Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (DOID:0080209)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
3-M syndrome +   
3-Methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria type 8  
3-methylglutaconic aciduria type 9  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3MC syndrome 3  
ABCD syndrome  
abetalipoproteinemia +   
Abuse Dwarfism Syndrome 
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
adult spinal muscular atrophy  
African iron overload 
agammaglobulinemia +   
agammaglobulinemia 4  
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
Al Gazali Sabrinathan Nair Syndrome 
Alkuraya-Kucinskas syndrome  
alopecia universalis +   
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Amelogenesis Imperfecta Type 3C  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
Antibody Deficiency due to Defect in CD19 
Antley-Bixler syndrome +   
ARC syndrome +   
arrhythmogenic right ventricular dysplasia 11  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
asphyxiating thoracic dystrophy +   
ataxia telangiectasia +   
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrichia with papular lesions  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
autosomal dominant familial periodic fever  
autosomal dominant sideroblastic anemia 4  
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
Autosomal Recessive Robinow Syndrome 2  
autosomal recessive type IV Ehlers-Danlos syndrome 
autosomal recessive Whistling face syndrome 
Autosomal Recessive Woolly Hair +   
Autosomal Sideroblastic Anemia  
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Bardet-Biedl syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Behr syndrome  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloom syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boucher-Neuhauser syndrome  
Bowen-Conradi syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Brown-Vialetto-Van Laere syndrome +   
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
CARD11 Immunodeficiency  
carnitine-acylcarnitine translocase deficiency  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CD3epsilon deficiency 
CD3gamma deficiency 
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
CEDNIK syndrome  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2A2B  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2EE  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
Chediak-Higashi syndrome +   
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
choreaacanthocytosis  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
COACH syndrome  
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
Cohen syndrome  
cold-induced sweating syndrome +   
combined D-2- and L-2-hydroxyglutaric aciduria  
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
combined malonic and methylmalonic acidemia  
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement deficiency +   
congenital adrenal insufficiency  
congenital amegakaryocytic thrombocytopenia  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
congenital disorder of glycosylation Ia  
congenital disorder of glycosylation Iaa  
congenital disorder of glycosylation Ib  
congenital disorder of glycosylation Ic  
congenital disorder of glycosylation Id  
congenital disorder of glycosylation Ie  
congenital disorder of glycosylation If  
congenital disorder of glycosylation Ig  
congenital disorder of glycosylation Ih  
congenital disorder of glycosylation Ii  
congenital disorder of glycosylation Ij  
congenital disorder of glycosylation Ik  
congenital disorder of glycosylation Il  
congenital disorder of glycosylation Im  
congenital disorder of glycosylation In  
congenital disorder of glycosylation Ip  
congenital disorder of glycosylation Iq  
congenital disorder of glycosylation Ir  
congenital disorder of glycosylation It  
congenital disorder of glycosylation Iu  
congenital disorder of glycosylation Iw  
congenital disorder of glycosylation Ix  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
congenital dyserythropoietic anemia type Ia  
congenital dyserythropoietic anemia type Ib  
congenital dyserythropoietic anemia type II  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital generalized lipodystrophy +   
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital hereditary endothelial dystrophy of cornea  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
congenital hypotrichosis with juvenile macular dystrophy  
congenital lactase deficiency  
congenital leptin deficiency  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
congenital sucrase-isomaltase deficiency  
corneal dystrophy-perceptive deafness syndrome  
cortical dysplasia-focal epilepsy syndrome  
cortisone reductase deficiency 1  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
craniolenticulosutural dysplasia  
cystathioninuria  
cystic fibrosis +   
cystinosis +   
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
diastrophic dysplasia +   
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
distal arthrogryposis type 5D  
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Dyggve-Melchior-Clausen disease +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
dystonia 16  
dystonia 27  
dystonia 5  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
EAST syndrome  
ectodermal dysplasia 10B  
