Search for a Rare Disease Study

17q12 deletion and duplication syndromes

Chromosome 17q12 Deletion & Duplication Syndromes Patient Registry (17q12 Patient Registry)

Albinism/HPS/CHS

Albinism International Databank

Appendix cancer/PMP

ACPMP Patient Registry

APS Type 1

The APS Type 1 (APECED) Registry

Arboleda-Tham Syndrome (ARTHS)/KAT6A Syndrome/KAT6B Syndrome

KAT6A/KAT6B Patient Registry

aspartylglucosaminuria

Aspartylglucosaminuria (AGU) Registry and Natural History Study

Bloom syndrome

International Bloom Syndrome Registry

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)

CADASIL Community Natural History Study

Cerebral Creatine Deficiency Syndromes (CCDS)

CreatineInfo Registry

Chondrosarcoma

Chondrosarcoma Patient Registry

CLOVES Syndrome

CLOVES Syndrome Registry

Congenital Central Hypoventilation Syndrome

CCHS Network One World Registry

congenital melanocytic nevi (CMN)

​​Nevus Owners Outcomes Registry (NOOR)​

Desmoid tumor

DTRF Desmoid Tumor Patient Registry

Ectodermal Dysplasias

ClinGen GenomeConnect Patient Data Sharing Program

Ectodermal Dysplasias Registry

EHE

Global EHE Patient Registry

Fanconi anemia

Fanconi Anemia Registry

FGFR Syndromes

FGFR Syndromes Research Registry

Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)

FD/MAS Patient Registry

Genetic Cardiomyopathy

The Genetic Cardiomyopathy Registry (GCR)

Gorlin Syndrome

Gorlin Syndrome Alliance Patient Registry

HHT

HHT Connect

Hypothalamic-pituitary tumors

Hypothalamic-Pituitary Brain Tumors Patient Registry

IPPF

International Pemphigus & Pemphigoid Foundation Natural History Registry

ITP

ITP Natural History Study Registry

Kabuki Syndrome

Kabuki Syndrome Registry

KCNT1 related disorders

KCNT1 International Registry

Krabbe Disease

KrabbeCURES

Lennox-Gastaut Syndrome (LGS)

LGS-CORE Study

LGMD2A/Calpainopathy

LGMD2A/Calpainopathy Registry

Lymphatic Malformation

International Patient Registry for Lymphatic Malformations 

Mal de Débarquement Syndrome (MdDS)

Mal de Débarquement Syndrome (MdDS) Patient Registry

Mast Cell Disease

The Mast Cell Diseases Patient and Provider Registry 

Mitochondrial Aminoacyl-tRNA synthetase (mtARS) Disorders

CureARS MAPS Registry

Moebius syndrome

Moebius Syndrome Foundation Research Registry

mucopolysaccharide & related diseases

The Canadian MPS Registry Clinical Data

The Canadian MPS Registry

necrotizing enterocolitis

The Necrotizing Enterocolitis (NEC) Registry

neuropathic facial pain

The Facial Pain Registry

NF

NF Registry

Ocular Melanoma

INSIGHT

Opsoclonus Myoclonus Ataxia Syndrome (OMAS)

OMS Patient Registry

Organic Acidemia

The OAA Natural History Patient Registry

Peroxisomal Disorders

The GFPD Patient Registry for Peroxisomal Disorders

Phenylketonuria (PKU)

PKU Patient Registry

PKU

PKU Patient Registry EHR Integration

The Canadian PKU Registry

PNH

The Global Paroxysmal Nocturnal Hemoglobinuria (PNH) Patient Registry

Prader-Willi Syndrome

Global Prader-Willi Syndrome Registry

Recurrent Pregnancy Loss

Recurrent Pregnancy Loss Community Registry

Recurrent Respiratory Papillomatosis

Recurrent Respiratory Papillomatosis Registry

SCN2A-related disorders

SCN2A DRAGONFLY Registry

SCN8A

The Cute Syndrome Foundation Global SCN8A Survey Series

spinal cerebrospinal fluid (CSF) leak / intracranial hypotension

ileak registry(SM)

Stiff Person Syndrome Spectrum Disorders

Stiff Person Syndrome Global Registry

SYS

The Global Schaaf-Yang Syndrome Registry

Tatton Brown Rahman Syndrome and DNMT3A-related disorders

Tatton Brown Rahman Syndrome Community Patient Registry

Topical Steroid Withdrawal Syndrome (TSW)

Topical Steroid Withdrawal Syndrome Patient Registry

Vestibular Disorders

Dizziness, Vertigo and Imbalance Patient Registry

von Hippel-Lindau (VHL)

MyVHL: Patient Natural History Study

Wolfram Syndrome

Wolfram Syndrome Global Patient Registry