Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

200 matching diseasesClear search ×

Localized lichen myxedematosus with mixed features of different subtypes

ORPHA:90398

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

ORPHA:90399

Lupus erythematosus panniculitis

Lupus erythematosus profundus

ORPHA:90285

Lupus erythematosus tumidus

Intermittent cutaneous lupus

ORPHA:90283

Lymphedema with yellow nails

Yellow nail syndrome · YNS

ORPHA:662

Lymphedema-atrial septal defects-facial changes syndrome

Irons-Bianchi syndrome · Irons-Bhan syndrome

ORPHA:86915

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914

Lymphedema-distichiasis syndrome

ORPHA:33001

Lymphedema-posterior choanal atresia syndrome

ORPHA:99141

Lymphedema-ptosis syndrome

ORPHA:2419

Microcephaly-cutis verticis gyrata-lymphedema syndrome

ORPHA:99142

Microcephaly-lymphedema-chorioretinopathy syndrome

MLCRD

ORPHA:2526

Microcephaly-microcornea syndrome, Seemanova type

Seemanova-Lesny syndrome

ORPHA:2528

Microvenular haemangioma

MVH

ORPHA:675369

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Mucopolysaccharidosis-like plus disease

ORPHA:505248

Multifocal infantile hemangioma with extracutenous involvement

Diffuse neonatal hemangiomatosis

ORPHA:2123

Nemaline myopathy

NEM · NM

ORPHA:607

Neonatal lupus erythematosus

ORPHA:398124

Niemann-Pick disease type C

ORPHA:646

Niemann-Pick disease type C, adult neurologic onset

ORPHA:216986

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

ORPHA:216981

Niemann-Pick disease type C, late infantile neurologic onset

ORPHA:216978

Niemann-Pick disease type C, severe early infantile neurologic onset

ORPHA:216975

Niemann-Pick disease type C, severe perinatal form

ORPHA:216972

Niemann-Pick disease type D

Niemann-Pick disease, Nova Scotia type

ORPHA:79289

Nodular lichen myxedematosus

Atypical tuberous myxedema of Jadassohn-Dosseker

ORPHA:90393

Non-hereditary congenital primary lymphedema

ORPHA:79450

Non-hereditary late-onset primary lymphedema

Meige-like disease

ORPHA:90185

Non-histaminic angioedema

Angioneurotic edema · Bradykinine-induced angioedema

ORPHA:658

Non-involuting congenital hemangioma

NICH

ORPHA:141179

Non-syndromic urogenital tract malformation of female

ORPHA:182117

Non-syndromic urogenital tract malformation of male and female

ORPHA:182124

OBSOLETE: Acute cutaneous lupus erythematosus

ORPHA:163528

OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh

OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor

ORPHA:537891

OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation

ORPHA:238613

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: Congenital liver hemangioma

OBSOLETE: Congenital hepatic hemangioma

ORPHA:238691

OBSOLETE: Conjunctival hemangioma or hemolymphangioma

ORPHA:98612

OBSOLETE: Familial capillary hemangioma

ORPHA:91415

OBSOLETE: Genetic primary lymphedema

ORPHA:459530

OBSOLETE: Giant infantile hemangioma

ORPHA:210592

OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome

OBSOLETE: Familial platelet disorder with predisposition to hematological cancer

ORPHA:477697

OBSOLETE: Lymphedema

ORPHA:79383

OBSOLETE: Lymphedema praecox

ORPHA:77241

OBSOLETE: Lymphedema tarda

ORPHA:77242

OBSOLETE: Lymphedema-cleft palate syndrome

ORPHA:86917

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

ORPHA:99143

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

ORPHA:93686