPHA:363717: Alexander disease type I
ORPHA:363717: AxD type I
ORPHA:363722: Alexander disease type II
ORPHA:363722: AxD type II
ORPHA:363727: X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
ORPHA:363741: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
ORPHA:363746: Balint syndrome
ORPHA:363746: Balint-Holmes syndrome
ORPHA:363746: Optic ataxia-gaze apraxia-simultanagnosia syndrome
ORPHA:36383: COL4A1/2-related familial vascular leukoencephalopathy
ORPHA:36383: COL4A-related brain small vessel disease with hemorrhage
ORPHA:36383: COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
ORPHA:36386: Hereditary sensory and autonomic neuropathy type 1
ORPHA:36386: HSAN1
ORPHA:36386: Hereditary sensory and autonomic neuropathy type I
ORPHA:36387: Genetic epilepsy with febrile seizure plus
ORPHA:36387: GEFS+
ORPHA:36387: Generalized epilepsy with febrile seizures-plus
ORPHA:36388: Paraneoplastic neurologic syndrome
ORPHA:36388: PNS
ORPHA:363958: 17q21.31 microdeletion syndrome
ORPHA:363958: Del(17)(q21.31)
ORPHA:363958: Monosomy 17q21.31
ORPHA:363965: Koolen-De Vries syndrome due to a point mutation
ORPHA:363969: Autosomal recessive cerebral atrophy
ORPHA:36397: Adiposis dolorosa
ORPHA:36397: Adiposalgia
ORPHA:36397: Adipose tissue rheumatism
ORPHA:36397: Dercum disease
ORPHA:36397: Lipomatosis dolorosa
ORPHA:363972: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ORPHA:363972: CBL syndrome
ORPHA:363972: Noonan syndrome-like disorder with JMML
ORPHA:363976: Giant cell tumor of bone
ORPHA:363976: GCT of bone
ORPHA:363976: Osteoclastoma
ORPHA:363981: Charcot-Marie-Tooth disease type 4B3
ORPHA:363981: CMT4B3
ORPHA:363981: Charcot-Marie-Tooth disease with focally folded myelin
ORPHA:363989: Familial benign flecked retina
ORPHA:363992: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
ORPHA:363992: 15q26.3 microdeletion syndrome
ORPHA:363999: Non-immune hydrops fetalis
ORPHA:363999: NIHF
ORPHA:363999: Non-immune HF
ORPHA:363999: Non-immune fetal edema
ORPHA:363999: Non-immune fetal hydrops
ORPHA:364: Glycogen storage disease due to glucose-6-phosphatase deficiency
ORPHA:364: G6P deficiency
ORPHA:364: GSD due to G6P deficiency
ORPHA:364: GSD type 1
ORPHA:364: GSD type I
ORPHA:364: Glycogen storage disease due to G6P deficiency
ORPHA:364: Glycogen storage disease type 1
ORPHA:364: Glycogen storage disease type I
ORPHA:364: Glycogenosis type 1
ORPHA:364: Glycogenosis type I
ORPHA:364: Hepatorenal glycogenosis
ORPHA:364: Von Gierke disease
ORPHA:364013: Immune hydrops fetalis
ORPHA:364013: IHF
ORPHA:364013: Immune HF
ORPHA:364013: Immune fetal edema
ORPHA:364013: Immune fetal hydrops
ORPHA:364028: X-linked intellectual disability due to GRIA3 mutations
ORPHA:364033: Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
ORPHA:364033: Systemic EBV+ T-cell LPD of childhood
ORPHA:364033: Systemic EBV-positive T-cell lymphoproliferative disease of childhood
ORPHA:364039: Hydroa vacciniforme-like lymphoma
ORPHA:364039: Angiocentric cutaneous T-cell lymphoma of childhood
ORPHA:364039: HVLL
ORPHA:364039: Hydroa-like cutaneous T-cell lymphoma
ORPHA:364043: ALK-positive large B-cell lymphoma
ORPHA:364043: ALK+ LBCL
ORPHA:364043: ALK+ large B-cell lymphoma
ORPHA:364055: Severe early-childhood-onset retinal dystrophy
ORPHA:364055: EOSRD
ORPHA:364055: Early-onset severe retinal dystrophy
ORPHA:364055: SECORD
ORPHA:364063: Infantile epileptic-dyskinetic encephalopathy
ORPHA:36412: Hypocomplementemic urticarial vasculitis
ORPHA:36412: Anti-C1q vasculitis
ORPHA:36412: Mac Duffie hypocomplementemic urticarial vasculitis
