Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
mandibuloacral dysplasia type A lipodystrophy (DOID:0081128)
Annotations: Rat: (2) Mouse: (2) Human: (4) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
Acro-Osteolysis +     
lipodystrophy +     
mandibuloacral dysplasia +     
Acroosteolysis Dominant Type  
complete generalized lipodystrophy +   
Hajdu-Cheney syndrome  
HIV-Associated Lipodystrophy Syndrome  
Keppen-Lubinsky Syndrome  
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis  
lipoatrophic diabetes mellitus +   
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibuloacral dysplasia type A lipodystrophy  
A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. (DO)
mandibuloacral dysplasia type B lipodystrophy  
Marfan Lipodystrophy Syndrome  
partial lipodystrophy +   
Penttinen-Aula Syndrome  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Progressive Encephalopathy, with or without Lipodystrophy  
proteosome-associated autoinflammatory syndrome +   
Van Bogaert-Hozay Syndrome 
Warburg-Cinotti Syndrome  

Synonyms
Exact Synonyms: Craniomandibular Dermatodysostosis ;   MADA ;   Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical ;   lipodystrophy type A associated with mandibuloacral dysplasia ;   mandibuloacral dysplasia with type A lipodystrophy
Narrow Synonyms: CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL ;   MANDIBULOACRAL DYSOSTOSIS
Primary IDs: MESH:C535705
Alternate IDs: DOID:9003444 ;   OMIM:248370
Xrefs: GARD:3374 ;   NCI:C123417 ;   ORDO:90153
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/19764019/ "DO" "DO"

paths to the root