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"

50 matching diseasesClear search ×

Rare hemorrhagic disorder

Rare bleeding disorder

ORPHA:248308

Rare hemorrhagic disorder due to a coagulation factors defect

Rare bleeding disorder due to a coagulation factors defect · Rare coagulopathy due to a coagulation factor defect

ORPHA:248315

Rare hemorrhagic disorder due to a constitutional coagulation factors defect

Rare bleeding disorder due to a constitutional coagulation factors defect · Rare coagulopathy due to a constitutional coagulation factors defect

ORPHA:68334

Rare hemorrhagic disorder due to a constitutional platelet anomaly

Rare bleeding disorder due to a constitutional platelet anomaly · Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia

ORPHA:71202

Rare hemorrhagic disorder due to a constitutional thrombocytopenia

Rare hemorrhagic disorder due to a quantitative platelet defect · Rare bleeding disorder due to a quantitative platelet defect

ORPHA:275729

Rare hemorrhagic disorder due to a platelet anomaly

Rare bleeding disorder due to a platelet anomaly · Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia

ORPHA:248326

Rare hemorrhagic disorder due to a qualitative platelet defect

Rare bleeding disorder due to a constitutional thrombopathy · Rare coagulopathy due to a constitutional thrombopathy

ORPHA:275736

Rare hemorrhagic disorder due to an acquired coagulation factor defect

Rare bleeding disorder due to an acquired coagulation factor defect · Rare coagulopathy due to an acquired coagulation factor defect

ORPHA:166775

Rare hemorrhagic disorder due to an acquired platelet anomaly

Rare bleeding disorder due to an acquired platelet anomaly · Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia

ORPHA:248347

Bleeding disorder due to CalDAG-GEFI deficiency

Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency

ORPHA:420566

Bleeding disorder due to P2Y12 defect

Bleeding disorder due to ADP platelet receptor P2Y12 defect

ORPHA:36355

Bleeding disorder in hemophilia A carriers

ORPHA:177926

Bleeding disorder in hemophilia B carriers

ORPHA:177929

East Texas bleeding disorder

Factor V East Texas bleeding disorder · FV East Texas bleeding disorder

ORPHA:391320

Factor V Amsterdam bleeding disorder

FV Amsterdam bleeding disorder

ORPHA:599579

Factor V Atlanta bleeding disorder

FV Atlanta bleeding disorder

ORPHA:600194

Factor V short isoforms-related bleeding disorder

FV short isoforms-related bleeding disorder

ORPHA:599519

Rare bone development disorder

Rare skeletal development disorder

ORPHA:139012

Rare choreic movement disorder

ORPHA:306715

Rare choroidal disorder

ORPHA:519309

Rare corneal disorder

ORPHA:519282

Rare disorder due to poisoning

ORPHA:556508

Rare disorder of the pupil

ORPHA:519286

Rare disorder with ectropion

ORPHA:519268

Rare disorder with entropion

ORPHA:519270

Rare disorder with ptosis

ORPHA:98578

Rare disorder with strabismus

ORPHA:98681

Rare dystonia

Rare dystonic disorder

ORPHA:68363

Rare eyebrow/eyelash disorder

Rare eyebrow/eyelashes anomaly

ORPHA:98594

Rare genetic corneal disorder

ORPHA:522556

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic macular disorder

ORPHA:522574

Rare genetic movement disorder

ORPHA:183521

Rare genetic retinal disorder

ORPHA:522572

Rare genetic tremor disorder

ORPHA:307061

Rare macular disorder

ORPHA:519313

Rare movement disorder

ORPHA:102003

Rare oculomotor nerve disorder

ORPHA:98685

Rare odontal or periodontal disorder

ORPHA:164001

Rare ophthalmic disorder

ORPHA:97966

Rare optic nerve disorder

ORPHA:519351

Rare palpebral disorder

ORPHA:98560

Rare parkinsonian disorder

Rare hypokinetic movement disorder

ORPHA:68402

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778

Rare retinal disorder

ORPHA:519315

Rare scleral disorder

ORPHA:519298

Rare sleep disorder

ORPHA:68354

Rare tremor disorder

ORPHA:306712