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 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
Advanced Search (OLGA)

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:rhizomelic chondrodysplasia punctata type 1
go back to main search page
Accession:EFO:MONDO:0008972 term browser browse the term
Definition:A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.
Synonyms:exact_synonym: PEX7 rhizomelic chondrodysplasia punctata;   Pbd9;   peroxisome biogenesis disorder 9;   rhizomelic chondrodysplasia punctata caused by mutation in PEX7
 related_synonym: RCDP1;   chondrodysplasia punctata, rhizomelic form;   chondrodystrophia calcificans punctata
 alt_id: MONDO:0008972
 xref: DOID:0110851;   GARD:6049;   MEDGEN:347072;   MIM:215100;   NANDO:1200763;   ORDO:309789;   UMLS:C1859133
 see_also: https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1" xsd:anyURI {source="GARD:0006049

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            syndromic dyslipidemia 0
              rhizomelic chondrodysplasia punctata type 1 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                epilepsy 0
                  metabolic epilepsy 0
                    peroxisomal disease 0
                      peroxisome biogenesis disorder 0
                        non-Zellweger spectrum disorder 0
                          peroxisome biogenesis disorder due to PEX7 defect 0
                            rhizomelic chondrodysplasia punctata type 1 0
paths to the root