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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 16122
    syndrome 7057
      chondrodysplasia punctata 7
        X-linked chondrodysplasia punctata 1 3
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          bone disease 2988
            bone development disease 1317
              osteochondrodysplasia 446
                chondrodysplasia punctata 7
                  X-linked chondrodysplasia punctata 1 3
paths to the root