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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:IFAP Syndrome
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Accession:DOID:9002152 term browser browse the term
Synonyms:exact_synonym: Ichthyosis Follicularis Atrichia Photophobia Syndrome;   ichthyosis follicularis, atrichia, and photophobia syndrome
 xref: OMIM:PS308205
For additional species annotation, visit the Alliance of Genome Resources.


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Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP SYNDROME 2
ClinVar Annotator: match by term: IFAP syndrome 2
OMIM
ClinVar
PMID:32497488 PMID:32902915 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by OMIM:308205
ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
OMIM
ClinVar
PMID:19361614 PMID:21426410 PMID:22105905 PMID:24313295 PMID:25741868 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:32497488 PMID:32902915 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    syndrome 7073
      IFAP Syndrome 3
        Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 1
        ichthyosis follicularis-alopecia-photophobia syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        sensory system disease 5201
          skin disease 2722
            hair disease 240
              hypotrichosis 115
                alopecia 80
                  IFAP Syndrome 3
                    Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 1
                    ichthyosis follicularis-alopecia-photophobia syndrome 1 3
paths to the root