Rare Disease Library

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Hyperlipoproteinemia type 1

HLP type 1

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

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: Cataract, Hutterite type

OBSOLETE: Cobblestone lissencephaly type A

OBSOLETE: Lissencephaly type 2A

OBSOLETE: Cobblestone lissencephaly type B

OBSOLETE: Lissencephaly type 2B

OBSOLETE: Cobblestone lissencephaly type C

OBSOLETE: Lissencephaly type 2C

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

OBSOLETE: Epidermolysis bullosa simplex superficialis

OBSOLETE: EBSS

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

OBSOLETE: Familial restrictive cardiomyopathy type 3

OBSOLETE: RCM3

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

OBSOLETE: Gastric neuroendocrine tumor type 1

OBSOLETE: GNET type 1

OBSOLETE: Gastric neuroendocrine tumor type 2

OBSOLETE: GNET type 2

OBSOLETE: Gastric neuroendocrine tumor type 3

OBSOLETE: GNET type 3

OBSOLETE: Gastric neuroendocrine tumor type 4

OBSOLETE: GNET type 4

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: Glycogen storage disease due to acid maltase deficiency, juvenile onset

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

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

OBSOLETE: Hemochromatosis type 5

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

OBSOLETE: Kenya tick typhus

OBSOLETE: Kenya tick-bite fever

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: 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

Osteogenesis imperfecta type 5

OI type 5