- Torg syndrome - See Torg Winchester syndrome
- Torg Winchester syndrome
- Toriello Higgins Miller syndrome - See Chondrodysplasia punctata syndrome
- Toriello Lacassie Droste syndrome - See Oculoectodermal syndrome
- Toriello-Carey syndrome
- Torsion dystonia 2 - See Dystonia 2, torsion, autosomal recessive
- Torsion dystonia 2, autosomal recessive type - See Dystonia 2, torsion, autosomal recessive
- Torsion dystonia adult onset mixed type - See DYT-THAP1
- Torsion dystonia-Parkinsonism, Filipino type - See X-linked dystonia-parkinsonism/Lubag
- Torticollis keloids cryptorchidism renal dysplasia
- Torticollis, congenital - See Congenital torticollis
- Torticollis, familial
- Torulopsis glabrata (formerly) - See Candida glabrata
- TOS - See Thoracic outlet syndromes - not a rare disease
- Total Amelia - See Tetra-amelia syndrome
- Total anomalous pulmonary venous return - See Pulmonary venous return anomaly
- Total anonychia congenita and microcephaly - See Anonychia total with microcephaly
- Total anonychia congenita and microcephaly with normal intelligence - See Teebi Kaurah syndrome
- Total anonychia with microcephaly - See Anonychia total with microcephaly
- Total colorblindness with myopia - See Achromatopsia 3
- Total hexosaminidase deficiency - See Sandhoff disease
- Total Hypotrichosis, Mari type
- Total leukonychia - See Leukonychia totalis
- Total lipodystrophy and acromegaloid gigantism - See Congenital generalized lipodystrophy type 2
- Total uveitis - See Panuveitis
- Touraine Solente Gole syndrome - See Pachydermoperiostosis
- Tourette disorder - See Tourette syndrome - not a rare disease
- Tourette syndrome - not a rare disease
- Tourette's syndrome - See Tourette syndrome - not a rare disease
- Townes syndrome - See Townes-Brocks syndrome
- Townes-Brocks syndrome
- Toxic encephalopathy - See Neurotoxicity syndromes
- Toxic epidermal necrolysis - See Stevens-Johnson syndrome/toxic epidermal necrolysis
- Toxocariasis - not a rare disease
- Toxopachyosteose diaphysaire tibio-peroniere - See Bowing of legs, anterior with dwarfism
- TPI deficiency - See Triosephosphate isomerase deficiency
- TPMT deficiency - See Thiopurine S methyltranferase deficiency
- TPT - See Triphalangeal thumb non opposable
- Trabecular myopathy
- Tracheal agenesis
- Tracheobronchial stenosis, congenital - See Congenital tracheal stenosis
- Tracheobronchomalacia
- Tracheobronchomegaly
- Tracheobronchopathia osteochondroplastica - See Tracheobronchopathia osteoplastica
- Tracheobronchopathia osteoplastica
- Tracheoesophageal fistula
- Tracheoesophageal fistula symphalangism
- Tracheoesophageal fistula with or without esophageal atresia - See Tracheoesophageal fistula
- Tracheomalacia, congenital - See Congenital tracheomalacia
- Tracheopathia osteoplastica - See Tracheobronchopathia osteoplastica
- Tracheophageal fistula hypospadias
- Trachoma
- Trachyonychia - See Twenty-nail dystrophy
- Tranebjaerg Svejgaard syndrome
- Tranebjaerg-Svejgaard syndrome - See Tranebjaerg Svejgaard syndrome
- Transaldolase deficiency
- Transcobalamin 1 deficiency
- Transcortin deficiency - See Corticosteroid-binding globulin deficiency
- Transient abnormal myelopoiesis - See Transient myeloproliferative syndrome
- Transient acantholytic dermatosis - See Grover's disease - not a rare disease
- Transient antero-apical dyskinesia - See Broken heart syndrome
- Transient Anton's syndrome - See Anton's syndrome
- Transient bullous dermolysis of the newborn
- Transient erythroblastopenia of childhood
