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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:methylmalonic acidemia and homocysteinemia cblX type
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Accession:DOID:0111814 term browser browse the term
Definition:A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28. (DO)
Synonyms:exact_synonym: MRX3;   Mental Retardation, X-Linked 3;   combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX;   methylmalonic aciduria with homocystinuria, type cblX
 primary_id: MESH:C563136
 alt_id: OMIM:309541
 xref: ORDO:369962
For additional species annotation, visit the Alliance of Genome Resources.


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methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by OMIM:309541
ClinVar Annotator: match by term: Mental retardation 3, X-linked
OMIM
ClinVar
PMID:1870093 PMID:9536098 PMID:17576681 PMID:18414213 PMID:23000143 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Neurodevelopmental Disorders 5692
        intellectual disability 3446
          Mental Retardation, X-Linked 719
            methylmalonic acidemia and homocysteinemia cblX type 3
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        methylmalonic acidemia and homocysteinemia cblX type 3
paths to the root