Rare Disease Library

OBSOLETE: Ichthyosis-cheek-eyebrow syndrome

OBSOLETE: Sidransky-Feinstein-Goodman syndrome

OBSOLETE: Infantile epilepsy syndrome

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

OBSOLETE: Juvenile-onset SAPHO syndrome

OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

OBSOLETE: Lown-Ganong-Levine syndrome

OBSOLETE: LGL syndrome · OBSOLETE: Atrial tachyarrhythmia with short PR interval

OBSOLETE: Lymphedema-cleft palate syndrome

OBSOLETE: Lymphoproliferative syndrome

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

OBSOLETE: Mickleson syndrome

OBSOLETE: Neonatal epilepsy syndrome

OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome

OBSOLETE: Maccario-Mena syndrome

OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome

OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome · OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome

OBSOLETE: Oculo-skeletal-renal syndrome

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Behrens-Baumann-Vogel syndrome · OBSOLETE: Microphthalmia-optic nerve aplasia syndrome

OBSOLETE: Oculocerebroacral syndrome

OBSOLETE: Oculocerebroosseous syndrome

OBSOLETE: Plum syndrome

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

OBSOLETE: Orofaciodigital syndrome type 12

OBSOLETE: OFD12 · OBSOLETE: Moran-Barroso syndrome

OBSOLETE: Orofaciodigital syndrome type 13

OBSOLETE: Degner syndrome · OBSOLETE: Oral-facial-digital syndrome type 13

OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

OBSOLETE: Heide syndrome

OBSOLETE: Otopalatodigital syndrome

OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome

OBSOLETE: Fitzsimmons-Guilbert syndrome

OBSOLETE: Partial prune belly syndrome

OBSOLETE: Pediatric Sjögren syndrome

OBSOLETE: Peeling skin syndrome type C

OBSOLETE: Generalized deciduous skin type C · OBSOLETE: Generalized peeling skin syndrome type C

OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

OBSOLETE: Stoll-Lévy-Francfort syndrome · OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome

OBSOLETE: Pilotto syndrome

OBSOLETE: Pitt-Hopkins-like syndrome

OBSOLETE: Platyspondylic lethal chondrodysplasia

OBSOLETE: Akaba-Hayasaka syndrome

OBSOLETE: Preeyasombat-Varavithya syndrome

OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome

OBSOLETE: Pulmonary aortic stenosis obstructive uropathy

OBSOLETE: Kashani-Strom-Utley syndrome

OBSOLETE: Ramsay Hunt syndrome type II

OBSOLETE: Renier-Gabreels-Jasper syndrome

OBSOLETE: Rosselli-Gulienetti syndrome

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

OBSOLETE: Say-Field-Coldwell syndrome

OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

OBSOLETE: Shy-Drager syndrome

OBSOLETE: MSA-urinary dysfunction syndrome · OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome

OBSOLETE: Sinus node disease-myopia syndrome

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

OBSOLETE: Syndromes with synostoses of limbs