TaoMedAI/RareMedData huggingface dataset:
ORPHA:325620: Difference of sex development of gynecological interest
ORPHA:325620: DSD of gynecological interest
ORPHA:325620: Disorder of sex development of gynecological interest
ORPHA:325632: 46,XY difference of sex development of gynecological interest
ORPHA:325632: 46,XY DSD of gynecological interest
ORPHA:325632: 46,XY disorder of sex development of gynecological interest
ORPHA:325638: Syndrome with difference of sex development of gynecological interest
ORPHA:325638: Syndrome with DSD of gynecological interest
ORPHA:325638: Syndrome with disorder of sex development of gynecological interest
ORPHA:325665: Genetic difference of sex development of gynecological interest
ORPHA:325665: Genetic DSD of gynecological interest
ORPHA:325665: Genetic disorder of sex development of gynecological interest
ORPHA:325690: Genetic difference of sex development
ORPHA:325690: Genetic DSD
ORPHA:325690: Genetic disorder of sex development
ORPHA:325697: Genetic 46,XX difference of sex development
ORPHA:325697: Genetic 46,XX DSD
ORPHA:325697: Genetic 46,XX disorder of sex development
ORPHA:325706: Genetic 46,XY difference of sex development
ORPHA:325706: Genetic 46,XY DSD
ORPHA:325706: Genetic 46,XY disorder of sex development
ORPHA:325713: Genetic 46,XY difference of sex development of endocrine origin
ORPHA:325713: Genetic 46,XY DSD of endocrine origin
ORPHA:325713: Genetic 46,XY disorder of sex development of endocrine origin
ORPHA:3258: Cenani-Lenz syndrome
ORPHA:3258: Cenani syndactyly
ORPHA:3258: Cenani-Lenz syndactyly
ORPHA:3258: Syndactyly type 7
ORPHA:3259: Syndactyly-polydactyly-ear lobe syndrome
ORPHA:326: Congenital factor V deficiency
ORPHA:326: Owren disease
ORPHA:326: Parahemophilia
ORPHA:326: Proaccelerin deficiency
ORPHA:3260: Idiopathic hypereosinophilic syndrome
ORPHA:3261: Autoimmune lymphoproliferative syndrome
ORPHA:3261: ALPS
ORPHA:3261: Canale-Smith syndrome
ORPHA:3262: Dobrow syndrome
ORPHA:3262: Syngnathia-multiple anomalies syndrome
ORPHA:3263: Syngnathia-cleft palate syndrome
ORPHA:3265: Isolated humero-radial synostosis
ORPHA:3265: Isolated congenital humeroradial fusion
ORPHA:3266: Isolated humero-radio-ulnar synostosis
ORPHA:3266: Isolated congenital humero-radioulnar fusion
ORPHA:3268: Radioulnar synostosis-microcephaly-scoliosis syndrome
ORPHA:3268: Giuffré-Tsukahara syndrome
ORPHA:3268: Tsukahara syndrome
ORPHA:3269: Isolated radio-ulnar synostosis
ORPHA:3269: Isolated congenital radioulnar fusion
ORPHA:327: Congenital factor VII deficiency
ORPHA:327: Congenital proconvertin deficiency
ORPHA:327: Hypoproconvertinemia
ORPHA:3270: Radioulnar synostosis-developmental delay-hypotonia syndrome
ORPHA:3270: Der Kaloustian-McIntosh-Silver syndrome
ORPHA:3273: Synovial sarcoma
ORPHA:3273: Synovialosarcoma
ORPHA:3275: Spondylocarpotarsal synostosis
ORPHA:3275: Synspondylism
ORPHA:3276: Disorder of plasmalogens biosynthesis
ORPHA:328: Congenital factor X deficiency
