Rare Disease Library

OBSOLETE: Choroideremia-hypopituitarism syndrome

OBSOLETE: CHM-hypopituitarism syndrome

OBSOLETE: CINCA syndrome with NLRP3 mutations

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome

OBSOLETE: CAVC-left heart obstruction syndrome

OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

OBSOLETE: Ben Ari-Shuper-Mimouni syndrome

OBSOLETE: Cortada-Koussef-Matsumoto syndrome

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome

OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome

OBSOLETE: Craniofaciocervical osteoglyphic dysplasia

OBSOLETE: Bazopoulou-Kyrkanidou syndrome

OBSOLETE: Craniosynostosis-cataract syndrome

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type

OBSOLETE: Imaizumi-Kuroki syndrome

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

OBSOLETE: Allain-Babin-Demarquez syndrome · OBSOLETE: Acro-cephalo-synostosis

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

OBSOLETE: Dacryocystitis-osteopoikilosis syndrome

OBSOLETE: Gunal-Seber-Basaran syndrome

OBSOLETE: Deafness-white hair-contractures-papillomas syndrome

OBSOLETE: Davenport-Donlan syndrome

OBSOLETE: Dennis-Cohen syndrome

OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome

OBSOLETE: Mollica-Pavone-Antener syndrome

OBSOLETE: Dyschondrosteosis-nephritis syndrome

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

OBSOLETE: Ehlers-Danlos syndrome type 1

OBSOLETE: EDS I

OBSOLETE: Ehlers-Danlos syndrome type 2

OBSOLETE: EDS II

OBSOLETE: Ehlers-Danlos syndrome type 7A

OBSOLETE: EDS VIIA

OBSOLETE: Ehlers-Danlos syndrome type 7B

OBSOLETE: EDS VIIB

OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality · OBSOLETE: EDS X

OBSOLETE: Embryonary disorganization syndrome

OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome

OBSOLETE: Stalker-Chitayat syndrome

OBSOLETE: Foix-Alajouanine syndrome

OBSOLETE: Subacute necrotizing myelitis · OBSOLETE: Angiodysgenetic necrotizing myelopathy

OBSOLETE: Grix-Blankenship-Peterson syndrome

OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome

OBSOLETE: Hashimoto-Pritzker syndrome

OBSOLETE: Congenital Langerhans cell histiocytosis

OBSOLETE: Heckenlively syndrome

OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

OBSOLETE: HIPO syndrome

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome

OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome

OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome

OBSOLETE: Blethen-Wenick-Hawkins syndrome

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: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type

OBSOLETE: Davis-Lafer syndrome

OBSOLETE: Intermediate stomatocytosis syndrome

OBSOLETE: Isolated cloverleaf skull 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: Lethal chondrodysplasia, Moerman type

OBSOLETE: Moerman-Vandenberghe-Fryns syndrome

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome