ONTOLOGY REPORT - ANNOTATIONS


Term:Ichthyosis Follicularis Atrichia Photophobia Syndrome
go back to main search page
Accession:DOID:9006410 term browser browse the term
Synonyms:exact_synonym: ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA;   Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome;   Ifap syndrome with or without Bresheck syndrome
 primary_id: MESH:C536085;   RDO:0001513
 alt_id: OMIM:308205
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Ichthyosis Follicularis Atrichia Photophobia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Ichthyosis Follicularis Atrichia Photophobia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            hair disease 204
              hypotrichosis 96
                alopecia 75
                  Ichthyosis Follicularis Atrichia Photophobia Syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.