ORPHA:328: Congenital Stuart factor deficiency
ORPHA:328: Stuart-Prower factor deficiency
ORPHA:3280: Syringomyelia
ORPHA:3282: Multifocal atrial tachycardia
ORPHA:3282: Chaotic atrial tachycardia
ORPHA:3282: MAT
ORPHA:3283: His bundle tachycardia
ORPHA:3283: JET
ORPHA:3283: Junctional ectopic tachycardia
ORPHA:3286: Catecholaminergic polymorphic ventricular tachycardia
ORPHA:3286: Bidirectional ventricular tachycardia induced by catecholamine
ORPHA:3286: CPVT
ORPHA:3286: Malignant paroxysmal ventricular tachycardia
ORPHA:3286: Polymorphic ventricular tachycardia induced by catecholamines
ORPHA:3287: Takayasu arteritis
ORPHA:329: Congenital factor XI deficiency
ORPHA:329: Hemophilia C
ORPHA:329: PTA deficiency
ORPHA:329: Plasma thromboplastin antecedent deficiency
ORPHA:329: Rosenthal factor deficiency
ORPHA:329: Rosenthal syndrome
ORPHA:3291: Teebi-Shaltout syndrome
ORPHA:329173: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
ORPHA:329178: Congenital muscular dystrophy with intellectual disability and severe epilepsy
ORPHA:329178: CDG syndrome type Iu
ORPHA:329178: CDG-Iu
ORPHA:329178: CDG1U
ORPHA:329178: CMD with intellectual disability and severe epilepsy
ORPHA:329178: Carbohydrate deficient glycoprotein syndrome type Iu
ORPHA:329178: Congenital disorder of glycosylation type 1u
ORPHA:329178: Congenital disorder of glycosylation type Iu
ORPHA:329178: DPM2-CDG
ORPHA:329191: Tall stature-long halluces-multiple extra-epiphyses syndrome
ORPHA:329191: Tall stature-scoliosis-macrodactyly of the halluces syndrome
ORPHA:329195: Developmental delay with autism spectrum disorder and gait instability
ORPHA:329195: Developmental delay with ASD and gait instability
ORPHA:3292: Tel Hashomer camptodactyly syndrome
ORPHA:3292: Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome
ORPHA:329211: Autosomal dominant neovascular inflammatory vitreoretinopathy
ORPHA:329211: ADNIV
ORPHA:329217: Cerebral sinovenous thrombosis
ORPHA:329217: CSVT
ORPHA:329224: Schuurs-Hoeijmakers syndrome
ORPHA:329224: PACS1-NDD
ORPHA:329224: PACS1-neurodevelopmental disorder
ORPHA:329224: PACS1-related syndrome
ORPHA:329228: Microcephalic primordial dwarfism due to ZNF335 deficiency
ORPHA:329228: Microcephalic primordial dwarfism, Walsh type
ORPHA:329235: X-linked central congenital hypothyroidism with late-onset testicular enlargement
ORPHA:329235: IGSF1 deficiency syndrome
ORPHA:329235: X-linked central congenital hypothyroidism with late-onset macroorchidism
ORPHA:329242: Congenital chronic diarrhea with protein-losing enteropathy
ORPHA:329242: Congenital chronic diarrhea with exudative enteropathy
ORPHA:329249: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
ORPHA:329258: Autosomal dominant Charcot-Marie-Tooth disease type 2Q
ORPHA:329258: CMT2Q
ORPHA:329284: Beta-propeller protein-associated neurodegeneration
ORPHA:329284: BPAN
ORPHA:329284: NBIA5
ORPHA:329284: Neurodegeneration with brain iron accumulation type 5
ORPHA:329284: SENDA