- Transient familial hyperbilirubinemia - See Lucey-Driscoll syndrome
- Transient familial neonatal hyperbilirubinemia - See Lucey-Driscoll syndrome
- Transient global amnesia
- Transient infantile liver failure
- Transient monocular blindness - See Amaurosis fugax
- Transient myeloproliferative disease - See Transient myeloproliferative syndrome
- Transient myeloproliferative syndrome
- Transient neonatal diabetes mellitus
- Transient reactive papulotranslucent acrokeratoderma - See Aquagenic syringeal acrokeratoderm
- Transitional cell cancer of the renal pelvis and ureter
- Transitional cell carcinoma
- Transplant megalocytic interstitial nephritis (type) - See Megalocytic interstitial nephritis
- Transposition of the great arteries
- Transposition of the great arteries, congenitally corrected - See Congenitally corrected transposition of the great arteries
- Transposition of the great vessels, congenitally corrected - See Congenitally corrected transposition of the great arteries
- Transthyretin amyloid neuropathy - See Familial transthyretin amyloidosis
- Transthyretin amyloid polyneuropathy - See Familial transthyretin amyloidosis
- Transthyretin amyloidosis - See Familial transthyretin amyloidosis
- Transverse limb deficiency hemangioma
- Transverse myelitis
- Trapezoidocephaly synostosis syndrome - See Antley Bixler syndrome
- TRAPS - See Tumor necrosis factor receptor-associated periodic syndrome
- Treacher Collins syndrome
- Treacher Collins syndrome 3
- Treacher Collins-Franceschetti syndrome - See Treacher Collins syndrome
- Treft-Sanborn-Carey syndrome - See Autosomal dominant optic atrophy plus syndrome
- Trehalase deficiency
- Trehalose intolerance - See Trehalase deficiency
- Trembling chin - See Hereditary geniospasm
- Tremor familial essential, 1 - See Tremor hereditary essential, 1
- Tremor hereditary essential, 1
- Tremor hereditary essential, 2
- Tremor nystagmus duodenal ulcer - See Neuhauser Daly Magnelli syndrome
- Tremor, hereditary essential, 1 - See Essential tremor - not a rare disease
- Tremors, nystagmus and duodenal ulcers
- Treponema infection
- Treponema pertenue infection - See Yaws
- Treponemal infections - See Treponema infection
- Trevor disease - See Dysplasia epiphysealis hemimelica
- TREX1-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 1
- Triangular tibia and fibular aplasia - See Mesomelic dysplasia Savarirayan type
- Triatrial heart - See Cor triatriatum
- Trichinellosis - See Trichinosis
- Trichiniasis - See Trichinosis
- Trichinosis
- Tricho odonto onycho dermal syndrome
- Tricho odonto onychodysplasia syndactyly dominant type
- Tricho onychic dysplasia
- Tricho onycho hypohidrotic dysplasia
- Tricho retino dento digital syndrome
- Trichocephaliasis - See Trichuriasis
- Trichodental dysplasia - See Trichodental syndrome
- Tricho-dental dysplasia - See Trichodental syndrome
- Trichodental dysplasia with hyperopia - See Pilodental dysplasia with refractive errors
- Trichodental syndrome
- Tricho-dental syndrome - See Trichodental syndrome
- Tricho-dento-osseous syndrome
- Tricho-dento-osseous syndrome 1
- Trichodermal syndrome and mental retardation - See Katsantoni Papadakou Lagoyanni syndrome
- Trichodermodysplasia with dental alterations - See Pinheiro Freire-Maia Miranda syndrome
- Trichodysplasia xeroderma
- Trichoepithelioma multiple familial - See Multiple familial trichoepithelioma
- Trichoepithelioma multiple familial 1 - See Multiple familial trichoepithelioma
