TaoMedAI/RareMedData huggingface dataset:
ORPHA:656300: Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency
ORPHA:656313: Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
ORPHA:656313: AD CID due to  partial GP130 deficiency
ORPHA:656313: AD CID due to  partial IL6ST deficiency
ORPHA:656313: Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency
ORPHA:656313: Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency
ORPHA:656326: Autosomal recessive combined immunodeficiency due to IL6R deficiency
ORPHA:656326: AR CID due to IL6R deficiency
ORPHA:656326: Autosomal recessive combined immunodeficiency due to  IL6 receptor protein deficiency
ORPHA:656417: Embryonal tumor with multilayered rosettes
ORPHA:656417: ETMR
ORPHA:65681: Vaginal atresia
ORPHA:65682: Benign recurrent intrahepatic cholestasis
ORPHA:65682: BRIC
ORPHA:65682: Summerskill-Walshe-Tygstrup syndrome
ORPHA:65683: Isolated focal cortical dysplasia
ORPHA:65683: Epilepsy due to FCD
ORPHA:65684: Monomelic amyotrophy
ORPHA:65684: Benign focal amyotrophy
ORPHA:65684: Hirayama disease
ORPHA:65684: JMADUE
ORPHA:65684: Juvenile muscular atrophy of distal upper extremity
ORPHA:65684: Juvenile muscular atrophy of the distal upper limb
ORPHA:656912: Autosomal dominant combined immunodeficiency due to ERBIN deficiency
ORPHA:656912: AD-CID due to ERBIN deficiency
ORPHA:656912: Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency
ORPHA:657: Congenital isolated hyperinsulinism
ORPHA:657: PHHI
ORPHA:657: Persistent hyperinsulinemic hypoglycemia of infancy
ORPHA:65720: Arthrogryposis-severe scoliosis syndrome
ORPHA:65720: Distal arthrogryposis type 4
ORPHA:65720: Distal arthrogryposis type IID
ORPHA:65743: Autosomal dominant multiple pterygium syndrome
ORPHA:65743: Distal arthrogryposis type 8
ORPHA:65748: Multiple self-healing squamous epithelioma
ORPHA:65748: Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type
ORPHA:65748: Ferguson-Smith disease
ORPHA:65748: MSSE
ORPHA:65748: Multiple keratoacanthoma, Ferguson-Smith type
ORPHA:65748: Self-healing squamous epithelioma type 1
ORPHA:65753: Charcot-Marie-Tooth disease type 1
ORPHA:65753: Autosomal dominant demyelinating Charcot-Marie-Tooth disease
ORPHA:65753: CMT1
ORPHA:65753: Charcot-Marie-Tooth neuropathy type 1
ORPHA:65753: Hereditary motor and sensory neuropathy type 1
ORPHA:65759: Carpenter syndrome
ORPHA:65759: ACPS2
ORPHA:65759: Acrocephalopolysyndactyly type 2
ORPHA:658: Non-histaminic angioedema
ORPHA:658: Angioneurotic edema
ORPHA:658: Bradykinine-induced angioedema
ORPHA:658: Non histamine-induced angioedema
ORPHA:658540: 16q22 deletion syndrome
ORPHA:658549: Idiopathic small fibers neuropathy
ORPHA:658549: Idiopathic-SFN
ORPHA:658574: Isolated pulmonary artery sling
ORPHA:658574: Isolated anomalous left pulmonary artery
ORPHA:658574: Isolated left pulmonary artery sling
ORPHA:658574: LPA
ORPHA:658574: PAS
ORPHA:658584: Rowell syndrome
ORPHA:658590: Eyelid sebaceous carcinoma
ORPHA:658595: DNMT3A-related microcephalic dwarfism
ORPHA:658595: HESJAS
ORPHA:658595: Heyn-Sproul-Jackson syndrome
ORPHA:658595: Microcephaly-short stature-intellectual disability syndrome
ORPHA:658602: Transplant-related bronchiolitis obliterans
ORPHA:658602: BOS
ORPHA:658602: Bronchiolitis obliterans syndrome
ORPHA:658612: Non-transplant-related bronchiolitis obliterans
ORPHA:658778: COQ7-related distal hereditary motor neuropathy
ORPHA:658805: Greig cephalopolysyndactyly-contiguous gene syndrome
ORPHA:658805: GCP-CGS
ORPHA:658810: Atrophoderma of Pasini and Pierini
ORPHA:658813: Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
ORPHA:658813: CIMAH
ORPHA:658813: Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia
ORPHA:658813: Methylenetetrahydrofolate dehydrogenase 1 deficiency
