List of rare diseases-R
From WikiMD's Food, Medicine & Wellness Encyclopedia
NIH genetic and rare disease info[edit source]
List of rare diseases-R is a rare disease.
- R1
- R10
- R11
- R12
- R13
- R15
- R16
- R17
- R18
- R19
- R2
- R20
- R21
- R22
- R3
- R4
- R5
- R6
- R7
- R8
- R9
- Rabbit fever
- Rabies
- Rabson-Mendenhall syndrome
- Rachischisis
- Radial and patellar aplasia
- Radial and patellar hypoplasia
- Radial aplasia, X-linked
- Radial defect Robin sequence
- Radial ray agenesis
- Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
- Radial ray hypoplasia and choanal atresia
- Radial ray hypoplasia choanal atresia
- Radial-ulnar hypoplasia with bone marrow failure and/or leukemia
- Radial-ulnar synostosis
- Radiation induced angiosarcoma of the breast
- Radiation induced brachial neuritis
- Radiation induced brachial plexopathy
- Radiation induced cancer
- Radiation induced meningioma
- Radiation injury to the brachial plexus
- Radiation related cancer
- Radicular dentin dysplasia
- Radio renal syndrome
- Radio-renal syndrome
- Radioulnar synostosis
- Radio-ulnar synostosis
- Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula
- Radio-ulnar synostosis type 1
- Radio-ulnar synostosis type 2
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Radius absent anogenital anomalies
- RAE
- RAEB
- RAF1 gene related Noonan syndrome
- Ragpicker's disease
- Rahman syndrome
- Raine syndrome
- Rambam-Hasharon syndrome
- Ramer Ladda syndrome
- Ramon Syndrome
- Ramos Arroyo Clark syndrome
- Ramos-Arroyo syndrome
- Ramsay Hunt cerebellar syndrome
- Ramsay Hunt syndrome
- Ramsay Hunt syndrome type 1 (formerly)
- Ramsay Hunt syndrome type 2 (formerly)
- RAMSVPS
- Rapadilino syndrome
- Raphe, supraumbilical midline, with cavernous facial hemangiomas
- Rapidly progressive glomerulonephritis with pulmonary hemorrhage
- Rapid-onset dystonia-parkinsonism
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
- Rare adenocarcinoma of the breast
- Rare bone tumor
- Rare form of Hirschsprung's disease
- Rare intellectual disability without developmental anomaly
- Rare lichen planus
- Rare LP
- Rare non-syndromic intellectual deficiency - Another name for Rare intellectual disability without developmental anomaly
- Rare non-syndromic intellectual disability - Another name for Rare intellectual disability without developmental anomaly
- Rare NSID - Another name for Rare intellectual disability without developmental anomaly
- Rare tumor of cranial and spinal nerves
- Rare tumor of liver and intrahepatic biliary tract
- RARS
- Rasmussen encephalitis
- Rasmussen Johnsen Thomsen syndrome
- Rasmussen syndrome
- Rat bite fever
- Rathburn disease
- Rathke's pouch tumor
- RB
- RBCD
- RBS
- RCAD
- RCC4
- RCCP
- RCD1
- RCD2
- RCD3A
- RCD3B
- RCD4
- RCDP
- RCDP1
- RCDP2
- RCDP3
- RCL
- RCRD2
- RCUD
- RCVS
- RD
- RDC
- RDD
- RDEB generalisata gravis
- RDEB generalisata mitis
- RDEB, generalized intermediate
- RDEB, Hallopeau-Siemens type
- RDEB, non-Hallopeau-Siemens type
- RDEB, severe generalized
- RDEB-generalized other
- RDEB-O
- RDEB-sev gen
- RDP
- RDPA
- RDS - infants
- RE
- Reactive angioendotheliomatosis
- Reactive arthritis
- REAR syndrome
- Reardon Wilson Cavanagh syndrome
- Reardon-Hall-Slaney syndrome
- Rec8 syndrome
- Recessive aplasia cutis congenita of the limbs
- Recessive ataxia of Beauce
- Recessive dystrophic epidermolysis bullosa
- Recessive dystrophic epidermolysis bullosa, generalized intermediate
- Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
- Recessive dystrophic epidermolysis bullosa, severe generalized
- Recessive dystrophic epidermolysis bullosa-generalized other
- Recessive microcephaly with spastic quadriplegia
- Recessive pseudoachondroplasia
- Recessive spastic paraplegia with retinal degeneration
- Recklinghausen's disease
- Recombinant chromosome 8 syndrome
- Recurrent acute necrotizing encephalopathy
- Recurrent duplication of 17q12
- Recurrent encephalophathy of childhood
- Recurrent familial intrahepatic cholestasis 1
- Recurrent familial intrahepatic cholestasis 2
- Recurrent hydatidiform mole