- Trichoepithelioma multiple familial 2 - See Multiple familial trichoepithelioma
- Trichofolliculoma
- Trichohepatoenteric syndrome
- Tricho-hepato-enteric syndrome - See Trichohepatoenteric syndrome
- Trichomalacia
- Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
- Trichooculodermovertebral syndrome - See Arthrogryposis and ectodermal dysplasia
- Tricho-oculo-dermo-vertebral syndrome - See Arthrogryposis and ectodermal dysplasia
- Trichoodontoonychial dysplasia
- Tricho-odonto-onychodysplasia with syndactyly - See Trueb Burg Bottani syndrome
- Tricho-onycho-hypohidrotic ectodermal dysplasia - See Viljoen Winship syndrome
- Trichophytia profunda barbae - See Kerion celsi
- Trichophytia profunda capitis - See Kerion celsi
- Trichophyton infection - See Kerion celsi
- Trichorhinophalangeal syndrome type 1
- Trichorhinophalangeal syndrome type 2
- Trichorhinophalangeal syndrome type 3
- Trichorhinophalangeal syndrome type II - See Trichorhinophalangeal syndrome type 2
- Trichoscyphodysplasia
- Trichostasis spinulosa
- Trichothiodystrophy
- Trichothiodystrophy with congenital ichtyosis - See Trichothiodystrophy
- Trichotillomania - not a rare disease
- Trichuriasis
- Tricuspid atresia
- Trifunctional protein deficiency type 1 - See LCHAD deficiency
- Trigeminal anesthesia, familial - See Corneal hypesthesia, familial
- Trigeminal neuralgia
- Trigeminal trophic syndrome
- Trigger thumb
- Triglyceride storage disease with impaired long-chain fatty acid oxidation - See Chanarin-Dorfman syndrome
- Trigonitis - See Interstitial cystitis - not a rare disease
- Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia - SeeTrigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
- Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
- Trigonocephaly - bifid nose - acral anomalies - See Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
- Trigonocephaly bifid nose acral anomalies
- Trigonocephaly C syndrome - See C syndrome
- Trigonocephaly ptosis coloboma - See Baraitser-Winter syndrome
- Trigonocephaly ptosis mental retardation - See Baraitser-Winter syndrome
- Trigonocephaly syndrome - See C syndrome
- Trigonocephaly with short stature and developmental delay - See Hunter Rudd Hoffmann syndrome
- Trigonocephaly, short stature and developmental delay - See Say Meyer syndrome
- Trigonocephaly, short stature, and retarded psychomotor development - See Say Meyer syndrome
- Trigonomacrocephaly tibial defect polydactyly
- Trihydroxycholestanoylcoa oxidase isolated deficiency
- Trihydroxycoprostanic acid in bile - See Bile acid synthesis defect, congenital, 4
- Trihydroxycoprostanic acid to cholic acid - See Bile acid synthesis defect, congenital, 4
- Triiodothyronine resistence - See Allan-Herndon-Dudley syndrome
- Trimethylaminuria
- Triopia
- Triose phosphate-isomerase deficiency - See Triosephosphate isomerase deficiency
- Triosephosphate isomerase deficiency
- TRIP12 mutation - See Autosomal dominant intellectual disability 49
- TRIP12 mutations - See Autosomal dominant intellectual disability 49
- Triphalangeal thumb and brachyectrodactyly syndrome - See Triphalangeal thumbs brachyectrodactyly
- Triphalangeal thumb and brachy-ectrodactyly syndrome - See Triphalangeal thumbs brachyectrodactyly
- Triphalangeal thumb non opposable
- Triphalangeal thumb-polysyndactyly syndrome - See Preaxial polydactyly type 2
- Triphalangeal thumbs and dislocation of patella - See Say-Field-Coldwell syndrome
- Triphalangeal thumbs brachyectrodactyly
- Triphalangeal thumbs thrombocytopathy deafness - See Schlegelberger Grote syndrome