ORPHA:329284: Static encephalopathy of childhood with neurodegeneration in adulthood
ORPHA:3293: Telecanthus-hypertelorism-strabismus-pes cavus syndrome
ORPHA:329303: PLA2G6-associated neurodegeneration
ORPHA:329303: PLAN
ORPHA:329308: Fatty acid hydroxylase-associated neurodegeneration
ORPHA:329308: FAHN
ORPHA:329314: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
ORPHA:329314: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
ORPHA:329319: Thrombocythemia with distal limb defects
ORPHA:329319: Familial thrombocytosis with transverse limb defect
ORPHA:329319: Hereditary thrombocytosis with transverse limb defect
ORPHA:329324: Inverse Klippel-Trénaunay syndrome
ORPHA:329324: Cutaneous hemangioma with muscle or bone atrophy
ORPHA:329329: Autosomal recessive frontotemporal pachygyria
ORPHA:329332: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
ORPHA:329332: Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome
ORPHA:329336: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
ORPHA:329336: Adult-onset CPEO with mitochondrial myopathy
ORPHA:3294: Extensor tendons of finger anomalies
ORPHA:3294: Hapnes-Boman-Skeie syndrome
ORPHA:329457: Distal arthrogryposis type 5D
ORPHA:329457: DA5D
ORPHA:329457: Distal arthrogryposis type 5 without ophthalmoparesis
ORPHA:329457: Distal arthrogryposis type 5 without ophthalmoplegia
ORPHA:329466: Autosomal dominant focal dystonia, DYT25 type
ORPHA:329466: DYT25
ORPHA:329466: Dystonia 25
ORPHA:329469: Acute megakaryoblastic leukemia in children without Down syndrome
ORPHA:329469: Acute megakaryoblastic leukemia in children without trisomy 21
ORPHA:329469: Non-DS-AMKL
ORPHA:329475: Spastic paraplegia-Paget disease of bone syndrome
ORPHA:329478: Adult-onset distal myopathy due to VCP mutation
ORPHA:329481: Lipoprotein glomerulopathy
ORPHA:329481: LPG
ORPHA:32960: Tumor necrosis factor receptor 1 associated periodic syndrome
ORPHA:32960: Familial Hibernian fever
ORPHA:32960: TNF receptor 1-associated periodic syndrome
ORPHA:32960: TRAPS syndrome
ORPHA:329802: 5p13 microduplication syndrome
ORPHA:329802: Dup(5)(p13)
ORPHA:329802: Trisomy 5p13
ORPHA:329813: Mosaic genome-wide paternal uniparental disomy syndrome
ORPHA:329813: Androgenetic/biparental mosaicism
ORPHA:329813: Genome-wide paternal uniparental disomy mosaicism
ORPHA:329813: Mosaic genome-wide paternal UPD
ORPHA:329874: Idiopathic giant cell myocarditis
ORPHA:329874: IGCM
ORPHA:329883: Non-hypoproteinemic hypertrophic gastropathy
ORPHA:329883: Hypertrophic gastropathy without hypoproteinemia
ORPHA:329888: Juvenile idiopathic inflammatory myopathy
ORPHA:329888: JIIM
ORPHA:329894: Juvenile overlap myositis
ORPHA:3299: Tetanus
ORPHA:329903: Immunoglobulin-mediated membranoproliferative glomerulonephritis
ORPHA:329903: Ig-mediated MPGN
ORPHA:329903: Ig-mediated membranoproliferative glomerulonephritis
ORPHA:329903: Immunoglobulin-mediated MPGN
ORPHA:329918: C3 glomerulopathy
ORPHA:329918: Non-Ig-mediated MPGN
ORPHA:329918: Non-Ig-mediated membranoproliferative glomerulonephritis
