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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:X-linked chondrodysplasia punctata 1
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Accession:DOID:0060292 term browser browse the term
Definition:A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity. (DO)
Synonyms:exact_synonym: Brachytelephalangic Chondrodysplasia Punctata;   CDPX1;   CPXR;   X-linked recessive chondrodysplasia punctata 1;   arylsulfatase E deficiency;   chondrodystrophia calcificans congenita
 related_synonym: Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
 primary_id: MESH:C580533
 alt_id: MESH:C535941;   OMIM:302950;   OMIM:602497
 xref: ICD10CM:Q77.3;   ORDO:35173
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arse arylsulfatase E ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 1, X-linked recessive
ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 PMID:9863597 PMID:12567415 PMID:18348268 PMID:18414213 PMID:23470839 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 2:122,876,645...122,884,673
Ensembl chr 2:122,877,286...122,884,360
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      chondrodysplasia punctata 7
        X-linked chondrodysplasia punctata 1 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                chondrodysplasia punctata 7
                  X-linked chondrodysplasia punctata 1 3
paths to the root