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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:inflammatory poikiloderma with hair abnormalities and acral keratoses
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Accession:DOID:0070510 term browser browse the term
Definition:A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. (DO)
Synonyms:exact_synonym: IPHAK;   LIPHAK;   LIPHAK syndrome
 primary_id: OMIM:620199
 alt_id: DOID:9001883


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inflammatory poikiloderma with hair abnormalities and acral keratoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM
ClinVar		 PMID:34999892 NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        pigmentation disease 277
          inflammatory poikiloderma with hair abnormalities and acral keratoses 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              keratosis 185
                palmoplantar keratosis 44
                  inflammatory poikiloderma with hair abnormalities and acral keratoses 1
paths to the root