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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:midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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Accession:DOID:0111859 term browser browse the term
Definition:A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in AMMECR1 on chromosome Xq23. (DO)
Synonyms:exact_synonym: MFHIEN
 primary_id: OMIM:300990
For additional species annotation, visit the Alliance of Genome Resources.


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midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar
OMIM
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:29174631 NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794
JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:106,288,019...106,448,642
Ensembl chr  X:106,289,371...106,448,640
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1907
          anemia 429
            normocytic anemia 201
              hemolytic anemia 201
                congenital hemolytic anemia 155
                  hereditary elliptocytosis 10
                    midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
paths to the root