- T cell immunodeficiency primary
- T penetrans - See Tungiasis
- T3 resisitence - See Allan-Herndon-Dudley syndrome
- TA - See Takayasu arteritis
- Tabatznik syndrome
- Tabes dorsalis - See Syphilitic myelopathy
- Tachyphemia - See Cluttering
- TAD - See Grover's disease - not a rare disease
- Taeniasis - See Cysticercosis
- Tajara pinheiro syndrome - See Pilo dento ungular dysplasia microcephaly
- Takayasu arteritis
- Takayasu disease - See Takayasu arteritis
- Tako tsubo syndrome - See Broken heart syndrome
- Tako-tsubo cardiomyopathy - See Broken heart syndrome
- Tako-tsubo syndrome - See Broken heart syndrome
- Talipes - See Talipes equinovarus - not a rare disease
- Talipes equinovarus - not a rare disease
- Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava - See TARP syndrome
- Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava - See TARP syndrome
- Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome - SeeTARP syndrome
- Talonavicular coalition
- Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
- Tang Hsi Ryu syndrome
- Tangier disease
- TANGO2 - See TANGO2-Related Metabolic Encephalopathy and Arrhythmias
- TANGO2 related disease - See TANGO2-Related Metabolic Encephalopathy and Arrhythmias
- TANGO2-Related Metabolic Encephalopathy and Arrhythmias
- Tanycytic ependymoma (histologic variant) - See Ependymoma
- TAO - See Buerger disease
- TAP 2 deficiency - See Antigen-peptide-transporter 2 deficiency
- TAPVR - See Pulmonary venous return anomaly
- TAPVR1 - See Pulmonary venous return anomaly
- TAR syndrome
- Tardive dyskinesia - not a rare disease
- Tardive dystonia - See Tardive dyskinesia - not a rare disease
- Tardive oral dyskinesia - See Tardive dyskinesia - not a rare disease
- Tarlov cyst - See Tarlov cysts
- Tarlov cysts
- TARP syndrome
- TARPS - See TARP syndrome
- Tarsal carpal coalition syndrome
- Tarsal tunnel syndrome
- Tarui disease - See Glycogen storage disease type 7
- TAT deficiency - See Tyrosinemia type 2
- Tattoo dysplasia - See Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
- TAU syndrome
- Taurodontia, absent teeth, sparse hair syndrome
- Taurodontism
- Taurodontism, microdontia, and dens invaginatus
- Tay syndrome - See Trichothiodystrophy
- Taybi syndrome - See Oto-palato-digital syndrome type 1
- Taybi-Linder syndrome - See Microcephalic osteodysplastic primordial dwarfism type 1
- Tay-Sachs disease
- TAZ defect - See Barth syndrome
- TB - See Tuberculosis
- TB meningitis - See Tuberculous meningitis
- TBC1D24-Related Disorders
- TBCD - See Corneal dystrophy Thiel Behnke type
- TBDN - See Transient bullous dermolysis of the newborn
- TBM - See Tracheobronchomalacia
- TBMN - See Thin basement membrane nephropathy - not a rare disease
- TBS - See Townes-Brocks syndrome
- TCC - See Tarsal carpal coalition syndrome
- TCD - See Choroideremia
- T-cell childhood leukemia - See Pediatric T-cell leukemia
- T-cell immunodeficiency, congenital alopecia and nail dystrophy
- T-cell large granular lymphocyte leukemia - See Large granular lymphocyte leukemia
- T-cell leukemia - See Leukemia, T-cell, chronic
- T-cell lymphoma 1A
- T-cell lymphoma, AILD type - See Angioimmunoblastic T-cell lymphoma
- T-cell/histiocyte rich large B cell lymphoma
- TCL1 - See T-cell lymphoma 1A
- TCL1A - See T-cell lymphoma 1A
- TCN1 deficiency - See Transcobalamin 1 deficiency
- TCO - See Nonmedullary thyroid carcinoma, with or without cell oxyphilia
- TCO 1 - See Nonmedullary thyroid carcinoma, with or without cell oxyphilia
