orphafolder

| 519284 | Rare disorder of the anterior segment of the eye
| 519286 | Rare disorder of the pupil
| 519280 | Rare conjunctivitis
| 519282 | Rare corneal disorder
| 519276 | Anterior segment developmental abnormality with extraocular manifestations
| 519278 | Infective keratitis
| 514980 | ATP13A2-related parkinsonism
| 525677 | Genetic congenital malformation of the eye with glaucoma as a major feature
| 525731 | Pediatric-onset Graves disease
| 525738 | Prepubertal anorexia nervosa
| 522584 | Rare genetic choroidal disorder
| 523000 | Pediatric-onset glaucoma
| 522574 | Rare genetic macular disorder
| 522576 | Rare genetic retinal vasculopathy
| 522578 | Rare genetic disorder involving multiple structures of the eye
| 522580 | Secondary early-onset glaucoma of genetic origin
| 522568 | Rare genetic disorder of the pupil
| 522566 | Rare genetic inflammatory/autoimmune corneal disorder
| 522572 | Rare genetic retinal disorder
| 522570 | Rare genetic disorder of the posterior segment of the eye
| 522560 | Genetic corneal dystrophy
| 522558 | Rare genetic disorder with corneal involvement as a major feature
| 522564 | Syndromic genetic keratoconus
| 522562 | Genetic superficial corneal dystrophy
| 522552 | Lens position anomaly of genetic origin
| 522550 | Lens size anomaly of genetic origin
| 522556 | Rare genetic corneal disorder
| 522554 | Syndromic genetic ectopia lentis
| 522544 | Rare genetic conjunctivitis
| 522542 | Rare genetic disorder with conjunctival involvement as a major feature
| 522548 | Syndromic genetic cataract
| 522546 | Rare genetic disorder with lens opacification
| 522538 | Rare genetic disorder of the anterior segment of the eye
| 522540 | Anterior segment developmental anomaly of genetic origin
| 522534 | Lacrimal drainage system anomaly of genetic origin
| 522536 | Structural developmental eye defect of genetic origin
| 522530 | Rare genetic disorder with entropion
| 522532 | Rare genetic disorder of the lacrimal apparatus
| 522526 | Rare genetic palpebral disorder
| 522528 | Rare genetic eyelid malposition disorder
| 522522 | Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
| 522524 | Rare genetic disorder of the ocular adnexa
| 522518 | Rare genetic disorder with strabismus
| 522520 | Syndromic genetic disorder with strabismus
| 522514 | Congenital optic disc excavation of genetic origin
| 522516 | Rare genetic ocular motility/alignment disorder
| 522510 | Rare genetic ophthalmic disorder with cranial nerve involvement
| 522512 | Rare genetic optic nerve disorder
| 522508 | Rare genetic ophthalmic disorder with cortical involvement
| 522506 | Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
| 522504 | Rare genetic disorder of the visual organs
| 522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
| 522043 | Syndromic autoimmune enteropathy
| 522037 | Primary autoimmune enteropathy
| 521450 | LAMA5-related multisystemic syndrome
| 521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
| 521438 | Congenital vertebral-cardiac-renal anomalies syndrome
| 521432 | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
| 521426 | PLAA-associated neurodevelopmental disorder
| 521414 | Autosomal dominant Charcot-Marie-Tooth disease type 2DD
| 521258 | Xq25 microduplication syndrome
| 521305 | Proximal myopathy with focal depletion of mitochondria
| 521308 | Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
| 521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
| 521406 | Dystonia-parkinsonism-hypermanganesemia syndrome
| 521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
| 520820 | Progressive external ophthalmoplegia
| 521123 | Radiation-induced plexopathy
| 521127 | Osteoradionecrosis of the mandible
| 521132 | Radiation-induced disorder
| 521219 | Mirizzi syndrome
| 521232 | Genetic primary orthostatic disorder
| 521236 | Primary orthostatic disorder
| 520817 | Isolated inherited retinal disorder
| 520814 | Rare disorder of the visual organs
| 519930 | Fungal keratitis
| 528105 | Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
| 528091 | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
| 528084 | Non-specific syndromic intellectual disability
| 527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
| 527450 | Severe myopia-generalized joint laxity-short stature syndrome
| 527468 | Diaphragmatic hernia-short bowel-asplenia syndrome
| 527276 | Encephalopathy due to mitochondrial and peroxisomal fission defect
| 529962 | 17q24.2 microdeletion syndrome
| 529864 | Secondary erythromelalgia
| 529852 | Combined hepatocellular carcinoma and cholangiocarcinoma
| 529831 | Letrozole toxicity
| 529828 | Enzalutamide toxicity
| 529825 | Resistance to colchicine
| 529808 | Chronic bilirubin encephalopathy
| 529799 | Acute bilirubin encephalopathy
| 529980 | NFAT5 deficiency
| 530033 | Dermoid or epidermoid cyst of the central nervous system
| 529974 | Immune dysregulation with inflammatory bowel disease
| 529977 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
| 529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
| 529970 | Male infertility due to acephalic spermatozoa
| 529468 | Monoclonal mast cell activation syndrome
| 529574 | Duane retraction syndrome with congenital deafness
| 529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

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