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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)
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
3MC syndrome +   
3MC syndrome 3  
ABCD syndrome  
Abuse Dwarfism Syndrome 
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
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 +   
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
Al Gazali Sabrinathan Nair Syndrome 
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 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 type IV Ehlers-Danlos syndrome 
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  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloom syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Bowen-Conradi syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
CARD11 Immunodeficiency  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CD3epsilon deficiency 
CD3gamma deficiency 
Cd4+ Lymphocyte Deficiency  
CD40 deficiency  
CD8 Deficiency, Familial  
CEDNIK syndrome  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
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  
Chediak-Higashi syndrome +   
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
cleft lip-palate-ectodermal dysplasia syndrome  
Cockayne syndrome +   
Cohen Syndrome  
cold-induced sweating syndrome +   
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 T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement component 9 deficiency  
complement deficiency +   
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
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 Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital generalized lipodystrophy type 4  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
congenital muscular dystrophy-dystroglycanopathy type A +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
craniolenticulosutural dysplasia  
cystic fibrosis +   
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
dilated cardiomyopathy with woolly hair and keratoderma +   
Donnai-Barrow syndrome  
Donohue syndrome +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Ehlers-Danlos syndrome progeroid type +   
Ellis-Van Creveld syndrome +   
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
familial erythrocytosis 2  
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  
Fever of Unknown Origin +   
fibular hypoplasia and complex brachydactyly  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Fraser syndrome +   
fumarase deficiency  
Galloway-Mowat syndrome +   
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
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  
Griscelli syndrome +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
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 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
Hermansky-Pudlak syndrome +   
human immunodeficiency virus infectious disease +   
hydrolethalus syndrome +   
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
hypermethioninemia due to adenosine kinase deficiency  
hypertelorism, microtia, facial clefting syndrome 
Hypochromic Microcytic Anemia with Iron Overload 1  
Hypoglobulinemia and Absent B Cells 
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  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IL21R Immunodeficiency  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS  
Immunodeficiency 12  
Immunodeficiency 14  
IMMUNODEFICIENCY 15A  
Immunodeficiency 15B  
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 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 without Anhidrotic Ectodermal Dysplasia  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
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  
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
JMP syndrome  
Johanson-Blizzard syndrome  
Kahrizi syndrome  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Kotzot-Richter Syndrome 
Lamb-Shaffer Syndrome  
Laron syndrome +   
Laurence-Moon syndrome  
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 +   
Marinesco-Sjogren syndrome  
MASP2 Deficiency  
McKusick-Kaufman syndrome  
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  
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  
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  
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 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  
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
NEMO Mutation with Immunodeficiency 
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Nijmegen breakage syndrome +   
Non-Lissencephalic Cortical Dysplasia 
nonphotosensitive trichothiodystrophy +   
Obesity, Hyperphagia, and Developmental Delay  
oculocutaneous albinism +   
Ogden syndrome  
Oliver-McFarlane Syndrome  
orofaciodigital syndrome V  
osteoporosis-pseudoglioma syndrome  
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 2  
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  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
postaxial acrofacial dysostosis  
progeria +   
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
prothrombin deficiency +   
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
pyridoxine-responsive sideroblastic anemia 
Rajab Syndrome  
rapadilino syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
Roberts syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Ruijs-Aalfs syndrome  
salt and pepper syndrome  
SC phocomelia syndrome  
Schimke immuno-osseous dysplasia  
Schwartz-Jampel syndrome 1  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
sickle cell anemia +   
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)
Sjogren-Larsson syndrome +   
Sotos syndrome +   
spermatogenic failure 9  
Splenic Hypoplasia  
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 OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
temtamy preaxial brachydactyly 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 
trimethylaminuria  
triple-A syndrome  
Tuftsin Deficiency 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
VERVERI-BRADY SYNDROME  
Vici syndrome  
Warburg micro syndrome +   
Werner syndrome +   
WHIM syndrome  
Wolcott-Rallison syndrome  
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-linked sideroblastic anemia with ataxia  
xeroderma pigmentosum +   

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

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