ORPHA:36412: Mac Duffie syndrome
ORPHA:36412: McDuffie hypocomplementemic urticarial vasculitis
ORPHA:36412: McDuffie syndrome
ORPHA:364198: Bipartite talus
ORPHA:36426: Stevens-Johnson syndrome
ORPHA:36426: Dermatostomatitis, Stevens Johnson type
ORPHA:364526: Primary bone dysplasia
ORPHA:364526: Primary osteodysplasia
ORPHA:364526: Primary skeletal dysplasia
ORPHA:364531: Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
ORPHA:364531: Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
ORPHA:364531: Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
ORPHA:364536: Primary bone dysplasia with micromelia
ORPHA:364536: Primary osteodysplasia with micromelia
ORPHA:364536: Primary skeletal dysplasia with micromelia
ORPHA:364541: Otopalatodigital syndrome spectrum disorder
ORPHA:364541: OPD spectrum disorder
ORPHA:364541: OPSD
ORPHA:364559: Dysostosis
ORPHA:364568: Dysostosis with limb anomaly as a major feature
ORPHA:364571: Dysostosis with limb and face anomalies as a major feature
ORPHA:364574: Acrofacial dysostosis
ORPHA:364577: Intellectual disability-brachydactyly-Pierre Robin syndrome
ORPHA:364803: Rare bone disease related to a common gene or pathway defect
ORPHA:364820: TRPV4-related bone disorder
ORPHA:365: Glycogen storage disease due to acid maltase deficiency
ORPHA:365: Alpha-1,4-glucosidase acid deficiency
ORPHA:365: GSD due to acid maltase deficiency
ORPHA:365: GSD type 2
ORPHA:365: GSD type II
ORPHA:365: Glycogen storage disease type 2
ORPHA:365: Glycogen storage disease type II
ORPHA:365: Glycogenosis due to acid maltase deficiency
ORPHA:365: Glycogenosis type 2
ORPHA:365: Glycogenosis type II
ORPHA:365: Pompe disease
ORPHA:365563: Primary short bowel syndrome
ORPHA:366: Glycogen storage disease due to glycogen debranching enzyme deficiency
ORPHA:366: Amylo-1,6-glucosidase deficiency
ORPHA:366: Cori disease
ORPHA:366: Cori-Forbes disease
ORPHA:366: Forbes disease
ORPHA:366: GDE deficiency
ORPHA:366: GSD due to glycogen debranching enzyme deficiency
ORPHA:366: GSD type 3
ORPHA:366: GSDIII
ORPHA:366: Glycogen storage disease type 3
ORPHA:366: Glycogen storage disease type III
ORPHA:366: Glycogenosis due to glycogen debranching enzyme deficiency
ORPHA:366: Glycogenosis type 3
ORPHA:366: Glycogenosis type III
ORPHA:366: Limit dextrinosis
ORPHA:367: Glycogen storage disease due to glycogen branching enzyme deficiency
ORPHA:367: Amylopectinosis
ORPHA:367: Andersen disease
ORPHA:367: GSD due to glycogen branching enzyme deficiency
ORPHA:367: GSD type 4
ORPHA:367: GSD type IV
ORPHA:367: Glycogen storage disease type 4
ORPHA:367: Glycogen storage disease type IV
ORPHA:367: Glycogenosis due to glycogen branching enzyme deficiency
ORPHA:367: Glycogenosis type 4
ORPHA:367: Glycogenosis type IV
ORPHA:368: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
ORPHA:368: GSD due to muscle glycogen phosphorylase deficiency
ORPHA:368: GSD type 5
ORPHA:368: GSD type V
ORPHA:368: Glycogen storage disease type 5
ORPHA:368: Glycogen storage disease type V
ORPHA:368: Glycogenosis due to muscle glycogen phosphorylase deficiency
ORPHA:368: Glycogenosis type 5
ORPHA:368: Glycogenosis type V
ORPHA:368: McArdle disease
ORPHA:368: Myophosphorylase deficiency
ORPHA:36899: Myoclonus-dystonia syndrome
ORPHA:36899: Alcohol-responsive dystonia
ORPHA:36899: Hereditary essential myoclonus
ORPHA:36899: Myoclonic dystonia
ORPHA:369: Glycogen storage disease due to liver glycogen phosphorylase deficiency
ORPHA:369: GSD due to liver glycogen phosphorylase deficiency
ORPHA:369: GSD type 6