ORPHA:329918: Non-immunoglobulin-mediated MPGN
ORPHA:329918: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
ORPHA:329931: C3 glomerulonephritis
ORPHA:329942: Transient neonatal multiple acyl-CoA dehydrogenase deficiency
ORPHA:329942: Transient neonatal MAD deficiency
ORPHA:329942: Transient neonatal MADD
ORPHA:329942: Transient neonatal glutaric acidemia type 2
ORPHA:329942: Transient neonatal glutaric aciduria type 2
ORPHA:329967: Intermittent hydrarthrosis
ORPHA:329971: Generalized juvenile polyposis/juvenile polyposis coli
ORPHA:329977: Classic neuroendocrine tumor of appendix
ORPHA:329977: Classic appendiceal neuroendocrine tumor
ORPHA:329977: Classic appendix neuroendocrine tumor
ORPHA:329984: Goblet cell carcinoma
ORPHA:329984: GCC
ORPHA:329984: Goblet cell adenocarcinoid
ORPHA:329984: Goblet cell carcinoid
ORPHA:329984: Goblet cell tumor
ORPHA:33: Isovaleric acidemia
ORPHA:33: Isovaleric acid CoA dehydrogenase deficiency
ORPHA:330: Congenital factor XII deficiency
ORPHA:330: Congenital Hageman factor deficiency
ORPHA:330001: Wild type ATTR amyloidosis
ORPHA:330001: ATTRwt amyloidosis
ORPHA:330001: ATTRwt-related amyloidosis
ORPHA:330001: Senile systemic amyloidosis
ORPHA:330001: Wild type ATTR-related amyloidosis
ORPHA:33001: Lymphedema-distichiasis syndrome
ORPHA:330012: High altitude pulmonary edema
ORPHA:330012: HAPE
ORPHA:330015: Lead poisoning
ORPHA:330015: Lead intoxication
ORPHA:330015: Plumbism
ORPHA:330015: Saturnism
ORPHA:330021: Mercury poisoning
ORPHA:330021: Hydrargyria
ORPHA:330021: Mercurialism
ORPHA:330021: Mercury intoxication
ORPHA:330029: Hypotrichosis-deafness syndrome
ORPHA:330029: Hypotrichosis-hearing loss syndrome
ORPHA:330032: Hemoglobin Lepore-beta-thalassemia syndrome
ORPHA:330032: HbLepore-beta-thalassemia syndrome
ORPHA:330032: Lepore-beta-thalassemia syndrome
ORPHA:330041: Hemoglobin M disease
ORPHA:330041: M hemoglobinopathy
ORPHA:330050: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
ORPHA:330054: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
ORPHA:330054: Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
ORPHA:330058: Hydroa vacciniforme
ORPHA:330061: Actinic prurigo
ORPHA:330061: Familial polymorphous light eruption of American Indians
ORPHA:330061: Hereditary polymorphous light eruption of American Indians
ORPHA:330061: Hutchinson summer prurigo
ORPHA:330061: Hydroa aestivale
ORPHA:330064: Chronic actinic dermatitis
ORPHA:330064: Actinic reticuloid
ORPHA:330064: Chronic photosensitivity dermatitis
ORPHA:3301: Tetraamelia-multiple malformations syndrome
ORPHA:3301: PAPPA syndrome
ORPHA:3301: PAPPAS
ORPHA:3301: Zimmer phocomelia
ORPHA:330206: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
ORPHA:330206: Genetic MCA
ORPHA:330206: Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)
ORPHA:3303: Tetralogy of Fallot
ORPHA:3304: Fallot complex-intellectual disability-growth delay syndrome
ORPHA:3304: Bindewald-Ulmer-Müller syndrome
