orphafolder

| 412035 | 13q12.3 microdeletion syndrome
| 412022 | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
| 411641 | Ocular cystinosis
| 411634 | Juvenile nephropathic cystinosis
| 411696 | Proton-pump inhibitor-responsive esophageal eosinophilia
| 411709 | Renal agenesis
| 411703 | Pulmonary non-tuberculous mycobacterial infection
| 435564 | Genetic precocious puberty in female
| 435561 | Precocious puberty in female
| 435554 | Genetic precocious puberty
| 435609 | Genetic larynx anomaly
| 435606 | Genetic nose and cavum anomaly
| 435603 | Genetic otorhinolaryngological malformation
| 435628 | Keppen-Lubinsky syndrome
| 435612 | Genetic tracheal anomaly
| 435743 | Congenital urachal anomaly
| 435660 | LIPE-related familial partial lipodystrophy
| 435651 | CIDEC-related familial partial lipodystrophy
| 435638 | 3p25.3 microdeletion syndrome
| 435804 | Short stature-advanced bone age-early-onset osteoarthritis syndrome
| 435845 | Lethal neonatal spasticity-epileptic encephalopathy syndrome
| 435930 | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
| 435819 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
| 435953 | Progeroid features-hepatocellular carcinoma predisposition syndrome
| 435988 | Chronic atrial and intestinal dysrhythmia syndrome
| 435934 | COG2-CDG
| 435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
| 436141 | Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
| 436144 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
| 435998 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
| 436003 | Contractures-developmental delay-Pierre Robin syndrome
| 436159 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
| 436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome
| 436169 | Thrombomodulin-related bleeding disorder
| 436166 | Periodic fever-infantile enterocolitis-autoinflammatory syndrome
| 436182 | Microcephalic primordial dwarfism-insulin resistance syndrome
| 436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
| 436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
| 436242 | Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
| 436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
| 436252 | Combined immunodeficiency-enteropathy spectrum
| 436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
| 437552 | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
| 437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy
| 438178 | Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
| 438159 | STAT3-related early-onset multisystem autoimmune disease
| 438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome
| 438117 | Steel syndrome
| 438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy
| 438075 | Ketoacidosis due to monocarboxylate transporter-1 deficiency
| 438072 | Disorder of keton body transport
| 438279 | Human infection by orthopoxvirus
| 438274 | GCGR-related hyperglucagonemia
| 438266 | Progressive encephalomyelitis with rigidity and myoclonus
| 438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
| 438213 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
| 438207 | Severe autosomal recessive macrothrombocytopenia
| 439224 | ALECT2 amyloidosis
| 439232 | AApoAIV amyloidosis
| 439212 | Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
| 439218 | KCNQ2-related epileptic encephalopathy
| 439196 | Zinc-responsive necrolytic acral erythema
| 439202 | Non-recovering obstetric brachial plexus lesion
| 439167 | Placental insufficiency
| 439175 | Pediatric arterial ischemic stroke
| 439762 | Systemic polyarteritis nodosa
| 439822 | PDE4D haploinsufficiency syndrome
| 439746 | Secondary polyarteritis nodosa
| 439755 | Single-organ polyarteritis nodosa
| 439729 | Cutaneous polyarteritis nodosa
| 439737 | Primary polyarteritis nodosa
| 439246 | ABeta2M amyloidosis
| 439254 | ITM2B amyloidosis
| 440221 | Congenital oculomotor nerve palsy
| 440233 | Congenital abducens nerve palsy
| 439854 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
| 439849 | Autosomal recessive severe congenital neutropenia
| 439897 | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
| 439881 | Plastic bronchitis
| 440402 | Interstitial lung disease due to ABCA3 deficiency
| 440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
| 440392 | Interstitial lung disease due to SP-C deficiency
| 440368 | Necrotizing soft tissue infection
| 440713 | Isolated sedoheptulokinase deficiency
| 440724 | Extensive peripapillary myelinated nerve fibers
| 440727 | Combined hamartoma of the retina and retinal pigment epithelium
| 440731 | L-ferritin deficiency
| 440427 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
| 440437 | Familial colorectal cancer Type X
| 440701 | Disorders of pentose/polyol metabolism
| 440706 | Ribose-5-P isomerase deficiency
| 441434 | Syndromic hereditary optic neuropathy
| 441447 | Early-onset posterior subcapsular cataract
| 441452 | Early-onset lamellar cataract
| 440987 | Isolated agenesis of gallbladder
| 443057 | Sporadic porphyria cutanea tarda
| 443062 | Familial porphyria cutanea tarda
| 443079 | Central serous chorioretinopathy
| 443084 | Baroreflex failure
| 443070 | Hemicrania continua

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