ORPHA:658843: Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
ORPHA:658909: Fasciolopsiasis
ORPHA:658913: Paragonimiasis
ORPHA:658917: Clonorchiasis
ORPHA:658946: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
ORPHA:658946: Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency
ORPHA:658951: Early-onset immune dysregulation due to DOCK11 complete deficiency
ORPHA:658951: Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency
ORPHA:659: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
ORPHA:659: Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
ORPHA:659: Olmsted syndrome
ORPHA:659: Palmoplantar and periorificial keratoderma
ORPHA:659387: PRC-2 complex-related overgrowth spectrum
ORPHA:659396: Cohen-Gibson syndrome
ORPHA:659396: EED-related overgrowth syndrome
ORPHA:659463: Imagawa-Matsumoto syndrome
ORPHA:659463: SUZ12-related overgrowth syndrome
ORPHA:659609: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
ORPHA:659609: RAC3-related syndrome
ORPHA:659626: Single isolated optic neuritis
ORPHA:659626: Isolated single optic neuritis
ORPHA:659626: SION
ORPHA:659634: Relapsing isolated optic neuritis
ORPHA:659634: Isolated relapsing optic neuritis
ORPHA:659634: Isolated relapsing optic neuropathy
ORPHA:659634: RION
ORPHA:659642: Rauch-Steindl syndrome
ORPHA:659642: NSD2-related syndrome
ORPHA:659672: Harderoporphyria
ORPHA:659681: Erythropoietic porphyria
ORPHA:659681: EPP
ORPHA:659694: Hepatic porphyria
ORPHA:659698: Hepatic cutaneous porphyria
ORPHA:659702: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
ORPHA:659702: ARCN1-related syndrome
ORPHA:659707: Yersinia pseudotuberculosis infection
ORPHA:659707: Y. pseudotuberculosis infection
ORPHA:659712: Rare yersiniosis
ORPHA:659744: Ocular surface squamous neoplasia
ORPHA:659744: OSSN
ORPHA:659756: Oroya fever
ORPHA:659759: Verruga peruana
ORPHA:659759: Peruvian warts
ORPHA:659873: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
ORPHA:659873: LEMD2-associated nuclear envelopathy with early progeroid appearance
ORPHA:659873: Marbach-Rustad progeroid syndrome
ORPHA:659904: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
ORPHA:659904: PRR12-related neuroocular syndrome
ORPHA:659908: Glanders
ORPHA:659908: Burkholderia mallei infection
ORPHA:659908: Equinia
ORPHA:659908: Malleus
ORPHA:659975: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
ORPHA:659975: Neurodevelopmental disorder with hearing loss and spastic quadriplegia
ORPHA:659975: Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome
ORPHA:659975: Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome
ORPHA:660: Omphalocele
ORPHA:660012: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
ORPHA:660012: NR4A2-related neurodevelopmental syndrome
ORPHA:660017: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
ORPHA:660021: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
ORPHA:660021: AMOTL1-related syndrome
ORPHA:660053: Psittacosis
ORPHA:660053: Ornithosis
ORPHA:660053: Parrot disease
ORPHA:660053: Parrot fever
ORPHA:661: Congenital central hypoventilation syndrome
ORPHA:661: CCHS
ORPHA:661: Congenital central alveolar hypoventilation syndrome
ORPHA:661: Ondine curse
ORPHA:661: Ondine syndrome
ORPHA:661412: Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
ORPHA:661526: MBD4-related tumor predisposition syndrome
ORPHA:662: Lymphedema with yellow nails
ORPHA:662: YNS
ORPHA:662: Yellow nail syndrome
ORPHA:662169: Phelan-McDermid syndrome due to 22q13.3 deletion
ORPHA:662169: 22q13.3 deletion
ORPHA:662169: Chromosome 22q13.3 deletion syndrome
ORPHA:662172: Phelan-McDermid syndrome due to SHANK3 mutation
ORPHA:662175: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
ORPHA:662175: Nabais Sa-de Vries type 2 syndrome
ORPHA:662179: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
ORPHA:662179: Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome
ORPHA:662179: Nabais Sa-de Vries type 1 syndrome
ORPHA:662184: Congenital muscular dystrophy-cataract-intellectual disability syndrome
ORPHA:662184: INPP5K-related syndrome
ORPHA:662189: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
ORPHA:662189: HNRNPR-related neurodevelopmental disorder
ORPHA:662198: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
ORPHA:662198: HNRNPH2-Related Neurodevelopmental Disorder
ORPHA:662207: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
ORPHA:662207: HNRPH1-related neurodevelopmental disorder
ORPHA:662207: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
ORPHA:662216: Mucopolysaccharidosis type 10
ORPHA:662216: Mucopolysaccharidosis type X, MSP type X,MPS10 Mucopolysaccharidosis due to ARSK deficiency
ORPHA:662229: Episodic memory defect leukoencephalopathy
ORPHA:662229: Hippocampal memory defect leukoencephalopathy
ORPHA:662229: White matter hyperintensities-Episodic memory defect leukoencephalopathy
ORPHA:662234: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
ORPHA:662234: Radio-Tartaglia syndrome
ORPHA:662234: SPEN-related neurodevelopmental disorder
ORPHA:662240: Frey syndrome
ORPHA:662240: Auriculo-temporal syndrome
ORPHA:662240: Auriculotemporal syndrome
ORPHA:662240: Baillarger syndrome
ORPHA:662240: Dupuy syndrome
ORPHA:662240: Gustatory hyperhidrosis
ORPHA:662255: Grisel syndrome
ORPHA:662255: Atlantoaxial non-traumatic subluxation
ORPHA:662367: NESCAV syndrome
ORPHA:662367: Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome
ORPHA:662376: Gastric duplication
ORPHA:662376: Stomach duplication
ORPHA:662388: Gallbladder duplication
ORPHA:662392: Colonic duplication
ORPHA:662392: Duplication of the colon
ORPHA:662405: Pyloric duplication
ORPHA:662405: Congenital double pylorus
ORPHA:662405: Duplication cyst of the pyloric canal
ORPHA:662405: Duplication cyst of the pylorus
ORPHA:662456: Small intestine duplication
ORPHA:662456: Small bowel duplication
ORPHA:662473: Duodenal duplication
ORPHA:662480: Jejuno-ileal duplication
ORPHA:662721: Placenta accreta spectrum disorder
ORPHA:662721: AIP
ORPHA:662721: Abnormally invasive placenta
ORPHA:662721: PAI
ORPHA:662721: PAS
ORPHA:662721: Placenta accreta spectrum
ORPHA:662762: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
ORPHA:662762: ARPC4-related syndrome
ORPHA:662786: Vasa previa
ORPHA:662829: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
ORPHA:662934: Acute megakaryoblastic leukemia in adult
ORPHA:662934: AMKL in adult
ORPHA:662934: AML M7 in adult
ORPHA:662934: Acute megakaryocytic leukemia in adult
ORPHA:662934: Acute myeloid leukemia M7 in adult
ORPHA:663: Mitochondrial DNA-related progressive external ophthalmoplegia
ORPHA:663: Maternally-inherited CPEO
ORPHA:663: Maternally-inherited chronic progressive external ophthalmoplegia
ORPHA:663: mtDNA-related progressive external ophthalmoplegia
ORPHA:664: Ornithine transcarbamylase deficiency
ORPHA:664: OCT deficiency
ORPHA:664: OTC deficiency
ORPHA:664: Ornithine carbamoyltransferase deficiency
ORPHA:664372: Soft and hard cleft palate
ORPHA:664372: Combined form of soft and hard cleft palate
ORPHA:664372: Isolated cleft of the soft and hard palate
ORPHA:664377: MGP-related spondyloepiphyseal dysplasia
ORPHA:664377: MGP-related SED
ORPHA:664377: Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome
ORPHA:664401: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
ORPHA:664404: 6q25.1 microdeletion syndrome
ORPHA:664410: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
ORPHA:664410: MEF2C-related syndrome
ORPHA:664410: Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language
ORPHA:664416: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
ORPHA:664430: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
ORPHA:664430: SLC4A10-related neurodevelopmental disorder
ORPHA:664438: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
ORPHA:664438: Liang-Wang syndrome
ORPHA:664450: Inherited cancer-predisposing lymphoproliferative syndrome
ORPHA:664456: Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
ORPHA:664456: Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility
ORPHA:664482: Primary hemophagocytic lymphohistiocytosis without hypopigmentation
ORPHA:664482: Genetic HLH without hypopigmentation
ORPHA:664482: Genetic hemophagocytic lymphohistiocytosis without hypopigmentation
ORPHA:664482: Primary HLH without hypopigmentation
ORPHA:664500: Hermansky-Pudlak syndrome due to AP3B1 deficiency
ORPHA:664500: HPS2
ORPHA:664500: Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency
ORPHA:664500: Hermansky-Pudlak syndrome type 2
ORPHA:664500: Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency
ORPHA:664511: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
ORPHA:664511: Early-onset severe Hermansky-Pudlak syndrome with deafness
ORPHA:664511: Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency
ORPHA:664511: Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency
ORPHA:664511: HPS10
ORPHA:664511: Hermansky-Pudlak syndrome type 10
ORPHA:664699: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
ORPHA:664699: Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency
ORPHA:664711: EBV-induced lymphoproliferative disease due to PRKCD deficiency
ORPHA:664711: EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency
ORPHA:664726: EBV-induced lymphoproliferative disease due to CD137 deficiency
ORPHA:664726: Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency
ORPHA:664729: EBV-induced lymphoproliferative disease due to TET2 deficiency
ORPHA:664729: Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency
ORPHA:664734: EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature
ORPHA:664734: Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature
ORPHA:664787: Nicolau syndrome
ORPHA:664787: Embolia cutis medicamentosa
ORPHA:664787: Livedo-like dermatitis
ORPHA:664901: Trigeminal trophic syndrome
ORPHA:664901: TTS
ORPHA:664901: Trigeminal neuropathy with nasal ulceration
ORPHA:664901: Trigeminal neurotrophic ulceration
ORPHA:664901: Trophic ulceration of the ala nasi
ORPHA:664912: Neonatal renal venous thrombosis
ORPHA:664912: NRVT
ORPHA:664912: Neonatal RVT
ORPHA:664923: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
ORPHA:664923: NEDMABA disorder
ORPHA:664923: Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies
ORPHA:665044: Common arterial trunk with aortic dominance
ORPHA:665058: Common arterial trunk with pulmonary dominance and interrupted aortic arch
ORPHA:66518: Short fifth metacarpals-insulin resistance syndrome
ORPHA:66529: Tako-Tsubo cardiomyopathy
ORPHA:66529: Ampulla cardiomyopathy
ORPHA:66529: Apical ballooning syndrome
ORPHA:66529: Ballooning cardiomyopathy
ORPHA:66529: Broken heart syndrome
ORPHA:66529: Stress cardiomyopathy
ORPHA:66529: Tako-Tsubo syndrome
ORPHA:66529: Takotsubo cardiomyopathy
ORPHA:66529: Takotsubo syndrome
ORPHA:66529: Transient left ventricular apical ballooning syndrome
ORPHA:666: Osteogenesis imperfecta
ORPHA:666: Brittle bone disease
ORPHA:666: Glass bone disease
ORPHA:666: Lobstein disease
ORPHA:666: OI
ORPHA:66624: PANDAS
ORPHA:66624: Pediatric autoimmune disorders associated with Streptococcus infections
ORPHA:66624: Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
ORPHA:66625: Cerebrooculonasal syndrome
