Rare Disease Library

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

OBSOLETE: Adult-onset SAPHO syndrome

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

OBSOLETE: Aniridia

OBSOLETE: Atypical teratoid/rhabdoid tumor

OBSOLETE: AT/RT

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1

OBSOLETE: CAMS1

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

OBSOLETE: Bonnet-Dechaume-Blanc syndrome · OBSOLETE: CAMS2

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3

OBSOLETE: CAMS3

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

OBSOLETE: Epidermolysis bullosa simplex superficialis

OBSOLETE: EBSS

OBSOLETE: Familial articular chondrocalcinosis type 1

OBSOLETE: CCAL1

OBSOLETE: Familial articular chondrocalcinosis type 2

OBSOLETE: CCAL2

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

OBSOLETE: Familial restrictive cardiomyopathy type 3

OBSOLETE: RCM3

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

OBSOLETE: Microcephaly-seizures-developmental delay syndrome

OBSOLETE: MCSZ

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

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: Primary intraocular lymphoma

OBSOLETE: Primary vitreoretinal large B-cell lymphoma · OBSOLETE: PIOL

OBSOLETE: Rapidly progressive glomerulonephritis

OBSOLETE: RPGN · OBSOLETE: Crescentic glomerulonephritis

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

OBSOLETE: Xeroderma pigmentosum complementation group A

OBSOLETE: XPA

OBSOLETE: Xeroderma pigmentosum complementation group B

OBSOLETE: XPB

OBSOLETE: Xeroderma pigmentosum complementation group C

OBSOLETE: XPC

OBSOLETE: Xeroderma pigmentosum complementation group D

OBSOLETE: XPD

OBSOLETE: Xeroderma pigmentosum complementation group E

OBSOLETE: XPE

OBSOLETE: Xeroderma pigmentosum complementation group F

OBSOLETE: XPF

OBSOLETE: Xeroderma pigmentosum complementation group G

OBSOLETE: XPG