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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Absent Patella 
acromesomelic dysplasia, Grebe type  
Antecubital Pterygium 
arthrogryposis multiplex congenita +   
campomelic dysplasia +   
Cervical Rib Syndrome +  
CLOVES syndrome  
Cohen-Gibson Syndrome  
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
Congenital Hip Dislocation +   
Congenital Limb Deformities +   
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
Craniofacial Abnormalities +   
Female Pseudohermaphroditism with Skeletal Anomalies 
Funnel Chest +   
gastroschisis +   
Hajdu-Cheney syndrome  
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
Iridogoniodysgenesis and Skeletal Anomalies 
Kleefstra syndrome 2  
Klippel-Feil syndrome +   
laryngomalacia +   
microcephaly, short stature, and limb abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
Pectus Carinatum  
Pseudoarthrogryposis 
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
Short Stature with Nonspecific Skeletal Abnormalities  
Steel Syndrome  
Sternal Cleft 
Stolerman neurodevelopmental syndrome  
synostosis +   
Tracheobronchomalacia +   
Widow's Peak Syndrome 
ZTTK Syndrome  
 Aase Smith Syndrome 
 Abruzzo-Erickson syndrome  
 Acromegaloid Facial Appearance Syndrome 
 acromesomelic dysplasia-3  
 acromicric dysplasia +   
 Acropectoral Syndrome 
 Adams-Oliver syndrome +   
 ADULT syndrome  
 Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
 Arachnodactyly +   
 Atelosteogenesis Type 3  
 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
 Bagatelle Cassidy Syndrome 
 brachydactyly +   
 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
 Brachyolmia Type 1, Hobaek Type 
 Calabro Syndrome 
 Camptobrachydactyly 
 Cardioacrofacial Dysplasia +   
 Cartwright Nelson Fryns Syndrome 
 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
 CHILD syndrome  
 CHITAYAT SYNDROME  
 congenital limbs-face contractures-hypotonia-developmental delay syndrome  
 Congenital Upper Extremity Deformities +   
 Craniomicromelic Syndrome 
 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
 Distal Transverse Limb Defects with Mental Retardation and Spasticity 
 Ectrodactyly-Polydactyly 
 Ectromelia +   
 ENDOVE SYNDROME, LIMB-BRAIN TYPE  
 Feingold syndrome +   
 fetal akinesia deformation sequence syndrome X-linked 
 fetal encasement syndrome  
 Freire-Maia Odontotrichomelic Syndrome 
 Fryns Syndrome  
 Grubben de Cock Borghgraef Syndrome 
 Hand and Foot Deformity with Flat Facies 
 Hanhart Syndrome 
 Heart Defects Limb Shortening 
 hypochondroplasia  
 Hypoglossia-Hypodactylia 
 Ichthyosis Tapered Fingers Midline Groove Up 
 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
 Kaplan Plauchu Fitch Syndrome 
 Kaufman oculocerebrofacial syndrome  
 Kuster Syndrome 
 Laryngeal Atresia, Encephalocele, and Limb Deformities 
 Le Marec Bracq Picaud Syndrome 
 Lethal Faciocardiomelic Dysplasia 
 Limb-Mammary Syndrome  
 Lower Extremity Deformities, Congenital +   
 Lynch Lee Murday syndrome 
 Malformation of Arms 
 Megalodactyly  
 Mental Retardation Spasticity Ectrodactyly 
 Mesomelia-Synostoses Syndrome 
 Metaphyseal Anadysplasia +   
 Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
 Multiple Epiphyseal Dysplasia with Robin Phenotype 
 Multiple Pterygium Syndrome, X-Linked 
 Nephrosis with Deafness and Urinary Tract and Digital Malformations 
 Neu-Laxova syndrome 1  
 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
 Nievergelt Syndrome 
 Palant Cleft Palate Syndrome 
 Penttinen-Aula Syndrome  
 Peters plus syndrome  
 Pointer Syndrome 
 polydactyly +   
 postaxial acrofacial dysostosis  
 Powell Chandra Saal Syndrome 
 Proteus syndrome +   
 Radial Ray Deficiency, X-Linked 
 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
 rapadilino syndrome  
 Reardon Hall Slaney syndrome 
 Renal Dysplasia - Limb Defects Syndrome 
 Robinow syndrome +   
 Ruzicka Goerz Anton syndrome 
 Short Stature-Obesity Syndrome 
 Splenogonadal Fusion with Limb Defects and Micrognathia 
 split hand-foot malformation +   
 Split-Foot Malformation with Mesoaxial Polydactyly  
 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
 Steinfeld Syndrome 
 Stern Lubinsky Durrie Syndrome 
 Stratton-Parker Syndrome 
 syndactyly +   
 syndromic microphthalmia 6  
 Tetramelic Monodactyly 
 Tetramelic Postaxial Oligodactyly 
 thanatophoric dysplasia +   
 Thoracic Dysplasia-Hydrocephalus Syndrome 
 Thoraco Limb Dysplasia Rivera Type 
 Thoracomelic Dysplasia 
 Ulnar Hypoplasia with Mental Retardation 
 VACTERL association +   
 Viljoen Kallis Voges Syndrome 
 Weill-Marchesani Syndrome 3  
 Weyers acrofacial dysostosis  
 Wright Dyck Syndrome 
 Yunis-Varon syndrome  

Synonyms
Exact Synonyms: Congenital Limb Deformity ;   Congenital limb malformation
Narrow Synonyms: ABNORMAL RADIAL RAY MORPHOLOGY
Primary IDs: MESH:D017880
Definition Sources: MESH:D017880

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