orphafolder

| 199306 | Cleft lip/palate
| 141291 | Cleft lip and alveolus
| 244242 | HELLP syndrome
| 353253 | Burning mouth syndrome
| 289390 | Primary Sjögren syndrome
| 464724 | Fever-associated acute infantile liver failure syndrome
| 464738 | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
| 464760 | Familial cavitary optic disc anomaly
| 464756 | Familial gastric type 1 neuroendocrine tumor
| 464764 | Immune-mediated acquired neuromuscular junction disease
| 465508 | Symptomatic form of hemochromatosis type 1
| 464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome
| 464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome
| 464306 | DYRK1A-related intellectual disability syndrome
| 464329 | Kaposiform lymphangiomatosis
| 464321 | Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
| 464318 | Verrucous hemangioma
| 464311 | Intellectual disability syndrome due to a DYRK1A point mutation
| 464366 | NEK9-related lethal skeletal dysplasia
| 464359 | Benign metanephric tumour
| 464343 | Catastrophic antiphospholipid syndrome
| 464336 | BENTA disease
| 464453 | Acquired methemoglobinemia
| 464443 | COG6-CGD
| 464440 | Primary dystonia, DYT27 type
| 464370 | Neonatal alloimmune neutropenia
| 464458 | Paracetamol poisoning
| 456298 | 1p35.2 microdeletion syndrome
| 456328 | X-linked myotubular myopathy-abnormal genitalia syndrome
| 456333 | Hereditary neuroendocrine tumor of small intestine
| 456312 | Infantile multisystem neurologic-endocrine-pancreatic disease
| 456318 | Hereditary sensory neuropathy-deafness-dementia syndrome
| 454840 | NTHL1-related attenuated familial adenomatous polyposis
| 454831 | Acute radiation syndrome
| 454836 | Avian influenza
| 454887 | Corticobasal syndrome
| 454742 | Variably protease-sensitive prionopathy
| 454723 | Endometrioid carcinoma of ovary
| 454718 | Holmes-Adie syndrome
| 454714 | Plasma cell leukemia
| 454821 | Pleomorphic salivary gland adenoma
| 454750 | Isolated tracheoesophageal fistula
| 454745 | Kuru
| 453533 | Polyendocrine-polyneuropathy syndrome
| 453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
| 454710 | Anti-p200 pemphigoid
| 454706 | Progressive muscular atrophy
| 454700 | Acquired Creutzfeldt-Jakob disease
| 451602 | Primary cutaneous plasmacytosis
| 451607 | Cutaneous pseudolymphoma
| 451612 | Familial congenital nasolacrimal duct obstruction
| 453499 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
| 453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
| 453510 | Congenital insensitivity to pain with severe intellectual disability
| 450322 | Polyclonal hyperviscosity syndrome
| 449566 | Eosinophilic angiocentric fibrosis
| 449563 | IgG4-related ophthalmic disease
| 449306 | Susceptibility to infection in immunocompromised patient
| 449291 | Symptomatic form of fragile X syndrome in female carrier
| 449400 | IgG4-related aortitis
| 449395 | IgG4-related kidney disease
| 449432 | IgG4-related submandibular gland disease
| 449427 | IgG4-related pachymeningitis
| 449280 | Scedosporiosis
| 449285 | Snakebite envenomation
| 449266 | Pleural empyema
| 448372 | X-linked acrogigantism due to Xq26 microduplication
| 448426 | Genetic primary orthostatic hypotension
| 448348 | X-linked acrogigantism due to a point mutation
| 448264 | Isolated focal non-epidermolytic palmoplantar keratoderma
| 448251 | Progressive autosomal recessive ataxia-deafness syndrome
| 448270 | Ectopia cordis
| 448267 | Regressive spondylometaphyseal dysplasia
| 448010 | CAD-CDG
| 447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
| 448242 | Autosomal recessive brachyolmia
| 448237 | Zika virus disease
| 447977 | Progressive scapulohumeroperoneal distal myopathy
| 447974 | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
| 447985 | Partial duplication of the short arm of chromosome 19
| 447980 | 19p13.3 microduplication syndrome
| 447954 | Combined oxidative phosphorylation defect type 25
| 447964 | Autosomal dominant Charcot-Marie-Tooth disease type 2V
| 447961 | Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
| 459353 | C1 inhibitor deficiency
| 459526 | Rare genetic capillary malformation
| 459345 | Immunodeficiency due to a complement cascade component deficiency
| 459348 | Immunodeficiency due to a complement regulatory deficiency
| 459543 | Rare genetic vascular tumor
| 459548 | Rare genetic venous malformation
| 459530 | Genetic primary lymphedema
| 459537 | Genetic complex vascular malformation with associated anomalies
| 459787 | Lethal multiple congenital anomalies/dysmorphic syndrome
| 458837 | Rare combined vascular malformation
| 458833 | Common cystic lymphatic malformation
| 458844 | Rare vascular malformation of major vessels
| 458841 | Primary lymphedema with associated anomalies
| 459033 | Ataxia-oculomotor apraxia type 4
| 459051 | Spondyloepiphyseal dysplasia, Stanescu type
| 459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

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