- Triphalyngeal thumbs and brachyectrodactyly - See Carnevale Hernandez Castillo syndrome
- Triple A syndrome
- Triple X syndrome - See 47 XXX syndrome
- Triple-X chromosome syndrome - See 47 XXX syndrome
- Triple-X female - See 47 XXX syndrome
- Triplo X syndrome - See 47 XXX syndrome
- Triploid syndrome - See Triploidy
- Triploidy
- Triploidy syndrome - See Triploidy
- Trismus-pseudocamptodactyly syndrome
- Trisomy 10p - See Chromosome 10p duplication
- Trisomy 10q - See Chromosome 10q duplication
- Trisomy 11 mosaicism
- Trisomy 11p - See Chromosome 11p duplication
- Trisomy 11q - See Chromosome 11q duplication
- Trisomy 12 mosaicism
- Trisomy 12p - See Chromosome 12p duplication
- Trisomy 12q - See Chromosome 12q duplication
- Trisomy 13
- Trisomy 13 mosaicism - See Mosaic trisomy 13
- Trisomy 13q - See Chromosome 13q duplication
- Trisomy 14 mosaicism - See Mosaic trisomy 14
- Trisomy 14q - See Chromosome 14q duplication
- Trisomy 15 mosaicism - See Chromosome 15, trisomy mosaicism
- Trisomy 15q - See Chromosome 15q duplication
- Trisomy 16 - See Chromosome 16 trisomy
- Trisomy 16-18 (formerly) - See Trisomy 18
- Trisomy 16p - See Chromosome 16p duplication
- Trisomy 16p13.11 - See 16p13.11 microduplication syndrome
- Trisomy 16pter - See Chromosome 16p13.3 duplication
- Trisomy 16q - See Chromosome 16q duplication
- Trisomy 17 - See Trisomy 17 mosaicism
- Trisomy 17 mosaicism
- Trisomy 17p - See Chromosome 17p duplication
- Trisomy 17q - See Chromosome 17q duplication
- Trisomy 17q12 - See 17q12 duplication
- Trisomy 18
- Trisomy 18p - See Chromosome 18p duplication
- Trisomy 18q - See Chromosome 18q duplication
- Trisomy 19p - See Chromosome 19p duplication
- Trisomy 19q - See Chromosome 19q duplication
- Trisomy 1p - See Chromosome 1p duplication
- Trisomy 2 mosaicism
- Trisomy 20 - See Chromosome 20 trisomy
- Trisomy 20 mosaicism - See Chromosome 20 trisomy
- Trisomy 20p - See Chromosome 20p duplication
- Trisomy 20q - See Chromosome 20q duplication
- Trisomy 21 - See Down syndrome - not a rare disease
- Trisomy 21q - See Chromosome 21q duplication
- Trisomy 22
- Trisomy 22 mosaicism - See Mosaic trisomy 22
- Trisomy 2p - See Chromosome 2p duplication
- Trisomy 2q - See Chromosome 2q duplication
- Trisomy 3 mosaicism
- Trisomy 3p - See Chromosome 3p duplication
- Trisomy 3q - See Chromosome 3q duplication
- Trisomy 3q29 - See Chromosome 3q29 microduplication syndrome
- Trisomy 4p - See Chromosome 4p duplication
- Trisomy 4q - See Chromosome 4q duplication
- Trisomy 5p - See Chromosome 5p duplication
- Trisomy 5q - See Chromosome 5q duplication
- Trisomy 6 mosaicism - See Mosaic trisomy 6
- Trisomy 6p - See Chromosome 6p duplication
- Trisomy 6q - See Chromosome 6q duplication
- Trisomy 7 mosaicism - See Mosaic trisomy 7
- Trisomy 7p - See Chromosome 7p duplication
- Trisomy 7q - See Chromosome 7q duplication
- Trisomy 7q11.23 - See 7q11.23 duplication syndrome
- Trisomy 8 mosaicism - See Mosaic trisomy 8
- Trisomy 8p - See Chromosome 8p duplication
- Trisomy 8q - See Chromosome 8q duplication
- Trisomy 8q12 - See 8q12 microduplication syndrome
- Trisomy 9 mosaicism - See Mosaic trisomy 9
- Trisomy 9p - See Chromosome 9p duplication
- Trisomy 9q - See Chromosome 9q duplication
- Trisomy chromosome 16 - See Chromosome 16 trisomy
- Trisomy chromosome 20 - See Chromosome 20 trisomy
- Trisomy E (formerly) - See Trisomy 18
- Trisomy X - See 47 XXX syndrome
- Trisomy Xp11.22p11.23 - See Microduplication Xp11.22-p11.23 syndrome