ORPHA:3305: Tetraploidy syndrome
ORPHA:3306: Inverted duplicated chromosome 15 syndrome
ORPHA:3306: Duplication/inversion 15q11
ORPHA:3306: Inv dup (15) syndrome
ORPHA:3306: Isodicentric chromosome 15 syndrome
ORPHA:3306: Non-distal tetrasomy 15q
ORPHA:3306: Non-telomeric tetrasomy 15q
ORPHA:3306: idic (15) syndrome
ORPHA:33067: Metaphyseal chondrodysplasia, Jansen type
ORPHA:33069: Dravet syndrome
ORPHA:33069: SMEI
ORPHA:33069: Severe myoclonic epilepsy of infancy
ORPHA:33069: Severe myoclonus epilepsy of infancy
ORPHA:3307: Tetrasomy 18p syndrome
ORPHA:3307: Isochromosome 18p
ORPHA:3309: Tetrasomy 5p syndrome
ORPHA:3309: Isochromosome 5p
ORPHA:331: Congenital factor XIII deficiency
ORPHA:331: Fibrin-stabilizing factor deficiency
ORPHA:3310: Tetrasomy 9p syndrome
ORPHA:3310: Isochromosome 9p
ORPHA:33108: Lethal multiple pterygium syndrome
ORPHA:33108: Autosomal recessive lethal multiple pterygium syndrome
ORPHA:33108: LMPS
ORPHA:33110: Autosomal agammaglobulinemia
ORPHA:33110: Agammaglobulinemia, non-Bruton type
ORPHA:33111: Granulomatous slack skin
ORPHA:331176: Severe congenital neutropenia due to G6PC3 deficiency
ORPHA:331176: SCN due to G6PC3 deficiency
ORPHA:331176: SCN4
ORPHA:331176: Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
ORPHA:331176: Severe congenital neutropenia type 4
ORPHA:331176: Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
ORPHA:331184: Syndrome with congenital neutropenia as a major feature
ORPHA:331184: Syndrome with constitutional neutropenia as a major feature
ORPHA:331184: Syndrome with genetic neutropenia as a major feature
ORPHA:331187: Immunodeficiency due to MASP-2 deficiency
ORPHA:331190: Immunodeficiency due to ficolin3 deficiency
ORPHA:331193: Other immunodeficiency syndromes due to defects in innate immunity
ORPHA:3312: Thalidomide embryopathy
ORPHA:3312: Fetal thalidomide syndrome
ORPHA:331206: Severe combined immunodeficiency due to complete RAG1/2 deficiency
ORPHA:331206: SCID due to complete RAG1/2 deficiency
ORPHA:331217: Syndrome with combined immunodeficiency
ORPHA:331220: Syndome with combined immunodeficiency due to thymic defect
ORPHA:331223: Hyper-IgE syndrome
ORPHA:331226: Susceptibility to infection due to TYK2 deficiency
ORPHA:331232: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
ORPHA:331235: Selective IgM deficiency
ORPHA:331235: Selective immunoglobulin M deficiency
ORPHA:331240: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
ORPHA:331244: Other immunodeficiency syndrome with predominantly antibody defects
ORPHA:331249: Primary hemophagocytic lymphohistiocytosis with hypopigmentation
ORPHA:331249: Genetic HLH with hypopigmentation
ORPHA:331249: Genetic hemophagocytic lymphohistiocytosis with hypopigmentation
ORPHA:331249: Primary HLH with hypopigmentation
ORPHA:3314: Thiemann disease, familial form
ORPHA:3314: Aseptic necrosis of phalangeal epiphyses
ORPHA:3314: Osteochondrosis of phalangeal epiphyses
ORPHA:3316: Thomas syndrome
ORPHA:3316: Potter sequence-cleft lip/palate-cardiopathy syndrome