- Recurrent infection due to specific granule deficiency
- Recurrent intrahepatic cholestasis of pregnancy
- Recurrent laryngeal papillomatosis (subtype)
- Recurrent meningitis
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Recurrent peripheral facial palsy
- Recurrent polychondritis
- Recurrent polyserositis
- Recurrent respiratory papillomatosis
- Recurrent Scarring Aphthae
- Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
- Recurrent trigger thumb (type)
- Red cell aldolase deficiency
- Red cell aplasia, pure hereditary
- Red cell phospholipid defect with hemolysis
- Red skin pigment anomaly of New Guinea
- Red skin pigment, New Guinea type
- Reducing body myopathy
- Reed's syndrome
- Reese retinal dysplasia
- Refetoff syndrome
- Reflex sympathetic dystrophy
- Refractory anemia with excess blasts
- Refractory anemia with ringed sideroblasts
- Refractory cytopenia with unilineage dysplasia
- Refractory macrocytic anemia due to 5q deletion
- Refrigeration palsy
- Refsum disease
- Refsum disease with increased pipecolic acidemia
- Refsum disease, infantile form
- Regional choroidal atrophy and alopecia
- Regressive metaphyseal dysplasia
- Reifenstein syndrome, partial
- Reis Bucklers corneal dystrophy
- Reis Bucklers dystrophy
- Reiter syndrome
- Reiter's syndrome
- Relapsing polychondritis
- Remitting seronegative symmetrical synovitis with pitting edema
- Remnant removal disease
- Renal adenocarcinoma
- Renal agenesis
- Renal and anogenital malformations with syndactyly
- Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly
- Renal caliceal diverticuli deafness
- Renal Cell Adenocarcinoma
- Renal cell carcinoma
- Renal cell carcinoma 4
- Renal collecting duct carcinoma
- Renal coloboma syndrome
- Renal cysts and diabetes
- Renal cysts and diabetes syndrome
- Renal dysplasia diffuse cystic
- Renal dysplasia limb defects syndrome
- Renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction
- Renal dysplasia retinal aplasia
- Renal dysplasia, megalocystis, and sirenomelia
- Renal dysplasia, mesomelia, and radiohumeral fusion
- Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
- Renal dysplasia-limb defects syndrome
- Renal failure and sensorineural hearing loss
- Renal Fanconi syndrome with nephrocalcinosis and renal stones
- Renal genital middle ear anomalies
- Renal glucosuria
- Renal glycosuria
- Renal hamartomas, nephroblastomatosis, and fetal gigantism
- Renal histidinuria
- Renal hypomagnesemia 2
- Renal hypomagnesemia type 2
- Renal hypomagnesemia-6
- Renal hypouricemia
- Renal medullary carcinoma
- Renal nutcracker syndrome
- Renal oncocytoma
- Renal pelvis and ureter, transitional cell cancer
- Renal PHA1
- Renal pseudohypoaldosteronism type 1
- Renal rickets
- Renal tubular acidosis
- Renal tubular acidosis 1
- Renal tubular acidosis progressive nerve deafness
- Renal tubular acidosis type 1b
- Renal tubular acidosis type I
- Renal tubular acidosis with deafness
- Renal tubular acidosis with progressive nerve deafness
- Renal tubular acidosis, autosomal recessive with preserved hearing
- Renal tubular acidosis, autosomal recessive, with progressive nerve deafness
- Renal tubular acidosis, distal, autosomal dominant
- RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED
- Renal tubular acidosis, distal, type 3
- RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED
- Renal tubular acidosis, distal, with progressive nerve deafness
- Renal tubular dysgenesis
- Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
- Renal-ear-anal-radial syndrome
- Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
- Renal-retinal syndrome
- REN-associated familial juvenile hyperuricemic nephropathy
- REN-associated FJHN
- REN-associated kidney disease
- REN-associated kidney disease)
- Rendu-Osler-Weber disease
- Renier Gabreels Jasper syndrome
- Renoprival hypertension
- Renpenning syndrome 1
- RENS1
- Resistance to thyroid stimulating hormone
- Respiratory distress syndrome, adult
- Respiratory distress syndrome, infant
- Respiratory papillomatosis, recurrent
- Restless leg syndrome- not a rare disease.
- Restless legs syndrome- not a rare disease.
