orphafolder

| 476109 | Axonal hereditary motor and sensory neuropathy
| 476113 | Combined immunodeficiency due to TFRC deficiency
| 476123 | Intermediate Charcot-Marie-Tooth disease
| 476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
| 476406 | Congenital generalized hypercontractile muscle stiffness syndrome
| 476394 | PMP2-related Charcot-Marie-Tooth disease type 1
| 476403 | Hypercontractile muscle stiffness syndrome
| 493342 | Vibratory urticaria
| 493348 | Vibratory angioedema
| 488642 | TELO2-related intellectual disability-neurodevelopmental disorder
| 488647 | DDX41-related hematologic malignancy predisposition syndrome
| 488650 | Distal myopathy, Tateyama type
| 488618 | Transketolase deficiency
| 488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
| 488632 | TBCK-related intellectual disability syndrome
| 488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome
| 488265 | Osteofibrous dysplasia
| 488239 | Acute macular neuroretinopathy
| 488232 | Split-foot malformation-mesoaxial polydactyly syndrome
| 488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W
| 488280 | 14q32 duplication syndrome
| 488586 | Congenital amyoplasia
| 488437 | SIX2-related frontonasal dysplasia
| 488434 | Camptodactyly syndrome, Guadalajara type 3
| 488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
| 488594 | Autosomal recessive spastic paraplegia type 76
| 488197 | Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
| 488168 | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
| 488191 | Female infertility due to oocyte meiotic arrest
| 487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
| 487814 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
| 487809 | Pediatric collagenous gastritis
| 487825 | Pierpont syndrome
| 486955 | Rare pediatric rheumatologic disease
| 476084 | Autosomal recessive limb-girdle muscular dystrophy type 2X
| 476096 | Erythrokeratodermia-cardiomyopathy syndrome
| 476102 | Hereditary pediatric Behçet-like disease
| 476093 | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
| 471383 | Genetic lethal multiple congenital anomalies/dysmorphic syndrome
| 474347 | Rare congenital anomaly of ventricular septum
| 65250 | Perineural cyst
| 530849 | Adult-onset familial chylomicronemia syndrome
| 530838 | KRT1-related diffuse nonepidermolytic keratoderma
| 530792 | RELA fusion-positive ependymoma
| 530313 | PIK3CA-related overgrowth syndromes
| 530303 | Progressive dementia with neuroserpin inclusion bodies
| 530298 | Progressive myoclonic epilepsy with neuroserpin inclusion bodies
| 519392 | Isolated iridoschisis
| 519390 | Isolated blepharochalasis
| 519396 | Isolated microspherophakia
| 519394 | Isolated microphakia
| 519384 | Congenital cystic eye
| 519388 | Autosomal recessive anterior segment dysgenesis
| 519386 | Isolated congenital entropion
| 519408 | Mooren ulcer
| 519406 | Thygeson superficial punctate keratopathy
| 519410 | Terrien marginal degeneration
| 519400 | Peripapillary staphyloma
| 519398 | Isolated foveal hypoplasia
| 519404 | Optic disc pit
| 519402 | Isolated megalopapilla
| 519333 | Congenital optic disc excavation
| 519337 | Disorder with optic nerve compression
| 519339 | Pseudopapilledema
| 519325 | Syndromic inherited retinal disorder
| 519327 | Syndromic vitreoretinopathy
| 519329 | Rare disorder involving multiple structures of the eye
| 519331 | Secondary early-onset glaucoma
| 519349 | Rare ophthalmic disorder with cranial nerve involvement
| 519351 | Rare optic nerve disorder
| 519353 | Rare trochlear nerve disorder
| 519355 | Rare ocular motility/alignment disorder
| 519341 | Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
| 519343 | Rare ophthalmic disorder with cortical involvement
| 519345 | Rare disorder with optic disc malformation
| 519347 | Rare neuromuscular disorder with ocular motility/alignment anomaly
| 519306 | Isolated progressive inherited retinal disorder
| 519304 | Isolated vitreoretinopathy
| 519302 | Isolated macular dystrophy
| 519300 | Isolated chorioretinal dystrophy
| 519298 | Rare scleral disorder
| 519296 | Rare disorder with pigmented sclera
| 519294 | Syndromic microspherophakia
| 519292 | Syndromic ectopia lentis
| 519323 | Syndromic macular dystrophy
| 519321 | Syndromic chorioretinal dystrophy
| 519319 | Isolated stationary inherited retinal disorder
| 519317 | Rare retinal vasculopathy
| 519315 | Rare retinal disorder
| 519313 | Rare macular disorder
| 519311 | Rare disorder of the posterior segment of the eye
| 519309 | Rare choroidal disorder
| 519272 | Structural developmental eye defect
| 519274 | Syndromic lacrimal system disorder
| 519268 | Rare disorder with ectropion
| 519270 | Rare disorder with entropion
| 519264 | Inflammatory/autoimmune disorder involving the lacrimal system
| 519266 | Rare disorder of the ocular adnexa
| 519288 | Rare disorder with corneal involvement as a major feature
| 519290 | Rare inflammatory/autoimmune corneal disorder

« Til de 100 forrige Til de 100 næste » 1 ... 92 93 94 95 96 97

Handlinger tilknyttet webside

Send this