ORPHA:3317: Thoracolaryngopelvic dysplasia
ORPHA:3317: Barnes syndrome
ORPHA:3318: Essential thrombocythemia
ORPHA:3318: ET
ORPHA:3318: Essential thrombocytosis
ORPHA:3319: Congenital amegakaryocytic thrombocytopenia
ORPHA:3319: CAMT
ORPHA:332: Congenital intrinsic factor deficiency
ORPHA:332: Congenital pernicious anemia
ORPHA:332: Gastric intrinsic factor deficiency
ORPHA:332: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
ORPHA:332: IFD
ORPHA:332: Intrinsic factor deficiency
ORPHA:3320: Thrombocytopenia-absent radius syndrome
ORPHA:3320: TAR syndrome
ORPHA:33208: Idiopathic hypersomnia
ORPHA:33208: Idiopathic excessive sleepiness
ORPHA:3322: Hoyeraal-Hreidarsson syndrome
ORPHA:3322: Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
ORPHA:33226: Waldenström macroglobulinemia
ORPHA:3324: Familial thrombomodulin anomalies
ORPHA:3325: Heparin-induced thrombocytopenia
ORPHA:3325: HAT
ORPHA:3325: HIT
ORPHA:3325: Heparin-associated thrombocytopenia
ORPHA:3325: Heparin-induced thrombocytopenia type 2
ORPHA:3326: Thymic-renal-anal-lung dysplasia
ORPHA:3327: Thyrocerebrorenal syndrome
ORPHA:3327: Cutler-Bass-Romshe syndrome
ORPHA:33276: Kaposi sarcoma
ORPHA:3328: Absent tibia-polydactyly-arachnoid cyst syndrome
ORPHA:3328: Holmes-Collins syndrome
ORPHA:3329: Tibial aplasia-ectrodactyly syndrome
ORPHA:3329: Aplasia of tibia with split-hand/split-foot deformity
ORPHA:3329: SHFLD syndrome
ORPHA:3329: SHFM associated with aplasia of long bones
ORPHA:3329: Split hand/foot malformation with long bone deficiency
ORPHA:3329: Split-hand/foot malformation associated with aplasia of long bones
ORPHA:3329: TH-SHFM
ORPHA:3329: Tibial hemimelia with split hand/foot malformation
ORPHA:3329: Tibial hemimelia-ectrodactyly syndrome
ORPHA:333: Farber disease
ORPHA:333: Acid ceramidase deficiency
ORPHA:333: Farber lipogranulomatosis
ORPHA:33314: Jessner lymphocytic infiltration of the skin
ORPHA:33314: Jessner-Kanof lymphocytic infiltration of the skin
ORPHA:33355: Reticular dysgenesis
ORPHA:33355: AK2 deficiency
ORPHA:33355: De Vaal disease
ORPHA:33355: SCID with sensorineural deafness
ORPHA:33355: SCID with sensorineural hearing loss
ORPHA:33355: Severe combined immunodeficiency with sensorineural deafness
ORPHA:33355: Severe combined immunodeficiency with sensorineural hearing loss
ORPHA:33364: Trichothiodystrophy
ORPHA:3337: Primary Fanconi renotubular syndrome
ORPHA:3337: DeToni-Debré-Fanconi syndrome
ORPHA:3337: Primary Fanconi renal syndrome
ORPHA:3338: Toriello-Carey syndrome
ORPHA:3338: Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
ORPHA:3339: Oculoectodermal syndrome
ORPHA:3339: Aplasia cutis congenita-epibulbar dermoids syndrome
ORPHA:334: Familial atrial fibrillation
ORPHA:33402: Pediatric hepatocellular carcinoma
ORPHA:33402: Childhood-onset HCC
ORPHA:33402: Childhood-onset hepatocellular carcinoma
ORPHA:33402: Pediatric HCC
ORPHA:33408: Bullous lichen planus
ORPHA:3341: Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
