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"

21 matching diseasesClear search ×

Intellectual disability, Wolff type

Wolff-Zimmermann syndrome

ORPHA:3080

Asherman syndrome

ORPHA:137686

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

ORPHA:1496

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

ORPHA:2790

Fuhrmann syndrome

Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

ORPHA:2854

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

ORPHA:2077

Gerstmann syndrome

ORPHA:221117

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

ORPHA:2108

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

ORPHA:79099

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

ORPHA:478

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

ORPHA:99749

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

ORPHA:652

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

ORPHA:3237

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

ORPHA:2349

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

ORPHA:820

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

ORPHA:3206

W syndrome

Pallister-W syndrome

ORPHA:2804

Wieacker-Wolff syndrome

Foot contractures-muscle atrophy-oculomotor apraxia syndrome

ORPHA:3454

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

ORPHA:3463

Wolfram-like syndrome

ORPHA:411590

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome

ORPHA:3473