ORPHA:369: GSD type VI
ORPHA:369: Glycogen storage disease type 6
ORPHA:369: Glycogen storage disease type VI
ORPHA:369: Glycogenosis due to liver glycogen phosphorylase deficiency
ORPHA:369: Glycogenosis type 6
ORPHA:369: Glycogenosis type VI
ORPHA:369: Hepatic glycogen phosphorylase deficiency
ORPHA:369: Hepatic phosphorylase deficiency
ORPHA:369: Hers disease
ORPHA:369: Liver glycogen phosphorylase deficiency
ORPHA:36913: Autoimmune hypoparathyroidism
ORPHA:369837: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
ORPHA:369837: Congenital disorder of glycosylation due to PIGT deficiency
ORPHA:369837: MCAHS type 3
ORPHA:369837: Multiple congenital anomalies-hypotonia-seizures syndrome type 3
ORPHA:369837: PIGT-CDG
ORPHA:369840: TRAPPC11-related limb-girdle muscular dystrophy R18
ORPHA:369840: Autosomal recessive limb-girdle muscular dystrophy type 2S
ORPHA:369840: LGMD type 2S
ORPHA:369840: LGMD2S
ORPHA:369840: Limb-girdle muscular dystrophy type 2S
ORPHA:369840: TRAPPC11-related LGMD R18
ORPHA:369847: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
ORPHA:369852: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ORPHA:369852: Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
ORPHA:369852: VPS45 deficiency
ORPHA:369852: Vacuolar sorting protein 45 deficiency
ORPHA:369861: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
ORPHA:369861: SIFD syndrome
ORPHA:369867: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
ORPHA:369867: RI-CMT type C
ORPHA:369873: Obesity due to SIM1 deficiency
ORPHA:369881: 2p21 microdeletion syndrome without cystinuria
ORPHA:369881: Del(2)(p21) without cystinuria
ORPHA:369886: Homozygous 2p21 microdeletion syndrome
ORPHA:369886: 2p21 contiguous gene deletion syndrome
ORPHA:369891: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
ORPHA:369891: MED13L-related intellectual disability syndrome
ORPHA:369897: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
ORPHA:369897: mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
ORPHA:369913: Combined oxidative phosphorylation defect type 17
ORPHA:369913: COXPD17
ORPHA:369920: Pontocerebellar hypoplasia type 9
ORPHA:369920: PCH9
ORPHA:369929: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
ORPHA:369939: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
ORPHA:369939: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
ORPHA:369942: CADDS
ORPHA:369942: Contiguous ABCD1 DXS1357E deletion syndrome
ORPHA:369942: Zellweger-like contiguous gene deletion syndrome
ORPHA:369950: Intellectual disability-seizures-macrocephaly-obesity syndrome
ORPHA:369950: Der(8)t(8;12)
ORPHA:369955: Methylmalonic acidemia with homocystinuria, type cblJ
ORPHA:369955: CblJ defects
ORPHA:369955: Cobalamin J defect
ORPHA:369955: Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
ORPHA:369955: Methylmalonic aciduria with homocystinuria, type cblJ
ORPHA:369962: Methylmalonic acidemia with homocystinuria, type cblX
ORPHA:369962: Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
ORPHA:369962: Methylmalonic aciduria with homocystinuria, type cblX
ORPHA:369970: Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
ORPHA:369970: MMCAT syndrome
ORPHA:369979: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
ORPHA:369992: Severe dermatitis-multiple allergies-metabolic wasting syndrome
ORPHA:369992: Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome
ORPHA:369992: SAM syndrome
ORPHA:369999: Diffuse palmoplantar keratoderma with painful fissures
ORPHA:37: Acrodermatitis enteropathica
ORPHA:37: AEZ