- Restless legs syndrome, susceptibility to, 1
- Restless legs syndrome, susceptibility to, 2
- Restless legs syndrome, susceptibility to, 3
- Restless legs syndrome, susceptibility to, 4
- Restless legs syndrome, susceptibility to, 5
- Restless legs syndrome, susceptibility to, 6
- Restrictive dermopathy, lethal
- Retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities
- Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
- Reticular dysgenesis
- Reticular pigment anomaly of flexures
- Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
- Reticulate acropigmentation of Dohi
- Reticulate acropigmentation of Kitamura
- Reticulate hyperpigmentation of Iijima
- Reticuloendotheliosis
- Reticuloendotheliosis familial with eosinophilia
- Reticuloendotheliosis, X-linked
- Reticulohistiocytoma
- Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- Retinal blindness, congenital
- Retinal cancer
- Retinal Coloboma
- Retinal cone dystrophy 1
- Retinal cone dystrophy 2
- Retinal cone dystrophy 3A
- Retinal cone dystrophy 3B
- Retinal cone dystrophy 4
- Retinal cone-rod dystrophy 2
- Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
- Retinal degeneration, autosomal recessive, prominin-related
- Retinal degeneration, late-onset, autosomal dominant
- Retinal degeneration, nanophthalmos, glaucoma
- Retinal detachment-occipital encephalocele syndrome
- Retinal dysplasia X-linked
- Retinal pigment epithelial dystrophy central
- Retinal pigmentary degeneration, microcephaly, and severe mental retardation
- Retinal telangiectasia associated with hypogammaglobulinemia
- Retinal telangiectasis
- Retinal tumor
- Retinal vasculopathy and cerebral leukoencephalopathy
- Retinal vasculopathy and cerebral leukoencephalopathy
- Retinal vasculopathy with cerebral leukodystrophy
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Retinitis pigmentosa
- Retinitis pigmentosa 1
- Retinitis Pigmentosa 11
- Retinitis pigmentosa 12
- Retinitis Pigmentosa 13
- Retinitis Pigmentosa 14
- Retinitis Pigmentosa 15
- Retinitis Pigmentosa 17
- Retinitis Pigmentosa 18
- Retinitis Pigmentosa 19
- Retinitis pigmentosa 2, X-linked
- Retinitis Pigmentosa 20
- Retinitis pigmentosa 21, formerly
- Retinitis Pigmentosa 22
- Retinitis Pigmentosa 23
- Retinitis Pigmentosa 24
- Retinitis Pigmentosa 25
- Retinitis Pigmentosa 26
- Retinitis Pigmentosa 28
- Retinitis pigmentosa 29
- Retinitis pigmentosa 3
- Retinitis Pigmentosa 30
- Retinitis Pigmentosa 31
- Retinitis Pigmentosa 32
- Retinitis Pigmentosa 33
- Retinitis Pigmentosa 34
- Retinitis Pigmentosa 35
- Retinitis Pigmentosa 36
- Retinitis Pigmentosa 4
- Retinitis Pigmentosa 41
- Retinitis Pigmentosa 6
- Retinitis Pigmentosa 7
- Retinitis pigmentosa 8, formerly
- Retinitis Pigmentosa 9
- Retinitis pigmentosa and congenital deafness
- Retinitis pigmentosa syndrome
- Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia
- Retinitis pigmentosa-deafness syndrome
- Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
- Retinoblastoma
- Retinochoroidal coloboma
- Retinocochleocerebral vasculopathy
- Retinohepatoendocrinologic syndrome
- Retinol Deficiency
- Retinopathy aplastic anemia neurological abnormalities
- Retinopathy of prematurity
- Retinopathy pigmentary mental retardation
- Retinopathy, arteriosclerotic
- Retinopathy, Burgess-Black type
- Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
- Retinoschisis autosomal dominant
- Retinoschisis juvenile X chromosome-linked
- Retinoschisis of Fovea
- Retinoschisis with early hemeralopia
- Retinoschisis X-linked
- Retractile mesenteritis
- Retrolental fibroplasia
