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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 the AMMECR1 gene on chromosome Xq23. (DO)
Synonyms:exact_synonym: AMMECR1-RELATED CONDITION;   MFHIEN
 primary_id: MIM:300990



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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: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487
JBrowse link
G Gng5-ps4 G protein subunit gamma 5, pseudogene 4 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr11:44,627,213...44,627,733
Ensembl chr11:44,627,300...44,627,503
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 18973
    syndrome 10901
      midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 4
Path 2
Term Annotations click to browse term
  disease 18973
    Pathological Conditions, Signs and Symptoms 13385
      Signs and Symptoms 10876
        Neurologic Manifestations 10114
          sensory system disease 7036
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 4
paths to the root