ORPHA:37: Acrodermatitis enteropathica, zinc deficiency type
ORPHA:37: Inherited zinc deficiency
ORPHA:370: Glycogen storage disease due to phosphorylase kinase deficiency
ORPHA:370: GSD due to phosphorylase kinase deficiency
ORPHA:370: GSD type 9
ORPHA:370: GSD type IX
ORPHA:370: Glycogen storage disease due to PhK deficiency
ORPHA:370: Glycogen storage disease type 9
ORPHA:370: Glycogen storage disease type IX
ORPHA:370: Glycogenosis due to phosphorylase kinase deficiency
ORPHA:370: Glycogenosis type 9
ORPHA:370: Glycogenosis type IX
ORPHA:370: Gycogenosis due to PhK deficiency
ORPHA:370002: Focal palmoplantar keratoderma with joint keratoses
ORPHA:370010: Intellectual disability-facial dysmorphism-hand anomalies syndrome
ORPHA:370015: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
ORPHA:370015: SEMDIST
ORPHA:370015: Spondyloepimetaphyseal dysplasia with severe short stature
ORPHA:370022: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
ORPHA:370022: Poretti-Boltshauser syndrome
ORPHA:370026: Acute myeloid leukemia with t(8;16)(p11;p13) translocation
ORPHA:370026: AML with t(8;16)(p11;p13) translocation
ORPHA:370034: Familial syringomyelia
ORPHA:370039: Angora hair nevus
ORPHA:370039: Schauder syndrome
ORPHA:370046: Didymosis aplasticosebacea
ORPHA:370046: Aplasia cutis congenita-nevus sebaceus syndrome
ORPHA:370052: SCALP syndrome
ORPHA:370052: Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
ORPHA:370052: Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
ORPHA:370059: NEVADA syndrome
ORPHA:370059: Nevus epidermicus verrucosus with angiodysplasia and aneurysms
ORPHA:370068: Fetal anticonvulsant syndrome
ORPHA:370068: FACS
ORPHA:370068: Fetal AEDS
ORPHA:370068: Fetal antiepileptic drug syndrome
ORPHA:370076: Fetal carbamazepine syndrome
ORPHA:370079: Proximal 16p11.2 microduplication syndrome
ORPHA:370079: Proximal dup(16)(p11.2)
ORPHA:370079: Proximal trisomy 16p11.2
ORPHA:370088: Acute infantile liver failure-multisystemic involvement syndrome
ORPHA:370091: Oculocutaneous albinism type 5
ORPHA:370091: OCA5
ORPHA:370097: Oculocutaneous albinism type 6
ORPHA:370097: OCA6
ORPHA:370103: Primary dystonia, DYT17 type
ORPHA:370106: Rare disorder with dystonia and other neurologic or systemic manifestation
ORPHA:370109: Ataxia-telangiectasia variant
ORPHA:370109: v-AT
ORPHA:370127: Medich giant platelet syndrome
ORPHA:370127: Medich macrothrombocytopenia
ORPHA:370131: White platelet syndrome
ORPHA:370334: Extraskeletal Ewing sarcoma
ORPHA:370334: EOE
ORPHA:370334: Extraosseous Ewing sarcoma
ORPHA:370334: Extraosseous Ewing tumor
ORPHA:370334: Extraskeletal Ewing tumor
ORPHA:370348: Peripheral primitive neuroectodermal tumor
ORPHA:370348: PPNET
ORPHA:370348: Peripheral PNET
ORPHA:370348: Peripheral neuroepithelioma
ORPHA:370396: Small cell carcinoma of the ovary
ORPHA:370396: SCCO
ORPHA:370396: Small cell ovarian carcinoma
ORPHA:37042: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
ORPHA:37042: Autoimmune enteropathy type 1
ORPHA:37042: IPEX
ORPHA:370921: STT3A-CDG
ORPHA:370921: CDG syndrome type Iw
ORPHA:370921: CDG-Iw
ORPHA:370921: CDG1W
ORPHA:370921: Congenital disorder of glycosylation type 1w
ORPHA:370921: Congenital disorder of glycosylation type Iw
ORPHA:370924: STT3B-CDG
ORPHA:370924: CDG syndrome type Ix
ORPHA:370924: CDG-Ix
ORPHA:370924: CDG1X
ORPHA:370924: Carbohydrate deficient glycoprotein syndrome type Ix
ORPHA:370924: Congenital disorder of glycosylation type 1x
ORPHA:370924: Congenital disorder of glycosylation type Ix
ORPHA:370927: SSR4-CDG
ORPHA:370927: CDG syndrome type Iy