ectodermal dysplasia 11B  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 15  
ectodermal dysplasia 4  
ectodermal dysplasia 5 
ectodermal dysplasia 6 
ectodermal dysplasia 7  
ectodermal dysplasia 8 
ectodermal dysplasia 9  
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
ectopia lentis with ectopia of pupil  
Ehlers-Danlos syndrome progeroid type +   
Ellis-Van Creveld syndrome +   
endocrine-cerebro-osteodysplasia syndrome  
Endotoxin Hyporesponsiveness  
enhanced S-cone syndrome  
enterokinase deficiency  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
factor XII deficiency  
familial adenomatous polyposis 2  
familial adenomatous polyposis 3  
familial adenomatous polyposis 4  
familial apolipoprotein C-II deficiency  
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
familial isolated trichomegaly  
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
Fanconi-like syndrome  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fatal infantile hypertonic myofibrillar myopathy  
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
Fever of Unknown Origin +   
fibular hypoplasia and complex brachydactyly  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Fraser syndrome +   
Fuhrmann syndrome  
fumarase deficiency  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
geroderma osteodysplasticum  
giant axonal neuropathy 1  
Gitelman syndrome  
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glutaric acidemia I  
Goldberg-Shprintzen syndrome  
Gordon Holmes syndrome  
GRACILE syndrome  
Greenberg dysplasia  
Griscelli syndrome +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary arterial and articular multiple calcification syndrome +   
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hermansky-Pudlak syndrome +   
Heyn-Sproul-Jackson Syndrome  
high myopia-sensorineural deafness syndrome  
histiocytosis-lymphadenopathy plus syndrome  
human immunodeficiency virus infectious disease +   
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
hypermethioninemia due to adenosine kinase deficiency  
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
Hypochromic Microcytic Anemia with Iron Overload 1  
Hypoglobulinemia and Absent B Cells 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
IL21R Immunodeficiency  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS  
Immunodeficiency 12  
Immunodeficiency 14  
IMMUNODEFICIENCY 15 +   
Immunodeficiency 16  
Immunodeficiency 19  
Immunodeficiency 20  
Immunodeficiency 21  
Immunodeficiency 22  
Immunodeficiency 23  
IMMUNODEFICIENCY 24  
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES  
Immunodeficiency 27B  
IMMUNODEFICIENCY 28  
IMMUNODEFICIENCY 29  
Immunodeficiency 30  
Immunodeficiency 31A  
IMMUNODEFICIENCY 31B  
Immunodeficiency 31C  
Immunodeficiency 32A  
Immunodeficiency 32B  
Immunodeficiency 36  
Immunodeficiency 37  
Immunodeficiency 38, with Basal Ganglia Calcification  
Immunodeficiency 39  
Immunodeficiency 40  
Immunodeficiency 42  
Immunodeficiency 44  
Immunodeficiency 45  
Immunodeficiency 46  
Immunodeficiency 47  
Immunodeficiency 48  
Immunodeficiency 49  
Immunodeficiency 50  
Immunodeficiency 51  
Immunodeficiency 52  
Immunodeficiency 53  
Immunodeficiency 55  
Immunodeficiency 57  
Immunodeficiency 58  
Immunodeficiency 60  
Immunodeficiency 62  
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity  
Immunodeficiency 64  
Immunodeficiency 65  
Immunodeficiency due to Defect in CD3-Epsilon  
Immunodeficiency due to Defect in CD3-Gamma  
Immunodeficiency due to Defect in CD3-Zeta  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency due to Ficolin 3 Deficiency  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
Immunodeficiency without Anhidrotic Ectodermal Dysplasia  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Interleukin 2 Receptor, Alpha, Deficiency of  
intermediate spinal muscular atrophy  
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
isolated hyperchlorhidrosis  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Jackson-Weiss syndrome  
Jalili syndrome  
JMP syndrome  
Johanson-Blizzard syndrome  
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
karyomegalic interstitial nephritis  
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
Keppen-Lubinsky Syndrome  
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Kohlschutter-Tonz syndrome  
Kotzot-Richter Syndrome 
Kufor-Rakeb syndrome  
Lafora disease  
Lamb-Shaffer Syndrome  
Laron syndrome +   
Larsen-like syndrome B3GAT3 type  
late-adult onset retinitis pigmentosa 
Laurence-Moon syndrome  
Leber congenital amaurosis 1  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 2  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
lethal congenital contracture syndrome +   
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Lichtenstein Syndrome 
Loucks-Innes Syndrome  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Luscan-Lumish syndrome  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Marinesco-Sjogren syndrome  
Martsolf syndrome  
MASP2 Deficiency  
McKusick-Kaufman syndrome  
megaconial type congenital muscular dystrophy  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
microphthalmia with limb anomalies  
microvillus inclusion disease  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mitochondrial pyruvate carrier deficiency  
