orphafolder

| 508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
| 508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
| 508410 | Familial intestinal malrotation
| 508512 | Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
| 508529 | Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
| 508523 | Hyperphenylalaninemia due to DNAJC12 deficiency
| 508488 | 8q24.3 deletion syndrome
| 508476 | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
| 508501 | Oral-facial-digital syndrome with short stature and brachymesophalangy
| 508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
| 505652 | CDKL5-related epileptic encephalopathy
| 506784 | Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
| 506334 | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
| 506307 | Stromme syndrome
| 506358 | Gabriele-de Vries syndrome
| 506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
| 506136 | Neuroendocrine neoplasm of esophagus
| 506090 | Serotonin-producing neuroendocrine tumor of pancreas
| 506098 | Neuroendocrine carcinoma of pancreas
| 506112 | Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas
| 506052 | Neuroendocrine neoplasm of pancreas
| 506060 | Functioning neuroendocrine tumor of pancreas
| 506075 | Non-functioning neuroendocrine tumor of pancreas
| 495274 | Charcot-Marie-Tooth disease type 2T
| 495844 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
| 495818 | 9q33.3q34.11 microdeletion syndrome
| 495879 | Congenital agenesis of the scrotum
| 495875 | Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
| 495930 | Familial monosomy 7 syndrome
| 496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
| 496686 | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
| 496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
| 496693 | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
| 496751 | EVEN-plus syndrome
| 496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
| 496790 | Optic atrophy-peripheral neuropathy-developmental delay syndrome
| 494433 | MIRAGE syndrome
| 494439 | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
| 494424 | Extracranial carotid artery aneurysm
| 494428 | Idiopathic pleuroparenchymal fibroelastosis
| 494451 | Vulvar basal cell carcinoma
| 494454 | Vulvar adenocarcinoma
| 494444 | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
| 494448 | Vulvar squamous cell carcinoma
| 494344 | RERE-related neurodevelopmental syndrome
| 494418 | Vulvar carcinoma
| 494421 | Sacrococcygeal teratoma
| 494348 | Early-onset familial noncirrhotic portal hypertension
| 494547 | Squamous cell carcinoma of the hypopharynx
| 494541 | Childhood-onset benign chorea with striatal involvement
| 494526 | Infantile-onset generalized dyskinesia with orofacial involvement
| 494457 | Rare hyperkinetic movement disorder
| 494550 | Squamous cell carcinoma of the larynx
| 500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
| 500188 | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
| 500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
| 500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
| 500163 | SIN3A-related intellectual disability syndrome
| 500166 | SIN3A-related intellectual disability syndrome due to a point mutation
| 500135 | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
| 500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
| 500055 | 16p13.2 microdeletion syndrome
| 500095 | Tall stature-intellectual disability-renal anomalies syndrome
| 500062 | Infantile-onset periodic fever-panniculitis-dermatosis syndrome
| 500478 | Squamous cell carcinoma of the oropharynx
| 500481 | Squamous cell carcinoma of salivary glands
| 500548 | Osteosclerotic metaphyseal dysplasia
| 500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
| 500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
| 500464 | Squamous cell carcinoma of the nasal cavity and paranasal sinuses
| 502305 | Cochleovestibular dysplasia
| 502318 | Cochlear nerve deficiency
| 502363 | Squamous cell carcinoma of the oral cavity
| 502366 | Squamous cell carcinoma of the lip
| 502369 | Squamous cell carcinoma of oral cavity and lip
| 502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
| 502430 | Metopic ridging-ptosis-facial dysmorphism syndrome
| 502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
| 502437 | 4q25 proximal deletion syndrome
| 502499 | Erythema multiforme major
| 502444 | Alkaline ceramidase 3 deficiency
| 497906 | Childhood-onset basal ganglia degeneration syndrome
| 497623 | C12ORF65-related combined oxidative phosphorylation defect
| 497737 | Epidermolytic nevus
| 497757 | MME-related autosomal dominant Charcot Marie Tooth disease type 2
| 497764 | Spinocerebellar ataxia type 43
| 497188 | Diffuse intrinsic pontine glioma
| 496916 | Rare genetic hyperkinetic movement disorder
| 496924 | Non-inflammatory vasculopathy
| 498467 | Non-syndromic postaxial polydactyly
| 498464 | Non-syndromic preaxial polydactyly
| 498461 | Terminal transverse limb defect
| 498457 | Longitudinal limb defect
| 498454 | Dysostosis with brachydactyly with extraskeletal manifestations
| 498451 | Dysostosis with brachydactyly without extraskeletal manifestations
| 498448 | Overgrowth or tall stature syndrome with skeletal involvement
| 498445 | Genetic inflammatory or rheumatoid-like osteoarthropathy
| 498359 | Aquagenic palmoplantar keratoderma
| 498350 | Syndromic biliary atresia
| 498345 | Biliary atresia and associated disorders

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