- Trisomy Xp11.22-p11.23 - See Microduplication Xp11.22-p11.23 syndrome
- Trisomy Xq - See Chromosome Xq duplication
- TRMA - See Thiamine responsive megaloblastic anemia syndrome
- Trochlea of the humerus aplasia of
- Trochlear dysplasia
- Trochlear nerve palsy, familial congenital - See Familial congenital palsy of trochlear nerve
- Trochleitis
- Tropheryma whippelii infection - See Whipple disease
- Trophoblastic tumor placental site
- Tropical enteropathy - See Tropical sprue
- Tropical spastic paraparesis (formerly) - See HTLV-1 associated myelopathy/tropical spastic paraparesis
- Tropical sprue
- Troyer syndrome
- TRPS 2 - See Trichorhinophalangeal syndrome type 2
- TRPS 3 - See Trichorhinophalangeal syndrome type 3
- TRPS1 - See Trichorhinophalangeal syndrome type 1
- True microcephaly - See Autosomal recessive primary microcephaly
- True thymic hyperplasia
- Trueb Burg Bottani syndrome
- Trypanosomiasis, Human East-African
- Trypanosomiasis, Human West-African
- Tryptophanuria with dwarfism
- Tsao Ellingson syndrome - See Infantile spasms broad thumbs
- TSD - See Tay-Sachs disease
- TSGCT - See Pigmented villonodular synovitis
- TSH deficiency - See Thyrotropin deficiency, isolated
- Tsukahara Azuno Kajii syndrome
- Tsukahara Kajii syndrome - See Isolated anterior cervical hypertrichosis
- Tsukahara syndrome - See Radioulnar synostosis-microcephaly-scoliosis syndrome
- Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation - SeeRadioulnar synostosis-microcephaly-scoliosis syndrome
- TTP - See Thrombotic thrombocytopenic purpura, acquired
- TTP, congenital - See Congenital thrombotic thrombocytopenic purpura
- TTR amyloid neuropathy - See Familial transthyretin amyloidosis
- TTTS - See Twin to twin transfusion syndrome
- Tubercular meningitis - See Tuberculous meningitis
- Tuberculosis
- Tuberculous meningitis
- Tuberculous uveitis
- Tuberous sclerosis
- Tuberous sclerosis 1 - See Tuberous sclerosis
- Tuberous sclerosis complex - See Tuberous sclerosis
- Tuberous sclerosis polycystic kidney disease contiguous gene syndrome - See Polycystic kidneys, severe infantile with tuberous sclerosis
- Tuberous sclerosis, type 1
- Tuberous sclerosis, type 2
- Tubular aggregate myopathy
- Tubular solid adenoma - See Epithelial-myoepithelial carcinoma
- Tubulointerstitial nephritis and uveitis
- Tucker syndrome
- Tufted angioma
- Tufted hair folliculitis
- Tufting enteropathy
- Tukel syndrome
- Tularemia
- Tumefactive multiple sclerosis
- Tumid lupus erythematosus - See Lupus erythematosus tumidus
- Tumor necrosis factor receptor-associated periodic syndrome
- Tumor of cranial and spinal nerves
- Tumor of spleen - See Splenic neoplasm
- Tumor predisposition syndrome - See BAP1 tumor predisposition syndrome
- Tumor susceptibility linked to germline BAP1 mutations - See BAP1 tumor predisposition syndrome
- Tumoral calcinosis, hyperphosphatemic, familial - See Hyperphosphatemic familial tumoral calcinosis
- Tumor-induced osteomalacia - See Oncogenic osteomalacia
- Tunga penetrans - See Tungiasis
- Tungiasis
- Tunglang Savage Bellman syndrome
- Turban tumor syndrome - See Familial cylindromatosis
- Turban tumors - See Familial cylindromatosis
- Turcot syndrome
- Turner syndrome
- Turner Varny Syndrome - See Turner syndrome
- Turner-Kieser syndrome - See Nail-patella syndrome
- TUSC3-CDG
- Twenty nail dystrophy - See Twenty-nail dystrophy
- Twenty-nail dystrophy
- Twin to twin transfusion syndrome
- Twin-to-twin transfusion syndrome - See Twin to twin transfusion syndrome
