Rare Disease Library

Thrombomodulin-related bleeding disorder

THBD-related bleeding disorder · THBD-related coagulopathy

Beta-thalassemia and related disorders

Bleeding disorder due to P2Y12 defect

Bleeding disorder due to ADP platelet receptor P2Y12 defect

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

Common variable immunodeficiency and related disorders

CVID and related disorders

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

East Texas bleeding disorder

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

Factor V Amsterdam bleeding disorder

FV Amsterdam bleeding disorder

Factor V Atlanta bleeding disorder

FV Atlanta bleeding disorder

Factor V short isoforms-related bleeding disorder

FV short isoforms-related bleeding disorder

Filamin-related bone disorder

Bone filaminopathy

Human herpesvirus 8-related disorder

HHV-8-related disorder

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Proteoglycan-related bone disorder

Rare hemorrhagic disorder

Rare bleeding disorder

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

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

Recessive KLHL7-related disorder

Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

SPOAN and SPOAN-related disorder

Sulfation-related bone disorder

TRPV4-related bone disorder

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

Type 11 collagen-related bone disorder

Type 2 collagen-related bone disorder