Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
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 PMID:28492532 PMID:30431684 NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome OMIM
ClinVar
PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9281
      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 16063
    Pathological Conditions, Signs and Symptoms 11025
      Signs and Symptoms 9123
        Neurologic Manifestations 8823
          sensory system disease 6154
            skin disease 3492
              hair disease 296
                hypotrichosis 124
                  alopecia 79
                    IFAP Syndrome 3
                      Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 1
                      ichthyosis follicularis-alopecia-photophobia syndrome 1 3
paths to the root