ORPHA:66627: Tenosynovial giant cell tumor
ORPHA:66627: Diffuse-type GCT
ORPHA:66627: Diffuse-type giant cell tumor
ORPHA:66627: Pigmented villonodular synovitis
ORPHA:66627: TGCT
ORPHA:66627: TSGCT
ORPHA:66628: Obesity due to congenital leptin deficiency
ORPHA:66629: Goldberg-Shprintzen megacolon syndrome
ORPHA:66629: GOSHS
ORPHA:66629: Megacolon-microcephaly syndrome
ORPHA:66630: Congenital pseudoarthrosis of the clavicle
ORPHA:66630: Congenital pseudarthrosis of the clavicle
ORPHA:66631: CEDNIK syndrome
ORPHA:66631: Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
ORPHA:66633: Sensorineural hearing loss-early graying-essential tremor syndrome
ORPHA:66633: Sensorineural deafness-early graying-essential tremor syndrome
ORPHA:66634: Dilated cardiomyopathy with ataxia
ORPHA:66634: 3-methylglutaconic aciduria type 5
ORPHA:66634: DCMA syndrome
ORPHA:66634: MGA5
ORPHA:66637: Diaphanospondylodysostosis
ORPHA:66637: DSD
ORPHA:66646: Cutaneous mastocytosis
ORPHA:66661: Mast cell sarcoma
ORPHA:66662: Extracutaneous mastocytoma
ORPHA:667: Autosomal recessive malignant osteopetrosis
ORPHA:667: Infantile malignant osteopetrosis
ORPHA:667589: Isolated congenital femoral bifurcation
ORPHA:667589: Isolated congenital distal femoral duplication
ORPHA:667662: Breast implant-associated anaplastic large cell lymphoma
ORPHA:667662: Breast implant-associated ALCL
ORPHA:667662: Seroma-associated ALCL
ORPHA:667678: Intraoral basal cell carcinoma
ORPHA:667678: Basal cell carcinoma of the buccal mucosa
ORPHA:667678: Basal cell carcinoma of the oral cavity
ORPHA:667678: IOBCC intramucosal basal cell carcinoma
ORPHA:668: Osteosarcoma
ORPHA:668: Osteogenic sarcoma
ORPHA:67: Amoebiasis due to Entamoeba histolytica
ORPHA:67036: Autosomal dominant optic atrophy and cataract
ORPHA:67036: Autosomal dominant optic atrophy type 3
ORPHA:67036: OPA3, autosomal dominant
ORPHA:67038: B-cell chronic lymphocytic leukemia
ORPHA:67038: B-CLL
ORPHA:67038: B-cell chronic lymphoid leukemia
ORPHA:67038: CLL
ORPHA:67038: CLL/SLL
ORPHA:67038: Chronic lymphocytic leukemia
ORPHA:67038: Small lymphocytic lymphoma
ORPHA:67039: Segmental odontomaxillary dysplasia
ORPHA:67041: Hyaluronidase deficiency
ORPHA:67041: MPS9
ORPHA:67041: MPSIX
ORPHA:67041: Mucopolysaccharidosis type 9
ORPHA:67041: Mucopolysaccharidosis type IX
ORPHA:67042: Late-onset retinal degeneration
ORPHA:67042: Autosomal dominant late-onset retinal degeneration
ORPHA:67042: LORD
ORPHA:67043: Amoebic keratitis
ORPHA:67044: Thrombocytopenia with congenital dyserythropoietic anemia
ORPHA:67044: Congenital dyserythropoietic anemia with thombocytopenia
ORPHA:67044: X-linked congenital dyserythropoietic anemia with thrombocytopenia
ORPHA:67044: XDAT
ORPHA:67045: X-linked intellectual disability with isolated growth hormone deficiency
ORPHA:67045: MRGH
ORPHA:67046: 3-methylglutaconic aciduria type 1
ORPHA:67046: 3-methylglutaconyl-CoA hydratase deficiency
ORPHA:67046: 3MG-CoA hydratase deficiency
ORPHA:67046: MGA1
ORPHA:67047: 3-methylglutaconic aciduria type 3
ORPHA:67047: Autosomal recessive optic atrophy plus syndrome
ORPHA:67047: Autosomal recessive optic atrophy type 3
ORPHA:67047: Costeff optic atrophy syndrome
ORPHA:67047: Costeff syndrome
ORPHA:67047: Infantile optic atrophy with chorea and spastic paraplegia
ORPHA:67047: MGA3
ORPHA:67048: 3-methylglutaconic aciduria type 4
ORPHA:67048: MGA4
ORPHA:671: Primary cutis verticis gyrata
ORPHA:672: Pallister-Hall syndrome
ORPHA:672: Hypothalamic hamartoblastoma syndrome
ORPHA:672979: Craniosynostosis-facial dysmorphism-brachydactyly syndrome
ORPHA:672979: TCF12-related syndromic craniosynostosis
ORPHA:672985: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
ORPHA:672985: ZIC1-related syndromic craniosynostosis