mitochondrial trifunctional protein deficiency  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mucopolysaccharidosis Ih  
mucopolysaccharidosis Ih/s  
mucopolysaccharidosis IVA  
mucopolysaccharidosis type IIIA  
mucopolysaccharidosis type IIIB  
mucopolysaccharidosis type IIIC  
mucopolysaccharidosis type IIID  
mucopolysaccharidosis type IVB  
mucosulfatidosis  
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
muscular dystrophy-dystroglycanopathy +   
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Native American myopathy  
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
NEMO Mutation with Immunodeficiency 
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
neurodevelopmental disorder with midbrain and hindbrain malformations  
neurogenic arthrogryposis multiplex congenita +   
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
NGLY1-deficiency  
Nijmegen breakage syndrome +   
Non-Lissencephalic Cortical Dysplasia 
nonphotosensitive trichothiodystrophy +   
Noonan syndrome 2  
Norman-Roberts syndrome  
Obesity, Hyperphagia, and Developmental Delay  
oculocutaneous albinism +   
Ogden syndrome  
Oguchi disease-1  
Oguchi disease-2  
Oliver-McFarlane syndrome  
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome V  
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteoporosis-pseudoglioma syndrome  
Osteosclerotic Metaphyseal Dysplasia  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
pantothenate kinase-associated neurodegeneration +   
Papillon-Lefevre disease +   
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 19A  
Parkinson's disease 2  
Parkinson's disease 20  
Parkinson's disease 23  
Parkinson's disease 6  
Parkinson's disease 7  
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
Partington Anderson Syndrome 
Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain 
Pendred syndrome  
pentosuria  
Periodic Fever, Menstrual Cycle-Dependent  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
PFAPA Syndrome  
phagocyte bactericidal dysfunction +   
PHARC syndrome  
Pierpont syndrome  
Pierson syndrome  
Pitt-Hopkins-like syndrome 2  
plasminogen deficiency type I  
poikiloderma with neutropenia  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
postaxial acrofacial dysostosis  
primary autosomal recessive microcephaly +   
progeria +   
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
progressive myoclonus epilepsy 10  
progressive myoclonus epilepsy 1A  
progressive myoclonus epilepsy 1B  
progressive myoclonus epilepsy 3  
progressive myoclonus epilepsy 4  
progressive myoclonus epilepsy 6  
progressive myoclonus epilepsy 8  
progressive myoclonus epilepsy 9  
progressive pseudorheumatoid arthropathy of childhood  
prolidase deficiency  
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
Properdin Deficiency, X-Linked  
prothrombin deficiency +   
prune belly syndrome +   
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyridoxine-responsive sideroblastic anemia 
pyruvate kinase deficiency of red cells  
Rajab Syndrome  
rapadilino syndrome  
recessive dystrophic epidermolysis bullosa  
Refsum Disease with Increased Pipecolic Acidemia 
reticular dysgenesis  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa with or without situs inversus  
rhizomelic chondrodysplasia punctata +   
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 1  
Roberts syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Ruijs-Aalfs syndrome  
salt and pepper syndrome  
SC phocomelia syndrome  
Schimke immuno-osseous dysplasia  
Schwartz-Jampel syndrome 1  
sclerosteosis 1  
sclerosteosis 2  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
sepiapterin reductase deficiency  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Short Stature, Developmental Delay, and Congenital Heart Defects  
sickle cell anemia +   
SIDDIQI SYNDROME  
sideroblastic anemia 1  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
An autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. (OMIM)
Silverman-Handmaker type dyssegmental dysplasia  
sitosterolemia +   
Sjogren-Larsson syndrome +   
SNIJDERS BLOK-FISHER SYNDROME  
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
spinal muscular atrophy with progressive myoclonic epilepsy  
Splenic Hypoplasia  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
T cell deficiency +  
T Cell Immunodeficiency Primary  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Thumb Agenesis, Short Stature, and Immunodeficiency 
torsion dystonia 17 
torsion dystonia 2  
transient bullous dermolysis of the newborn  
trichohepatoenteric syndrome +   
trimethylaminuria  
triple-A syndrome  
Troyer syndrome  
Tuftsin Deficiency 
Turnpenny-Fry Syndrome  
Ullrich congenital muscular dystrophy +   
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
Van Maldergem syndrome +   
ventriculomegaly - cystic kidney disease  
VERVERI-BRADY SYNDROME  
Vici syndrome  
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warsaw breakage syndrome  
WEISS-KRUSZKA SYNDROME  
Werner syndrome +   
WHIM syndrome  
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-linked sideroblastic anemia with ataxia  
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: SIFD
Primary IDs: OMIM:616084
Alternate IDs: RDO:9001555
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23553769, https://www.ncbi.nlm.nih.gov/pubmed/25193871

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.