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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 the MBTPS2 gene 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
 xref: MESH:C536085;   MIM:308205;   MONDO:0100213



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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 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30431684 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chr  X:41,225,956...41,290,030
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 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr  X:37,438,425...37,442,047
Ensembl chr  X:37,410,811...37,464,430
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      IFAP Syndrome 4
        ichthyosis follicularis-alopecia-photophobia syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        Neurologic Manifestations 10451
          sensory system disease 7373
            skin disease 4318
              hair disease 332
                hypotrichosis 149
                  alopecia 94
                    IFAP Syndrome 4
                      ichthyosis follicularis-alopecia-photophobia syndrome 1 4
paths to the root