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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 Photophobia Syndrome;   ichthyosis follicularis, atrichia, and photophobia syndrome;   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 chr15:37,377,313...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:10694306, 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      ichthyosis follicularis-alopecia-photophobia syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            hair disease 261
              hypotrichosis 126
                alopecia 92
                  ichthyosis follicularis-alopecia-photophobia syndrome 1 2
paths to the root

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