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Term:
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (DOID:9007936)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
3p- syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
agammaglobulinemia +   
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  
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
Antibody Deficiency due to Defect in CD19 
Aphalangia Syndactyly Microcephaly 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Asymmetric Short Stature Syndrome 
ataxia telangiectasia +   
Au-Kline Syndrome  
Auriculoosteodysplasia 
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
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 +   
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 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Brooks-Wisniewski-Brown syndrome 
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
Cafe-au-Lait Spots +   
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
CARD11 Immunodeficiency  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
Cellulite 
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
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 +   
cocoon syndrome  
CODAS Syndrome  
Coffin Syndrome 1 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
Combined Oxidative Phosphorylation Deficiency 2  
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement component 9 deficiency  
complement deficiency +   
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
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 Deafness Hand Syndrome  
Craniofacial Dyssynostosis 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Crouzon syndrome +   
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Daish Hardman Lamont Syndrome 
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
Dermoids of Cornea 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Devriendt syndrome 
Diaphanospondylodysostosis  
Digitorenocerebral Syndrome  
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Donohue syndrome +   
Dubowitz syndrome 
Dyschondrosteosis and Nephritis 
Ecchymosis 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Endotoxin Hyporesponsiveness  
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  
Familial Thoracic Aortic Aneurysm 6  
Fanconi-like 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 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
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 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Heme Oxygenase 1 Deficiency  
Hennekam syndrome +   
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk 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  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Idiopathic Short Stature, X-Linked  
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 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, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
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 DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
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  
Jaundice +   
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
Jorgenson Lenz Syndrome 
Kapur Toriello Syndrome 
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM  
Kosztolanyi Syndrome 
Kotzot-Richter Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Larsen Syndrome, Recessive Type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leichtman Wood Rohn Syndrome 
LEOPARD syndrome +   
Leri-Weill dyschondrosteosis  
leukocyte adhesion deficiency +   
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Lichtenstein Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Livedo Reticularis +   
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 +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
Macrocephaly +   
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 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
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  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multisystem Autoimmune Disease, with Facial Dysmorphism  
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Nathalie Syndrome 
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
Necrolytic Migratory Erythema 
NEMO Mutation with Immunodeficiency 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Neurofaciodigitorenal Syndrome 
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Noonan syndrome +   
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Ogden syndrome  
Omodysplasia Type 1  
Onat Syndrome 
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osteolysis Syndrome Recessive 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
Pallister W Syndrome 
Pallor 
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 +   
Pili Torti Developmental Delay Neurological Abnormalities 
Pilotto Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polydysspondyly 
Posterior Exchondrosis of Pinna 
Potato Nose  
Preauricular Fistulae, Congenital 
Premature Aging, Okamoto Type 
Prieto syndrome 
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
Pruritus +   
Pseudoaminopterin Syndrome 
PSPH deficiency  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
purpura +   
Qazi Markouizos syndrome 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Syndrome  
Ramon Syndrome 
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
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 
SC phocomelia syndrome  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
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 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
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, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
SHORT Syndrome  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell syndrome +   
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 
Striae Distensae +   
SWEENEY-COX SYNDROME  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
Synostosis of Talus and Calcaneus with Short Stature 
T cell deficiency +  
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
TATTON-BROWN-RAHMAN SYNDROME  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
Tricho-Dento-Osseous Syndrome  
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  
Wellesley Carmen French Syndrome 
WHIM syndrome  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winter Shortland Temple Syndrome  
Wittwer Syndrome 
Worth's syndrome  
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: FILS
Primary IDs: OMIM:615139 ;   RDO:9000298

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