- TCOF - See Treacher Collins syndrome
- TCPT - See Paris-Trousseau thrombocytopenia
- TCS - See Treacher Collins syndrome
- TCS3 - See Treacher Collins syndrome 3
- TD - See Tardive dyskinesia - not a rare disease
- TD2 - See Thanatophoric dysplasia type 2
- TDO syndrome - See Tricho-dento-osseous syndrome
- TDO syndrome 1 - See Tricho-dento-osseous syndrome 1
- TE fistula - See Tracheoesophageal fistula
- TEC - See Transient erythroblastopenia of childhood
- TECPR2 - See Autosomal recessive spastic paraplegia type 49
- Teebi Al-Saleh Hassoon syndrome - See Macrosomia with lethal microphthalmia
- Teebi hypertelorism syndrome - See Brachycephalofrontonasal dysplasia
- Teebi Kaurah syndrome
- Teebi Naguib Al Awadi syndrome
- Teebi Shaltout syndrome
- Teeth noneruption of with maxillary hypoplasia and genu valgum
- Teeth, congenital absence of, with taurodontia and sparse hair - See Taurodontia, absent teeth, sparse hair syndrome
- TEF - See Tracheoesophageal fistula
- Tel Hashomer camptodactyly syndrome
- Telangiectasia - Erythrocytosis - Monoclonal gammopathy - Perinephric-fluid collections - Intrapulmonary shunting - SeeTEMPI syndrome
- Telangiectasia hereditary hemorrhagic type 2 - See Hereditary hemorrhagic telangiectasia type 2
- Telangiectasia hereditary hemorrhagic type 3 - See Hereditary hemorrhagic telangiectasia type 3
- Telangiectasia macularis eruptive perstans
- Telangiectatic cutaneous mastocytosis - See Telangiectasia macularis eruptive perstans
- Telangiectatic membranoproliferative glomerulonephritis - See Glomerulonephritis with sparse hair and telangiectases
- Telecanthus with associated abnormalities - See Opitz G/BBB syndrome
- Telecanthus, hypertelorism, strabismus, and pes cavus syndrome - See Krauss Herman Holmes syndrome
- Telfer Sugar Jaeger syndrome
- Telomeric deletion 4p - See Wolf-Hirschhorn syndrome
- Telomeric duplication 16p - See Chromosome 16p13.3 duplication
- Telomeric monosomy 3p - See Chromosome 3p- syndrome
- TEMPI syndrome
- Temple syndrome
- Temple syndrome due to maternal uniparental disomy of chromosome 14 - See Temple syndrome
- Temple-Baraitser syndrome
- Temporal arteritis - See Giant cell arteritis
- Temporal epilepsy, familial
- Temporomandibular ankylosis
- Temtamy preaxial brachydactyly syndrome
- Temtamy syndrome
- Temtamy type brachydactyly - See Brachydactyly type A4
- Tendon Sheath Adherence, Superior Oblique - See Brown syndrome
- Tendons, extensor, of fingers, anomalous insertion of
- Tenosynovial giant cell tumor - See Pigmented villonodular synovitis
- Tenosynovial giant cell tumors - See Pigmented villonodular synovitis
- Ter Haar syndrome - See Frank Ter Haar syndrome
- Teratoma with malignant transformation
- Terminal transverse defects of hand, unilateral - See Adactylia unilateral
- Terminal transverse defects of the limbs associated with congenital heart malformations - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
- Teschler-Nicola Killian syndrome - See Pallister-Killian mosaic syndrome
- Testicular agenesis - See Anorchia
- Testicular cancer
- Testicular cancer, childhood
- Testicular feminization syndrome (formerly) - See Androgen insensitivity syndrome
- Testicular germ cell tumor
- Testicular germ cell tumor - Another name for Testicular germ cell tumor
- Testicular seminoma
- Testicular seminomatous germ cell tumor - See Testicular seminoma
- Testicular yolk sac tumor
- Testotoxicosis
- Tetanus
- Tethered cord syndrome