- Retrolenticular syndrome
- Retroperitoneal cystic lymphangioma
- Retroperitoneal fibrosis
- Retroperitoneal fibrosis, familial
- Retroperitoneal liposarcoma
- Rett like syndrome
- Rett syndrome
- Rett syndrome variant
- Reversible Berylliosis
- Reversible cerebral vasoconstriction syndrome
- Reversible cortical blindness
- Revesz syndrome
- Reye syndrome
- Reye's Syndrome
- Reynolds syndrome
- RFT1-CDG
- RFT1-CDG (CDG-In)
- RF-ve CP
- RGNT
- Rh deficiency syndrome
- Rhabditida Infections
- Rhabdoid sarcoma
- Rhabdoid tumor
- RHABDOID TUMOR PREDISPOSITION SYNDROME 1
- Rhabdoid tumor predisposition syndrome 2
- Rhabdomyomatous mesenchymal hamartoma
- Rhabdomyosarcoma alveolar
- Rhabdomyosarcoma embryonal
- Rheumatic chorea
- Rheumatic Fever
- Rheumatoid arthritis, splenomegaly and neutropenia
- Rheumatoid factor negative erosive chronic polyarthritis
- Rheumatoid factor-negative polyarthritis
- Rheumatoid nodulosis
- Rheumatoid vasculitis
- Rhizomelic chondrodysplasia punctata
- Rhizomelic chondrodysplasia punctata
- Rhizomelic chondrodysplasia punctata type 1
- Rhizomelic chondrodysplasia punctata type 2
- Rhizomelic chondrodysplasia punctata type 3
- Rhizomelic chondrodysplasia punctata, type 3
- Rhizomelic dysplasia Patterson Lowry type
- Rhizomelic dysplasia, familial
- Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- Rhizomelic pseudopolyarthritis
- Rhizomelic shortness with clavicular defect
- Rhizomelic syndrome
- Rh-null syndrome
- RHOBTB2 missense variants
- RHOBTB2-related developmental and epileptic encephalopathy
- RHYNS syndrome
- RIA
- Rib gap defects with micrognathia
- Ribbing disease
- Riboflavin transporter deficiency
- Ribonucleic acid polymerase III-related leukodystrophy
- Rice-field fever
- Richardson-Kirk syndrome
- Richards-Rundle syndrome
- Richieri Costa Da Silva syndrome
- Richieri Costa Gorlin syndrome
- Richieri Costa Pereira syndrome
- Richieri Costa-da Silva syndrome
- Richieri-Costa and Pereira form of acrofacial dysostosis
- Richieri-Costa Guion-Almeida Cohen syndrome
- Richner Hanhart syndrome
- Richter syndrome
- Richter transformation
- Ricker syndrome
- Rickets
- RI-CMT
- RI-CMT type A
- RI-CMT type B
- RI-CMTB
- RICP
- Ridges-off-the-end syndrome
- Rieger syndrome
- Rienhoff syndrome
- Right atrium familial dilatation
- Right bundle branch block, ST segment elevation, and sudden death syndrome
- Right ventricle hypoplasia
- Right ventricular hypoplasia
- Rigid spine muscular dystrophy-1
- Rigid spine syndrome
- Riley Day syndrome
- Riley-Smith syndrome
- Rimmed vacuole myopathy
- Ring 1
- Ring 10
- Ring 11
- Ring 12
- Ring 13
- Ring 14
- Ring 15
- Ring 16
- Ring 17
- Ring 18
- Ring 19
- Ring 2
- Ring 20
- Ring 21
- Ring 22
- Ring 3
- Ring 4
- Ring 5
- Ring 6
- Ring 7
- Ring 8
- Ring 9
- Ring and little finger syndactyly
- Ring chromosome 1
- Ring chromosome 10
- Ring chromosome 11
- Ring chromosome 12
- Ring chromosome 13
- Ring chromosome 14
- Ring chromosome 14 syndrome
- Ring chromosome 15
- Ring chromosome 16
- Ring chromosome 17
- Ring chromosome 18
- Ring chromosome 19
- Ring chromosome 2
- Ring chromosome 20
- Ring chromosome 20 syndrome
- Ring chromosome 21
- Ring chromosome 22
- Ring chromosome 3
- Ring chromosome 4
- Ring chromosome 5
- Ring chromosome 6
- Ring chromosome 7
- Ring chromosome 8
- Ring chromosome 9
- Ring dermoid of cornea
- Ring dermoid syndrome
- Ringed hair
- Ringed hair disease
- Ripperger Aase syndrome
- Rippling muscle disease
- Rippling muscle disease, 1
- Ritscher Schinzel syndrome
- Ritscher-Schinzel cranio-cerebello-cardiac syndrome