- Twisted hair - See Pili torti
- Twisted hair with nail dysplasias - See Pili torti onychodysplasia
- Tylosis
- Tylosis - oesophageal carcinoma - See Tylosis with esophageal cancer
- Tylosis with esophageal cancer
- Tylosis-oesophageal carcinoma syndrome - See Tylosis with esophageal cancer
- Type - Epigastric - defect in the cephalic fold - See Paraomphalocele
- Type - Hypogastric - defect in the caudal fold - See Paraomphalocele
- Type 1 diabetes - See Diabetes mellitus type 1 - not a rare disease
- Type 1 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type 1 neurofibromatosis - See Neurofibromatosis type 1
- Type 1 plasminogen deficiency
- Type 1 syndactyly-microcephaly-intellectual disability syndrome - See Filippi syndrome
- Type 1 tracheomalacia - See Congenital tracheomalacia
- Type 1 Xanthinuria - See Xanthinuria type 1
- Type 14 glycogenosis - See PGM1-CDG
- type 2 (Andre syndrome) - See Oto-Palatal-digital syndrome
- Type 2 hyperprolinemia - See Hyperprolinemia type 2
- Type 2 MacTel - See Macular telangiectasia type 2 - not a rare disease
- Type 2 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type 2 punctate PPK - See Punctate palmoplantar keratoderma type 2
- Type 2 rhizomelic chondrodysplasia punctata - See Rhizomelic chondrodysplasia punctata
- Type 2 Xanthinuria - See Xanthinuria type 2
- Type 3 Berardinelli-Seip congenital lipodystrophy - See Congenital generalized lipodystrophy type 3
- Type 3 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type 4 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type 6 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type 7 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type 8 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type 9 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
- Type A insulin resistance syndrome - See Insulin-resistant acanthosis nigricans, type A
- Type E brachydactyly - See Brachydactyly type E
- Type I congenital dyserythropoietic anemia - See Congenital dyserythropoietic anemia type 1
- Type I hyperlipoproteinemia - See Familial lipoprotein lipase deficiency
- Type I Polyglandular Autoimmune Syndrome - See Autoimmune polyglandular syndrome type 1
- Type I punctate palmoplantar keratoderma - See Punctate palmoplantar keratoderma type I
- Type II 3-beta-hydroxysteroid dehydrogenase deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
- Type II Xanthinuria - See Xanthinuria type 2
- Type of genodermatosis - See Ulerythema ophryogenesis
- Type V hyperlipoproteinemia - See Hyperlipoproteinemia type 5
- Type V OI - See Osteogenesis imperfecta type V
- Typhoid - See Typhoid fever
- Typhoid fever
- Typhus
- Typical congenital nemaline myopathy
- Typical nemaline myopathy - See Typical congenital nemaline myopathy
- Typus degenerativus amstelodamensis - See Cornelia de Lange syndrome
- Tyrosinase-positive oculocutaneous albinism - See Oculocutaneous albinism type 2
- Tyrosine aminotransferase deficiency - See Tyrosinemia type 2
- Tyrosine hydroxylase deficiency
- Tyrosine transaminase deficiency - See Tyrosinemia type 2
- Tyrosinemia type 1
- Tyrosinemia type 2
- Tyrosinemia type 3
- Tyrosinemia type I - See Tyrosinemia type 1
- Tyrosinemia type II - See Tyrosinemia type 2
- Tyrosinemia type III - See Tyrosinemia type 3
- Tyrosine-oxidase temporary deficiency
- Tyrosinosis oculocutaneous type - See Tyrosinemia type 2
domingo, 27 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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