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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:ichthyosis follicularis-alopecia-photophobia syndrome 1
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Accession:DOID:0111821 term browser browse the term
Definition:A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: IFAP syndrome 1;   IFAP syndrome with or without Bresheck syndrome;   IFAP syndrome-1 with or without Bresheck syndrome;   IFAP1;   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-photophobia syndrome 1
 primary_id: MESH:C536085
 alt_id: OMIM:308205
 xref: GARD:2952;   ORDO:2273
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
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 chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    syndrome 8140
      IFAP Syndrome 3
        ichthyosis follicularis-alopecia-photophobia syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        sensory system disease 5615
          skin disease 2956
            hair disease 246
              hypotrichosis 120
                alopecia 83
                  IFAP Syndrome 3
                    ichthyosis follicularis-alopecia-photophobia syndrome 1 3
paths to the root