- Tethered spinal cord syndrome - See Tethered cord syndrome
- Tetra X - See Tetrasomy X
- Tetra-amelia - See Tetra-amelia syndrome
- Tetraamelia multiple malformations X-linked
- Tetra-amelia syndrome
- Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
- Tetraamelia with pulmonary hypoplasia
- Tetraamelia, autosomal recessive - See Tetra-amelia syndrome
- Tetra-amelia, autosomal recessive - See Tetra-amelia syndrome
- Tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality - See Madokoro Ohdo Sonoda syndrome
- Tetradactyly of both hands, hypoplasia of both fibulas and scapuloiliac hypoplasia - See Walbaum Titran Durieux Crepin syndrome
- Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
- Tetrahydrobiopterin deficiency
- Tetralogy of Fallot
- Tetralogy of fallot and glaucoma
- Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities - See Odontotrichomelic syndrome
- Tetramelic mirror-image polydactyly - See Laurin-Sandrow syndrome
- Tetramelic monodactyly
- Tetramelic monodactyly with autosomal dominant inheritance - See Tetramelic monodactyly
- Tetraphocomelia-cleft palate syndrome - See Roberts syndrome
- Tetraploidy
- Tetraploidy syndrome - See Tetraploidy
- Tetrasomy 12p, mosaic - See Pallister-Killian mosaic syndrome
- Tetrasomy 15q - See Isodicentric chromosome 15 syndrome
- Tetrasomy 18p - See Chromosome 18p tetrasomy
- Tetrasomy 21
- Tetrasomy 9p
- Tetrasomy chromosome 18p - See Chromosome 18p tetrasomy
- Tetrasomy of short arm of chromosome 9 - See Tetrasomy 9p
- Tetrasomy X
- TFP deficiency - See Mitochondrial trifunctional protein deficiency
- TFR2-related hereditary hemochromatosis - See Hemochromatosis type 3
- TGCT - See Pigmented villonodular synovitis
- Thai hemorrhagic fever - See Dengue fever
- Thai symphalangism syndrome
- Thakker-Donnai syndrome
- Thalamic degeneration symmetrical infantile
- Thalamic degeneration, symmetric infantile
- Thalamic hyperesthetic anesthesia - See Central pain syndrome
- Thalamic pain syndrome (former) - See Central pain syndrome
- Thalamic syndrome (former) - See Central pain syndrome
- Thalassemia
- Thalassemia, Hispanic gamma-delta-beta - See Beta-thalassemia
- Thalassemias, beta- - See Beta-thalassemia
- Thalidomide embryopathy - See Fetal thalidomide syndrome
- Thanatophoric Dwarfism - See Thanatophoric dysplasia
- Thanatophoric dwarfism - cloverleaf skull - See Thanatophoric dysplasia type 2
- Thanatophoric dwarfism 1 - See Thanatophoric dysplasia type 1
- Thanatophoric dwarfism type 2 - See Thanatophoric dysplasia type 2
- Thanatophoric dwarfism-cloverleaf skull syndrome - See Thanatophoric dysplasia type 2
- Thanatophoric dysplasia
- Thanatophoric dysplasia torrance variant - See Platyspondylic lethal skeletal dysplasia Torrance type
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Thanatophoric dysplasia type I - See Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type II - See Thanatophoric dysplasia type 2
- Thanatophoric dysplasia with Kleeblattschaedel - See Thanatophoric dysplasia type 2
- THC1 - See X-linked thrombocytopenia
- THC2 - See Thrombocytopenia 2
- Theodor Hertz Goodman syndrome
- Theodores superior limbic keratoconjunctivitis - See Superior limbic keratoconjunctivitis
- Theodores syndrome - See Superior limbic keratoconjunctivitis
- Therapy related acute myeloid leukemia and myelodysplastic syndrome - See Acute myeloid leukemia
- Thiamine deficiency - See Beriberi
