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Ontology Browser

Term:
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (DOID:9001356)
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Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
3p deletion syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Al-Raqad Syndrome  
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
alpha-thalassemia myelodysplasia syndrome  
AMME complex  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
Antibody Deficiency due to Defect in CD19 
Aphalangia Syndactyly Microcephaly 
apraxia +   
Arthrogryposis Multiplex Congenita Whistling Face 
Asparagine Synthetase Deficiency  
Asymmetric Short Stature Syndrome 
ataxia telangiectasia +   
Au-Kline Syndrome  
Auriculoosteodysplasia 
autoimmune disease +   
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
Autoinflammation, Immunde Dysregulation, and Eosinophilia  
autosomal dominant familial periodic fever  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bainbridge-Ropers Syndrome  
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Bone Marrow Failure Syndrome 1  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
brachydactyly type E2  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
C syndrome  
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
CEBALID Syndrome  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Childhood-Onset Chorea with Psychomotor Retardation  
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Clark-Baraitser syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
CODAS syndrome  
Coffin Syndrome 1 
combined immunodeficiency +   
Combined Inflammatory and Immunologic Defect 
combined oxidative phosphorylation deficiency 2  
complement deficiency +   
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Crouzon syndrome +   
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Daish Hardman Lamont Syndrome 
Davenport Donlan Syndrome 
De Hauwere Leroy Adriaenssens syndrome 
Deltaretrovirus Infections +   
dendritic cell deficiency +   
Dermoids of Cornea 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Devriendt syndrome 
Diaminopentanuria 
Diaphanospondylodysostosis  
distal arthrogryposis type 6 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Dubowitz syndrome  
Dyschondrosteosis and Nephritis 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Edinburgh Malformation Syndrome 
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency  
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Familial Osteochondritis Dissecans  
Fanconi-like syndrome  
fetal encasement syndrome  
Fetal Growth Retardation +   
FG Syndrome 5 
Filippi Syndrome  
Floating-Harbor syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Frias Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
fumarase deficiency  
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glycogen storage disease IX +   
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Goldberg-Shprintzen syndrome  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Griscelli syndrome +   
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows  
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harel-Yoon Syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
Hecht Scott Syndrome 
Heme Oxygenase 1 Deficiency  
Hennekam syndrome +   
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
holoprosencephaly +   
Hooft Disease 
human immunodeficiency virus infectious disease +   
Humeroradial Synostosis with Craniofacial Anomalies 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hypertelorism +   
Hypoglobulinemia and Absent B Cells 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 15 +   
immunodeficiency 18  
immunodeficiency 20  
immunodeficiency 21  
immunodeficiency 27A  
immunodeficiency 27B  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 31A  
immunodeficiency 31B  
immunodeficiency 31C  
immunodeficiency 35  
immunodeficiency 38  
immunodeficiency 39  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 47  
immunodeficiency 51  
immunodeficiency 57  
immunodeficiency 65  
immunodeficiency 66  
Immunodeficiency 67  
Immunodeficiency 68  
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, 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 cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Inosine Phosphorylase Deficiency, Immune Defect Due To 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kapur Toriello Syndrome 
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Kotzot-Richter Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leichtman Wood Rohn Syndrome 
Leri-Weill dyschondrosteosis  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Lichtenstein Syndrome 
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lujan Fryns Syndrome  
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
lymphoproliferative syndrome +   
MacDermot Winter Syndrome 
Macrocephaly +   
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marshall syndrome +   
Marshall-Smith syndrome  
MASP2 Deficiency  
Maxillofacial Abnormalities +   
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Menke-Hennekam Syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
microcephaly +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
mitochondrial pyruvate carrier deficiency  
Mollica Pavone Antener Syndrome 
Monosomy 7 of Bone Marrow 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Mullegama-Klein-Martinez syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Nathalie Syndrome 
NEMO Mutation with Immunodeficiency 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
NK cell deficiency +   
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Ogden syndrome  
Okur-Chung Neurodevelopmental Syndrome  
Omodysplasia 1  
Onat Syndrome 
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osteolysis Syndrome, Recessive 
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Pallister W Syndrome 
paroxysmal nocturnal hemoglobinuria +   
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
Partington Anderson Syndrome 
Pashayan Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
phagocyte bactericidal dysfunction +   
PHGDH deficiency  
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polydysspondyly 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Premature Aging, Okamoto Type 
Prieto syndrome 
Primary Lymphedema with Myelodysplasia  
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
PSAT deficiency  
Pseudoaminopterin Syndrome 
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Qazi Markouizos syndrome 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
Refractory Anemia +   
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rodrigues Blindness 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Ruijs-Aalfs syndrome  
Say Meyer Syndrome  
Say Syndrome 
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schimke immuno-osseous dysplasia  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seemanova Lesny Syndrome 
Sener Syndrome 
sepiapterin reductase deficiency  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short Stature and Facioauriculothoracic Malformations 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
Short Stature-Obesity Syndrome 
SHORT syndrome  
SHOX-related short stature  
SIDDIQI SYNDROME  
sideroblastic anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell syndrome +   
Silver-Russell Syndrome 3  
Simosa Cranio Facial Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenic Hypoplasia  
Splenogonadal Fusion Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondyloocular Syndrome, Autosomal Recessive  
Stern Lubinsky Durrie Syndrome 
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
T cell and NK cell immunodeficiency +   
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
Tatton-Brown-Rahman Syndrome  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
trichodontoosseous syndrome  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Tsukahara Syndrome  
Tuftsin Deficiency 
Turnpenny-Fry Syndrome  
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Weaver syndrome  
Weill-Marchesani Syndrome 2  
WEISS-KRUSZKA SYNDROME  
Wellesley Carmen French Syndrome 
WHIM syndrome  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Winter Shortland Temple Syndrome  
Wittwer Syndrome  
Worth syndrome  
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome +   
ZTTK Syndrome  

Synonyms
Primary IDs: MESH:C563345
Alternate IDs: OMIM:601347

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