Rare Disease Library

OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome

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

OBSOLETE: Niemann-Pick disease type E

OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones

OBSOLETE: Non-distal monosomy 20q

OBSOLETE: Non-distal deletion 20q · OBSOLETE: Non-telomeric monosomy 20q

OBSOLETE: Non-distal monosomy 7p

OBSOLETE: Non-distal deletion 7p · OBSOLETE: Non-telomeric monosomy 7p

OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly

OBSOLETE: Non-herpetic acute limbic encephalitis

OBSOLETE: Non-idiopathic juvenile arthritis

OBSOLETE: Non-paraneoplastic limbic encephalitis

OBSOLETE: Non-pore-loop channelopathy

OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly

OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly

OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly

OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder

OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy

OBSOLETE: Non-progressive congenital heart block

OBSOLETE: Non-secreting chemodectoma

OBSOLETE: Non-syndromic developmental defect of the eye

OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature

OBSOLETE: Not NOTCH3-related small vessel disease of the brain

OBSOLETE: Nuclear cell envelopathy

OBSOLETE: Nuclear oculomotor paralysis

OBSOLETE: Occupational allergic alveolitis

OBSOLETE: Ocular coloboma

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: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies

OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies · OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies

OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies

OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies · OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies

OBSOLETE: Onycho-patellar syndrome with eye involvement

OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates 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: Osteochondritis of tarsal/metatarsal bone

OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome · OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome

OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

OBSOLETE: Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome

OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

OBSOLETE: Heide syndrome

OBSOLETE: Other complex syndrome of primary immunodeficiency

OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis

OBSOLETE: Other ganglionopathy related to autoimmune diseases

OBSOLETE: Other neuronopathy related to autoimmune diseases

OBSOLETE: Other immunodeficiency syndrome with predominantly antibody defects