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Report on Research on Rare Diseases in Children: FY 2000 to FY 2005

Acronyms
 

AA

aplastic anemia

AARDCs

Asthma and Allergic Diseases Research Centers

AARP

American Association of Retired Persons

AAV

adeno-associated virus

ACC

adrenal cortical carcinoma

ADHD

attention deficit hyperactivity disorder

ADKPD

autosomal dominant polycystic kidney disease

AGS

Alagille syndrome

ALL

acute lymphoblastic leukemia

ALPS

autoimmune lymphoproliferative syndrome

ALS

amyotrophic lateral sclerosis

AML

acute myelogenous leukemia

APS

antiphospholipid syndrome

ARHQ

Agency for Healthcare Research and Quality

ARPKD

autosomal recessive polycystic kidney disease

ART

antiretroviral therapy

ARVD

arrhythmogenic right ventricular dysplasia

ASPS

advance sleep phase syndrome

AT

ataxia telangiectasia

ATM

ataxia telangiectasia mutated

ATP

adenosine triphosphate

BA

biliary atresia

BAMF

Brief Assessment of Motor Function

BBS

Bardet-Biedl syndrome

BLS

bare lymphocyte syndrome

BM

bone marrow

BMPR2

bone morphogenetic protein receptor II

BPD

bronchopulmonary dysplasia

BWS

Beckwith-Wiedemann syndrome

CACP

camptodactyly-arthropay-coxa vara-pericarditis

CASG

Collaborative Antiviral Study Group

CATIS

Child Attitude Toward Illness Scale

CC

Warren Grant Magnuson Clinical Center, NIH

CDC

Centers for Disease Control and Prevention

CDG

congenital disorders of glycosylation

CDGS

carbohydrate-deficient glycoprotein syndrome

CDH

congenital diaphragmatic hernia

CF

cystic fibrosis

CFTR

CF transmembrane conductance regulator

CGD

chronic granulomatous disease

CHAQ

Childhood Health Assessment Questionnaire

CHID

Combined Health Information Database

CHTN

Cooperative Human Tissue Network

CIDR

Center for Inherited Disease Research

CJD

Creutzfeldt-Jakob disease

CL/P

clefts of the lip with or without cleft palate

CLPED1

CL/P-ectodermal dysplasia syndrome type 1

CLS

cholestasis-lymphedema syndrome

CMV

congenital cytomegalovirus

CNC

Carney complex

CNS

central nervous system

COG

Children's Oncology Group

CRADA

Cooperative Research and Development Agreement

CSF

cerebrospinal fluid

CTL

cytotoxic T lymphocytes

DCB

Division of Cancer Biology

DCGR

DiGeorge chromosomal region

DES

diethylstilbestrol

DHHS

U.S. Department of Health and Human Services

DIR

Division of Intermural Research

DLD

developmental language disorder

DM

myotonic dystrophy

DMD

Duchenne's muscular dystrophy

DSHEA

Dietary Supplement Health and Education Act of 1994

EDS

Ehlers-Danlos syndrome

ELST

Endolymphatic sac tumor

ESRD

end-stage renal disease

FA

Fanconi anemia

FAS

fetal alcohol syndrome

FCD

focal cortical dysplasia

FDA

U.S. Food and Drug Administration

FGFR3

fibroblast growth factor receptor 3

FHB

familial hyperbileacidemia

FHBL

familial hypobetalipoproteinemia

FHC

familial hypertrophic cardiomyopathy

FHH

familial homozygous hypercholesterolemia

FHL

familial hemophagocytic lymphohistiocytosis

fMRI

functional magnetic resonance imaging

FMRP

fragile X mental retardation protein

FPLD

familial partial lipodystrophy

FPPH

familial primary pulmonary hypertension

FRDA

Friedreich's ataxia

FSGS

focal segmental glomerulosclerosis

FSHD

facioscapulohumeral muscular dystrophy

FY

fiscal year

GAVI

Global Alliance for Vaccines and Immunization

GBS

group B streptococci

GCPS

Greig cephalo polysyndactyly syndrome

GH

growth hormone

GHIGF

growth hormone-insulin-like growth factor

GP I

glycoprotein complex I

GRA

glucocorticoid remediable aldosteronism

GvHD

graft versus host disease

HCM

human hypertrophic cardiomyopathy

HDL

high-density lipoprotein

HGP

Human Genome Project

HHT

hereditary hemorrhagic telangiectasia

Hib

Haemophilus influenzae type B

HIE

hyperimmunoglobulin E recurrent infection (syndrome)

HIV

human immunodeficiency virus

HLA

human leukocyte antigen

HPE

holoprosencephaly

HSV

herpes simplex virus

ICSBP

interferon consensus binding protein

IDF

Immune Deficiency Foundation

IND

Investigational New Drug

IP

incontinentia pigmenti

IR

ionizing radiation

IS

idiopathic scoliosis

ITP

immune thrombocytopenic purpura

JRA

juvenile rheumatoid arthritis

LADII

leukocyte adhesion deficiency II (syndrome)