- Thiamine metabolism dysfunction syndrome-5 - See Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Thiamine pyrophosphokinase deficiency - See Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Thiamine responsive megaloblastic anemia syndrome
- Thiamine-responsive anemia syndrome - See Thiamine responsive megaloblastic anemia syndrome
- Thiamine-responsive myelodysplasia - See Thiamine responsive megaloblastic anemia syndrome
- Thick lips and oral mucosa - See Acromegaloid facial appearance syndrome
- Thickened earlobes with conductive deafness from incus-stapes abnormalities
- Thickened hair-bearing skin on the palms of both hands - See Hairy palms and soles
- Thiel Behnke corneal dystrophy - See Corneal dystrophy Thiel Behnke type
- Thiemann epiphyseal disease - See Osteoarthropathy of fingers familial
- Thiemann's disease - See Osteoarthropathy of fingers familial
- Thies Reis syndrome - See Progressive deafness with stapes fixation
- Thies-Reis syndrome - See Progressive deafness with stapes fixation
- Thin basement membrane nephropathy - not a rare disease
- Thin membrane nephropathy - See Thin basement membrane nephropathy - not a rare disease
- Thiopurine methyltransferase deficiency - See Thiopurine S methyltranferase deficiency
- Thiopurine S methyltranferase deficiency
- Thiopurines, poor metabolism of - See Thiopurine S methyltranferase deficiency
- THMD5 - See Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Thomas Jewett Raines syndrome - See Microphthalmia microtia fetal akinesia
- Thomas syndrome
- Thomas-Jewett-Raines syndrome - See Microphthalmia microtia fetal akinesia
- Thompson Baraitser syndrome
- Thomsen and Becker disease - See Myotonia congenita
- Thong Douglas Ferrante syndrome - See Short stature deafness neutrophil dysfunction
- Thoracic celosomia
- Thoracic dysplasia hydrocephalus syndrome
- Thoracic outlet syndromes - not a rare disease
- Thoracic pelvic phalangeal dystrophy - See Jeune syndrome
- Thoraco abdominal enteric duplication
- Thoraco limb dysplasia Rivera type
- Thoraco-abdominal syndrome - See Pentalogy of Cantrell
- Thoracolaryngopelvic dysplasia
- Thoraco-limb dysplasia - See Thoracomelic dysplasia
- Thoracomelic dysplasia
- Thoracopelvic dysostosis
- Thost-Unna disease - See Unna-Thost palmoplantar keratoderma
- Thost-Unna palmoplantar keratoderma - See Unna-Thost palmoplantar keratoderma
- THRB - See Generalized resistance to thyroid hormone
- Threadworm Infection - See Strongyloidiasis
- Three day measles - See Rubella
- Three M syndrome - See 3M syndrome
- Three-M slender-boned nanism - See 3M syndrome
- Thrombasthenia
- Thrombasthenia of Glanzmann and Naegeli - See Glanzmann thrombasthenia
- Thromboangiitis obliterans - See Buerger disease
- Thrombocytopathy asplenia miosis
- Thrombocytopenia 1 - See X-linked thrombocytopenia
- Thrombocytopenia 2
- Thrombocytopenia absent radii - See TAR syndrome
- Thrombocytopenia absent radius syndrome - See TAR syndrome
- Thrombocytopenia absent ulnar syndrome - See TAU syndrome
- Thrombocytopenia autosomal dominant 2 - See Thrombocytopenia 2
- Thrombocytopenia cerebellar hypoplasia short stature
- Thrombocytopenia congenital amegakaryocytic - See Congenital amegakaryocytic thrombocytopenia
- Thrombocytopenia cyclic - See Cyclic thrombocytopenia
- Thrombocytopenia Paris-Trousseau type - See Paris-Trousseau thrombocytopenia
- Thrombocytopenia Robin sequence
- Thrombocytopenia with elevated serum IgA and renal disease
- Thrombocytopenia, x-linked - See X-linked thrombocytopenia
- Thrombocytopenia-hemangioma syndrome - See Hemangioma thrombocytopenia syndrome
- Thrombocytopenic purpura autoimmune - See Idiopathic thrombocytopenic purpura
- Thrombomodulin anomalies, familial
- Thrombophilia due to antithrombin III deficiency - See Hereditary antithrombin deficiency
- Thrombophilia due to factor 2 defect - See Prothrombin-related thrombophilia
- Thrombophilia due to protein C deficiency, autosomal recessive - See Autosomal recessive protein C deficiency
- Thrombotic microangiopathy, familial - See Congenital thrombotic thrombocytopenic purpura
- Thrombotic storm - See Catastrophic antiphospholipid syndrome
- Thrombotic thrombocytopenic purpura, acquired
- Thrombotic thrombocytopenic purpura, congenital - See Congenital thrombotic thrombocytopenic purpura
- Thrombotic thrombocytopenic purpura, familial - See Congenital thrombotic thrombocytopenic purpura
- THS - See Tolosa Hunt syndrome
- Thumb absence, hypoplastic halluces - See Miura syndrome
- Thumb absent or hypoplastic - See Thumb deformity
- Thumb absent short stature immune deficiency
- Thumb ankylosis with mental retardation - See Piussan Lenaerts Mathieu syndrome
- Thumb congenital clasped with mental retardation - See Spastic paraplegia 1
- Thumb deformity
- Thumb deformity, alopecia, pigmentation anomaly
- Thumb hypoplastic - See Thumb deformity
- Thumb polydactyly - See Preaxial polydactyly type 1
- Thumb stiff brachydactyly mental retardation
- Thumbs and great toes short and abducted - See Brachydactyly Mononen type
- Thumbs, stiff, with brachydactyly type a1 and developmental delay - See Thumb stiff brachydactyly mental retardation
- Thunderclap headache
- Thurston syndrome - See Orofaciodigital syndrome 5
- Thymic aplasia - See Immune defect due to absence of thymus
- Thymic epithelial tumor
- Thymic-Renal-Anal-Lung dysplasia
- Thymidine phosphorylase deficiency - See Mitochondrial neurogastrointestinal encephalopathy syndrome
- Thymoma, adult - See Thymic epithelial tumor
- Thymoma, childhood
- Thymoma-immunodeficiency syndrome - See Immunodeficiency with thymoma
- Thyrocerebral-retinal syndrome
- Thyrocerebroretinal syndrome - See Thyrocerebral-retinal syndrome
- Thyroglossal duct cysts - See Familial thyroglossal duct cyst
- Thyroglossal duct cysts familial - See Familial thyroglossal duct cyst
- Thyroid agenesis - See Thyroid dysgenesis
- Thyroid cancer, anaplastic - See Anaplastic thyroid cancer
- Thyroid cancer, childhood
- Thyroid cancer, follicular
- Thyroid cancer, follicular, Hurthle cell type - See Hurthle cell thyroid cancer
- Thyroid cancer, Hurthle cell - See Hurthle cell thyroid cancer
- Thyroid cancer, medullary
- Thyroid cancer, pediatric - See Thyroid cancer, childhood
- Thyroid carcinoma, anaplastic - See Anaplastic thyroid cancer
- Thyroid carcinoma, follicular - See Thyroid cancer, follicular
- Thyroid carcinoma, Hurthle cell - See Hurthle cell thyroid cancer
- Thyroid carcinoma, medullary - See Thyroid cancer, medullary
- Thyroid dysgenesis
- Thyroid hormone plasma membrane transport defect
- Thyroid hormone receptor BETA - See Generalized resistance to thyroid hormone
- Thyroid hormone resistance due to T4 plasma membrane transport defect - See Thyroid hormone plasma membrane transport defect
- Thyroid hypoplasia - See Thyroid dysgenesis
- Thyroid, ectopic - See Thyroid dysgenesis
- Thyroiditis, chronic - See Hashimoto's syndrome - not a rare disease
- Thyroid-renal-digital anomalies - See Daneman Davy Mancer syndrome