ORPHA:673: Malaria
ORPHA:673466: Malignant vascular tumor
ORPHA:673466: Metastatic vascular neoplasm
ORPHA:673470: Benign vascular tumor
ORPHA:673473: Borderline vascular tumor
ORPHA:673473: Intermediate tumors
ORPHA:673473: Locally aggressive tumors
ORPHA:673525: Intravascular papillary endothelial hyperplasia
ORPHA:673525: IPEH
ORPHA:673525: Masson's hemangioma
ORPHA:673525: Masson's tumor
ORPHA:673525: Masson's vegetant intravascular hemangiendothelioma
ORPHA:673525: Reactive papillary endothelial hyperplasia
ORPHA:673525: Vegetant intravascular hemangioendothelioma
ORPHA:673538: Littoral cell hemangioma of the spleen
ORPHA:673538: LCA
ORPHA:673538: Littoral cell angioma
ORPHA:673543: Papillary hemangioma
ORPHA:673543: Papillary capillary hemangioma
ORPHA:673556: Pseudomyogenic hemangioendothelioma
ORPHA:673568: Eccrine angiomatous hamartoma
ORPHA:673568: EAH
ORPHA:673568: Eccrine angiomatous nevus
ORPHA:673574: Reactive angioendotheliomatosis
ORPHA:673574: Cutaneous reactive dermatoses
ORPHA:673574: RA
ORPHA:673574: RAE
ORPHA:673580: Classic pilocytic astrocytoma
ORPHA:673580: Juvenile pilocytic astrocytoma
ORPHA:673585: Pilocytic astrocytoma with histological features of anaplasia
ORPHA:673585: Anaplastic pilocytic astrocytoma
ORPHA:674: Accessory pancreas
ORPHA:674499: Proteoglycan-related bone disorder
ORPHA:674648: Syndrome with congenital phagocyte functional defect as a major feature
ORPHA:674648: Syndrome with congenital functional defect of phagocyte as a major feature
ORPHA:674648: Syndrome with constitutional functional phagocyte defect as a major feature
ORPHA:674653: Actinomyopathy-associated syndromic thrombocytopenia
ORPHA:674653: ACTB-AST
ORPHA:674762: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
ORPHA:674762: Early-onset AID due to HA20
ORPHA:674762: Early-onset autoinflammatory disorder due to HA20
ORPHA:674762: Early-onset autoinflammatory syndrome associated with TNFAIP3
ORPHA:674762: HA20-related monogenic Behcet-like disease
ORPHA:674896: Non-syndromic congenital phagocyte functional defect
ORPHA:674896: Non-syndromic congenital functional defect of phagocytes
ORPHA:674896: Non-syndromic constitutional functional phagocyte defect
ORPHA:674924: Isolated retinal racemose hemangioma
ORPHA:674924: Isolated retinal arteriovenous aneurysm 3
ORPHA:674924: RRH
ORPHA:674930: Perifoveal exudative vascular anomalous complex
ORPHA:674930: PEVAC
ORPHA:674935: Torpedo Maculopathy
ORPHA:674935: Atypical macular coloboma
ORPHA:674935: Congenital hypomelanotic freckle
ORPHA:674935: Paramacular albinotic spot syndrome
ORPHA:674935: Solitary hypopigmented nevus of the retinal pigment epithelium
ORPHA:674935: TM
ORPHA:674943: Isolated angioid streaks
ORPHA:674947: Diffuse unilateral subacute neuroretinitis
ORPHA:674947: DUSN
ORPHA:674947: Unilateral wipe-out syndrome
ORPHA:674953: Multiple evanescent white dot syndrome
ORPHA:674953: MEWDS
ORPHA:674958: Stellate multiform amelanotic choroidopathy
ORPHA:674958: SMACH
ORPHA:674958: Serous maculopathy due to aspecific choroidopathy
ORPHA:674965: Choroidal osteoma
ORPHA:674968: Bilateral diffuse uveal melanocytic proliferation disease
ORPHA:674968: BDUMP
ORPHA:674968: Paraneoplastic uveal melanocytic hyperplasia
ORPHA:675: Annular pancreas
ORPHA:675216: Spinocerebellar ataxia type 27B
ORPHA:675359: Anastomosing haemangioma
ORPHA:675362: Hobnail hemangioma
ORPHA:675362: HH
ORPHA:675362: THH
ORPHA:675362: Targetoid hemosiderotic hemangioma
ORPHA:675369: Microvenular haemangioma
ORPHA:675369: MVH
ORPHA:675380: Isolated segmental infantile hemangioma
ORPHA:675380: Large segmental hemangioma
ORPHA:675380: Segmental hemangioma of infancy
ORPHA:675396: Epithelioid hemangioma
ORPHA:675396: ALHE