ORPHA:3342: Arterial tortuosity syndrome
ORPHA:3342: ATS
ORPHA:3343: Toxocariasis
ORPHA:3344: Weismann-Netter syndrome
ORPHA:3344: Anterior bowing of legs with dwarfism
ORPHA:3344: Toxopachyosteose diaphysaire tibio-peroniere
ORPHA:3344: WNS
ORPHA:3344: Weismann-Netter-Stuhl syndrome
ORPHA:33445: Neuroectodermal melanolysosomal disease
ORPHA:33445: Elejalde neuroectodermal melanolysosomal disease
ORPHA:3346: Tracheal agenesis
ORPHA:3346: Tracheal atresia
ORPHA:3347: Mounier-Kühn syndrome
ORPHA:3347: Congenital tracheobronchomegaly
ORPHA:3347: Idiopathic tracheobronchomegaly
ORPHA:3347: Tracheobronchomegaly
ORPHA:33475: Meningococcal meningitis
ORPHA:3348: Tracheobronchopathia osteochondroplastica
ORPHA:3348: Tracheopathia osteoplastica
ORPHA:335: Congenital fibrinogen deficiency
ORPHA:3350: Tremor-nystagmus-duodenal ulcer syndrome
ORPHA:3350: Neuhauser-Daly-Magnelli syndrome
ORPHA:3351: Trichodental syndrome
ORPHA:3351: Kersey syndrome
ORPHA:3352: Tricho-dento-osseous syndrome
ORPHA:3352: TDO syndrome
ORPHA:3353: Trichodermodysplasia-dental alterations syndrome
ORPHA:3353: Pinheiro-Freire Maia-Miranda syndrome
ORPHA:33543: Kleine-Levin syndrome
ORPHA:3355: Trichoodontoonychial dysplasia
ORPHA:3355: Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
ORPHA:33572: 5-oxoprolinase deficiency
ORPHA:33572: Oxoprolinuria due to oxoprolinase deficiency
ORPHA:33573: Gamma-glutamyl transpeptidase deficiency
ORPHA:33573: Gamma-glutamyl transferase deficiency
ORPHA:33573: Glutathionuria
ORPHA:33574: Glutamate-cysteine ligase deficiency
ORPHA:33574: Gamma-glutamylcysteine synthetase deficiency
ORPHA:33577: Nodular non-suppurative panniculitis
ORPHA:33577: Idiopathic lobular panniculitis
ORPHA:33577: Idiopathic nodular panniculitis
ORPHA:33577: Pfeiffer-Weber-Christian syndrome
ORPHA:33577: Relapsing febrile nodular nonsuppurative panniculitis
ORPHA:33577: Relapsing febrile nodular panniculitis
ORPHA:33577: WCD
ORPHA:33577: Weber-Christian disease
ORPHA:33577: Weber-Christian panniculitis
ORPHA:3361: Trichodysplasia-xeroderma syndrome
ORPHA:3363: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ORPHA:3363: Long eyelashes-intellectual disability syndrome
ORPHA:3363: Oliver-McFarlane syndrome
ORPHA:3365: Trigonocephaly-broad thumbs syndrome
ORPHA:3365: Hunter-Rudd-Hoffmann syndrome
ORPHA:3366: Non-syndromic metopic craniosynostosis
ORPHA:3366: Isolated metopic craniosynostosis
ORPHA:3366: Isolated trigonocephaly
ORPHA:3366: Non-syndromic metopic suture synostosis
ORPHA:3368: Trigonocephaly-bifid nose-acral anomalies syndrome
ORPHA:3369: Trigonocephaly-short stature-developmental delay syndrome
ORPHA:3369: Say-Meyer syndrome
ORPHA:337: Fibrodysplasia ossificans progressiva
ORPHA:337: FOP
ORPHA:337: Myositis ossificans progressiva
ORPHA:337: Stone man syndrome
ORPHA:3374: Unilateral ocular duplication
ORPHA:3374: Triophthalmia
ORPHA:3374: Triopia
ORPHA:3374: Unilateral diplophthalmia
ORPHA:3374: Unilateral diplophthalmos