LAM

lymphangioleiomyomatosis

LDL

low-density lipoprotein

LHRH

luteinizing hormone-releasing hormone

LQTS

long QT syndrome

LSD

lysosomal storage disease

LVAS

large vestibular aqueduct syndrome

MECP2

methyl cytosine binding protein 2

MHC

major histocompatability complex

MKS

McKusick-Kaufman syndrome

MODY

maturity onset diabetes of the young

MRI

magnetic resonance imaging

MRS

magnetic resonance spectroscopy

MSH

Multicenter Study of Hydroxyurea

NAEC

National Advisory Eye Council

NBS

Nijmegen breakage syndrome

NCBI

National Center for Biotechnology Information

NCCAM

National Center for Complementary and Alternative Medicine

NCI

National Cancer Institute

NCL

neuronal ceroid lipofuscinosis

NCRR

National Center for Research Resources

NEI

National Eye Institute

NGF

nerve growth factor

NHGRI

National Human Genome Research Institute

NHLBI

National Heart, Lung, and Blood Institute

NIA

National Institute on Aging

NIAAA

National Institute on Alcohol Abuse and Alcoholism

NIAMS

National Institute of Arthritis and Musculoskeletal and Skin Diseases

NICHD

National Institute of Child Health and Human Development

NIDCD

National Institute on Deafness and Other Communication Disorders

NIDCR

National Institute of Dental and Craniofacial Research

NIDDK

National Institute of Diabetes and Digestive and Kidney Diseases

NIEHS

National Institute of Environmental Health Sciences

NIGMS

National Institute of General Medical Sciences

NIH

National Institutes of Health

NIMH

National Institute of Mental Health

NINDS

National Institute of Neurological Disorders and Stroke

NINR

National Institute of Nursing Research

NISP

National Infant Sleep Position (study)

NLM

National Library of Medicine

NMDA

N-methyl-D-aspartate

NO

nitric oxide

NOS

nitric oxide synthase

NPC

Niemann-Pick type C

OAR

Office of AIDS Research (Office of the Director, NIH)

OD

Office of the Director, NIH

ODS

Office of Dietary Supplements (Office of the Director, NIH)

OI

osteogenesis imperfecta

OMIM

Online Mendelian Inheritance in Man

ORD

Office of Rare Diseases (Office of the Director, NIH)

ORWH

Office of Research on Women's Health (Office of the Director, NIH)

PA

program announcement

PANDAS

pediatric autoimmune neuropsychiatric disorders associated with streptococcus

PAP

pulmonary alveolar proteinosis

PAR

Pediatric Activity Record

PBD

peroxisomal biogenesis disorder

PCD

primary ciliary dyskinesia

PCNA

proliferating cell nuclear antigen

PDMS

Peabody Developmental Motor Scales

PDMS2

Peabody Developmental Motor Scales, 2 n d Edition

PEA-BP

prepubertal and early adolescent bipolar disorder

PEDI

Pediatric Evaluation of Durability Inventory

PEGT

Programs of Excellence in Gene Therapy

PHA

Pulmonary Hypertension Association

PKD

polycystic kidney disease

PKU

phenylketonuria

PLS

Papillon-Lefevre syndrome

PNH

paroxysmal nocturnal hemoglobinuria

PPH

primary pulmonary hypertension

PPHN

persistent pulmonary hypertension of the newborn

PXE

pseudoxanthoma elasticum

RB

retinoblastoma

RDCRD

Rare Diseases Clinical Research Database

RFA

request for application(s)

RNA

ribonucleic acid

ROP

retinopathy of prematurity

RUPP

Research Unit of Pediatric Psychopharmacology

SADDAN

severe achondroplasia with developmental delay and acanthosis nigricans

SAMHSA

Substance Abuse and Mental Health Services Administration

SCA

sickle cell anemia

SCD

sickle cell disease

SCID

severe combined immunodeficiency

SCOR

Specialized Center(s) of Research

SHH

Sonic hedgehog (gene)

SIDS

sudden infant death syndrome

SIV

simian immunodeficiency virus

SLE

systemic lupus erythematosus

SLO

Smith-Lemli-Opitz (syndrome)

STOP-ROP

Supplemental Therapeutic Oxygen for Pre-threshold Retinopathy of Prematurity (study)

SVAS

supravalvular aortic stenosis

TD

thanatophoric dysplasia

TGIF

TG-interacting factor

TSC

tuberous sclerosis complex

TSE

transmissible spongiform encephalopathies

TTP

thrombotic thrombocytopenic purpura

UCB

umbilical cord blood

VCFS

velocardiofacial syndrome

VHL

von Hippel-Lindau (disease)

VLBW

very low-birthweight

VLDL

very low-density lipoprotein

vWF

von Willebrand factor

WAS

Wiskott-Aldrich syndrome

WBS

Williams-Beuren syndrome

WHO

World Health Organization

WS

Waardenburg's syndrome

WMS

Williams syndrome

XHIM

x-linked hyper-IgM syndrome

XSCID

x-linked severe combined immunodeficiency


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Last Reviewed: February 1, 2005
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