- Thyroid-stimulating hormone, deficiency of - See Thyrotropin deficiency, isolated
- Thyrotoxic periodic paralysis
- Thyrotropin deficiency, isolated
- TIA - See Aganglionosis, total intestinal
- Tibia absent polydactyly arachnoid cyst
- Tibia vara - See Blount disease
- Tibia, absence of - See Absence of Tibia
- Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies - See Tibia absent polydactyly arachnoid cyst
- Tibiae bowed radial anomalies osteopenia fracture
- Tibial aplasia ectrodactyly hydrocephalus
- Tibial aplasia with split-hand/split-foot deformity - See Cleft hand absent tibia
- Tibial hemimelia - See Absence of Tibia
- Tibial hemimelia cleft lip palate
- Tibial hemimelia- polydactyly- triphalangeal thumbs with fibular dimelia - See Hypoplasia of the tibia with polydactyly
- Tic Douloureux - See Trigeminal neuralgia
- Tick paralysis
- Tick-borne encephalitis
- Tièche-Jadassohn nevus
- Tietz albinism-deafness syndrome - See Tietz syndrome
- Tietz syndrome
- Tietze syndrome
- Tietze's syndrome - See Tietze syndrome
- Tight skin contracture syndrome, lethal
- Tiglic acidemia
- Timothy syndrome
- Tina - See Pinta
- Tinea capitis profunda - See Kerion celsi
- TINU - See Tubulointerstitial nephritis and uveitis
- TINU syndrome - See Tubulointerstitial nephritis and uveitis
- TIO - See Oncogenic osteomalacia
- TKC - See Torticollis keloids cryptorchidism renal dysplasia
- TKCR syndrome - See Torticollis keloids cryptorchidism renal dysplasia
- TLPD - See Thoracolaryngopelvic dysplasia
- T-lymphocyte deficiency - See Immune defect due to absence of thymus
- TMAU - See Trimethylaminuria
- TMAuria - See Trimethylaminuria
- TMBTS - See Temple-Baraitser syndrome
- TMD - See Transient myeloproliferative syndrome
- TMEM165-CDG - See TMEM165-CDG (CDG-IIk)
- TMEM165-CDG (CDG-IIk)
- TMEM70 defect
- TMEM70-related mitochondrial encephalo-cardio-myopathy - See TMEM70 defect
- TMJ Ankylosis - See Temporomandibular ankylosis
- TNDM - See Transient neonatal diabetes mellitus
- TNDM1 - See Transient neonatal diabetes mellitus
- TNF receptor-associated periodic fever syndrome - See Tumor necrosis factor receptor-associated periodic syndrome
- TNF receptor-associated periodic syndrome - See Tumor necrosis factor receptor-associated periodic syndrome
- TNS - See Witkop syndrome
- TNX deficiency - See Classical-like Ehlers-Danlos syndrome
- TOC - See Tylosis with esophageal cancer
- TODV syndrome - See Arthrogryposis and ectodermal dysplasia
- Toe syndactyly, telecanthus, anogenital and renal malformations - See STAR syndrome
- TOF - See Tetralogy of Fallot
- Togaviridae disease
- Togaviridae infection - See Togaviridae disease
- Togavirus infections - See Togaviridae disease
- Tollner Horst Manzke syndrome
- Tolosa Hunt syndrome
- Tolosa-Hunt syndrome - See Tolosa Hunt syndrome
- Toluene embryopathy - See Hersh Podruch Weisskopk syndrome
- Tomaculous neuropathy - See Hereditary neuropathy with liability to pressure palsies
- Tongue cancer
- Tongue carcinoma - See Tongue cancer
- Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG - See West syndrome
- Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes - See Adie syndrome
- Toni-Debre-Fanconi syndrome - See Fanconi syndrome
- Tonoki ohura niikawa syndrome - See Cryptomicrotia brachydactyly syndrome
- Tonoki syndrome
- Tooth and nail syndrome - See Witkop syndrome
- TORCH syndrome
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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