- River blindness
- Rivera Perez Salas syndrome
- RL syndrome
- RLS 4
- RLS 5
- RLS1
- RLS2
- RLS3
- RLS6
- RMCH1 (formerly)
- RMCH2
- RMD
- RMD1
- RMH
- RMSF
- RMSS
- RNAse T2-deficient leukoencephalopathy
- RNASEH2A-related Aicardi-Goutieres syndrome
- RNASEH2B-related Aicardi-Goutieres syndrome
- RNASEH2C -related Aicardi-Goutieres syndrome
- RNS
- Roberts syndrome
- Roberts syndrome/SC phocomelia
- Roberts tetraphocomelia syndrome
- Roberts-SC phocomelia syndrome
- Robin sequence and oligodactyly
- Robin sequence with cleft mandible and limb anomalies
- Robin sequence with facial and digital anomalies
- Robinow dwarfism
- Robinow syndrome
- Robinow-Silverman-Smith syndrome
- Robinow-Unger syndrome
- Robinson Miller Bensimon syndrome
- Robinson-Miller-Bensimon syndrome
- Robles' disease
- ROCA
- Rocher-Sheldon syndrome
- Roch-Leri mesosomatous lipomatosis
- Roch-Leri syndrome
- Rock fever
- Rocker bottom foot
- Rocker-bottom foot deformity
- Rocky mountain spotted fever
- Rod body disease
- Rod monochromacy 1 (formerly)
- Rod monochromacy 2
- Rod monochromatism 1 (formerly)
- Rod monochromatism 2
- Rod myopathy
- Rod-body myopathy
- Rodrigues blindness
- Rodriguez lethal acrofacial dysostosis syndrome
- Rogers syndrome
- ROHHAD
- Roifman syndrome
- Rokitansky sequence
- Rokitansky syndrome
- Rokitansky-Aschoff sinuses
- Rokitansky-Aschoff sinuses of the gallbladder
- Romano-Ward syndrome
- Romberg hemi-facial atrophy
- Rombo syndrome
- Rommen Mueller Sybert syndrome
- Rootless teeth
- ROP
- Rosai-Dorfman disease
- Rosaï-Dorfman disease
- Rose gardener's disease
- Rosenberg Lohr syndrome
- Rosenberg-Chutorian syndrome
- Rosenthal factor deficiency
- Rosenthal syndrome
- Rosenthal-Kloepfer syndrome
- Rosette-Forming Glioneuronal Tumor
- Rossi syndrome
- Rothmund-Thomson syndrome
- Rotor syndrome
- Rotor-type hyperbilirubinemia
- Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development
- Round-headed sperm syndrome
- Roussy Levy hereditary areflexic dystasia
- Roussy Levy syndrome
- Roussy-Levy disease
- Rowley-Rosenberg syndrome
- Roy Maroteaux Kremp syndrome
- Rozin Hertz Goodman syndrome
- RP
- RP 11
- RP 12
- RP 13
- RP 14
- RP 15
- RP 17
- RP 18
- RP 19
- RP 2
- RP 20
- RP 22
- RP 23
- RP 24
- RP 25
- RP 26
- RP 28
- RP 29
- RP 30
- RP 31
- RP 32
- RP 33
- RP 34
- RP 35
- RP 36
- RP 4
- RP 41
- RP 6
- RP 7
- RP 9
- RP1
- RP21, formerly
- RP3
- RP8, formerly
- RRM2B-related mitochondrial DNA depletion syndrome
- RRP
- RRS
- RS
- RS3PE
- RSH syndrome
- RSMD1
- RSS
- RS-SCID
- RSTS
- RTA with progressive nerve deafness
- RTA, bicarbonate-wasting type
- RTA, classic type
- RTA, dislocation type
- RTA, distal type, autosomal dominant
- RTA, distal, autosomal recessive
- RTA, gradient type
- RTADR
- RTD
- RTS
- Rubella
- Rubella congenital
- Rubeola
- Rubinstein syndrome
- Rubinstein Taybi like syndrome
- Rubinstein-Taybi syndrome
- Rud Syndrome
- Rudd-Klimek syndrome
- Rudiger syndrome 1
- Rufous OCA
- Rufous oculocutaneous albinism
- Rumination disorder
- Rumination syndrome
- RUNX1 FPD/AML
- Russell diencephalic cachexia
- Russell Silver syndrome
- Russell syndrome
- Russell Weaver Bull syndrome
- Russell-Silver syndrome
- Rutherfurd syndrome
- Rutledge lethal multiple congenital anomaly syndrome
- Ruvalcaba Churesigaew Myhre syndrome
- Ruvalcaba -Myhre-Smith syndrome
- Ruvalcaba syndrome
- Ruzicka Goerz Anton syndrome
- RVCL
- RVCL
- RVCL-S
- RVCL-S
- Ryukyuan muscular atrophy
NIH genetic and rare disease info[edit source]
List of rare diseases-R is a rare disease.
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