ORPHA:370927: CDG-Iy
ORPHA:370927: CDG1Y
ORPHA:370927: Carbohydrate deficient glycoprotein syndrome type Iy
ORPHA:370927: Congenital disorder of glycosylation type 1y
ORPHA:370927: Congenital disorder of glycosylation type Iy
ORPHA:370930: XYLT1-CDG
ORPHA:370933: GM3 synthase deficiency
ORPHA:370933: ST3GAL5-CDG
ORPHA:370943: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
ORPHA:370943: SLC35A3-CDG
ORPHA:370953: Congenital muscular dystrophy due to dystroglycanopathy
ORPHA:370953: CMD due to dystroglycanopathy
ORPHA:370959: Congenital muscular dystrophy with cerebellar involvement
ORPHA:370959: CMD with cerebellar involvement
ORPHA:370959: CMD-CRB
ORPHA:370968: Congenital muscular dystrophy with intellectual disability
ORPHA:370968: CMD with intellectual disability
ORPHA:370968: CMD-MR
ORPHA:370980: Congenital muscular dystrophy without intellectual disability
ORPHA:370980: CMD without intellectual disability
ORPHA:370980: CMD-no MR
ORPHA:370980: Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
ORPHA:370997: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
ORPHA:370997: MEB disease with bilateral multicystic leucodystrophy
ORPHA:371: Glycogen storage disease due to muscle phosphofructokinase deficiency
ORPHA:371: GSD due to muscle phosphofructokinase deficiency
ORPHA:371: GSD type 7
ORPHA:371: GSD type VII
ORPHA:371: Glycogen storage disease type 7
ORPHA:371: Glycogen storage disease type VII
ORPHA:371: Glycogenosis due to muscle phosphofructokinase deficiency
ORPHA:371: Glycogenosis type 7
ORPHA:371: Glycogenosis type VII
ORPHA:371: Tarui disease
ORPHA:371007: Congenital muscular dystrophy with hyperlaxity
ORPHA:371007: CMDH
ORPHA:371024: Qualitative or quantitative defects of alpha-dystroglycan
ORPHA:371024: Alpha-dystroglycanopathy
ORPHA:371024: Dystroglycanopathy
ORPHA:371040: Primary qualitative or quantitative defects of alpha-dystroglycan
ORPHA:371040: Primary alpha-dystroglycanopathy
ORPHA:371040: Primary dystroglycanopathy
ORPHA:371047: Congenital disorder of glycosylation with neurological involvement
ORPHA:371047: CDG with neurological involvement
ORPHA:371071: Congenital disorder of glycosylation with epilepsy as a major feature
ORPHA:371071: CDG with epilepsy as a major feature
ORPHA:371157: Congenital disorder of glycosylation with hepatic involvement
ORPHA:371157: CDG with hepatic involvement
ORPHA:371176: Congenital disorder of glycosylation with dilated cardiomyopathy
ORPHA:371176: CDG with dilated cardiomyopathy
ORPHA:371183: Congenital disorder of glycosylation with cardiac malformation as a major feature
ORPHA:371183: CDG with cardiac malformation as a major feature
ORPHA:371188: Congenital disorder of glycosylation with intestinal involvement
ORPHA:371188: CDG with intestinal involvement
ORPHA:371195: Congenital disorder of glycosylation-related bone disorder
ORPHA:371195: CDG-related bone disorder
ORPHA:371200: Congenital disorder of glycosylation with skin involvement
ORPHA:371200: CDG with skin involvement
ORPHA:371207: Congenital disorder of glycosylation with nephropathy as a major feature
ORPHA:371207: CDG with nephropathy as a major feature
ORPHA:371212: Congenital disorder of glycosylation with deafness as a major feature
ORPHA:371212: CDG with deafness as a major feature
ORPHA:371212: CDG with hearing loss as a major feature
ORPHA:371212: Congenital disorder of glycosylation with hearing loss as a major feature
ORPHA:371235: Congenital disorder of glycosylation with developmental anomaly
ORPHA:371235: CDG with developmental anomaly