ORPHA:3375: Trisomy X syndrome
ORPHA:3375: 47,XXX syndrome
ORPHA:3375: Triplo-X syndrome
ORPHA:3375: XXX syndrome
ORPHA:3376: Triploidy syndrome
ORPHA:3377: Trismus-pseudocamptodactyly syndrome
ORPHA:3377: Distal arthrogryposis type 7
ORPHA:3377: Dutch-Kentucky syndrome
ORPHA:3377: Hecht syndrome
ORPHA:3377: Hecht-Beals syndrome
ORPHA:3378: Trisomy 13 syndrome
ORPHA:3378: Patau syndrome
ORPHA:3379: Distal duplication 17q syndrome
ORPHA:3379: Distal trisomy 17q
ORPHA:3379: Telomeric duplication 17q
ORPHA:3379: Trisomy 17qter
ORPHA:3380: Trisomy 18 syndrome
ORPHA:3380: Chromosome 18 duplication
ORPHA:3380: Edwards syndrome
ORPHA:3383: Humerus trochlea aplasia
ORPHA:3384: Common arterial trunk
ORPHA:3384: CAT
ORPHA:3384: Common aorticopulmonary trunk
ORPHA:3384: Truncus arteriosus
ORPHA:3385: African trypanosomiasis
ORPHA:3385: Sleeping sickness
ORPHA:3386: American trypanosomiasis
ORPHA:3386: Chagas disease
ORPHA:3387: Isolated anterior cervical hypertrichosis
ORPHA:3387: Hairy throat syndrome
ORPHA:3387: Tsukahara-Kajii syndrome
ORPHA:3388: Neural tube defect
ORPHA:3389: Tuberculosis
ORPHA:3392: Tularemia
ORPHA:3394: Soft tissue sarcoma
ORPHA:3394: Malignant mesenchymal tumor
ORPHA:3394: Malignant soft tissue tumor
ORPHA:3394: Soft part sarcoma
ORPHA:3398: Thymic epithelial neoplasm
ORPHA:3398: TEN
ORPHA:3398: Thymic epithelial tumor
ORPHA:3399: Germ cell tumor
ORPHA:340: Hemorrhagic fever-renal syndrome
ORPHA:340: Hantavirosis
ORPHA:340: Hantavirus fever
ORPHA:3400: Aorto-ventricular tunnel
ORPHA:3402: Transient tyrosinemia of the newborn
ORPHA:3402: Transient tyrosinemia of the neonate
ORPHA:3403: Uhl anomaly
ORPHA:3404: Ulbright-Hodes syndrome
ORPHA:3404: Renal dysplasia-limb defects syndrome
ORPHA:3404: Renal dysplasia-mesomelia-radiohumeral fusion syndrome
ORPHA:3405: Umbilical cord ulceration-intestinal atresia syndrome
ORPHA:3406: Ulerythema ophryogenesis
ORPHA:3408: Upington disease
ORPHA:3408: Hip dysplasia-enchondromata-ecchondroma syndrome
ORPHA:3409: Urban-Rogers-Meyer syndrome
ORPHA:3409: Intellectual disability-short stature-hand contractures-genital anomalies syndrome
ORPHA:3409: Prader-Willi habitus-osteopenia-camptodactyly syndrome
ORPHA:341: Viral hemorrhagic fever
ORPHA:3411: Double uterus-hemivagina-renal agenesis syndrome
ORPHA:3411: Double uterus and obstructed hemivagina syndrome
ORPHA:3411: HWW syndrome
ORPHA:3411: Herlyn-Werner-Wunderlich syndrome
ORPHA:3411: OHVIRA syndrome
ORPHA:3411: Obstructed hemivagina and ipsilateral renal anomaly
ORPHA:3412: VACTERL with hydrocephalus
ORPHA:3412: Sujansky-Leonard syndrome
ORPHA:34145: Immunoglobulin A nephropathy
ORPHA:34145: Berger disease
ORPHA:34145: IgA nephropathy
ORPHA:34149: Autosomal dominant tubulointerstitial kidney disease
ORPHA:34149: ADTKD
ORPHA:34149: Familial juvenile hyperuricemic nephropathy
ORPHA:34149: MCKD
ORPHA:34149: Medullary cystic kidney disease
ORPHA:3416: Hyperostosis corticalis generalisata
ORPHA:3416: Hyperphosphatasemia tarda