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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:palmoplantar keratoderma and woolly hair
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Accession:DOID:0070554 term browser browse the term
Definition:A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: PPKWH;   SFWHS;   Skin Fragility-Woolly Hair Syndrome;   keratoderma with woolly hair type IV;   woolly hair-palmoplantar keratoderma syndrome type 4
 alt_id: DOID:9005974;   DOID:9007018
 xref: MESH:C564359;   MIM:616099;   MONDO:0014492;   ORDO:420686


show annotations for term's descendants           Sort by:
palmoplantar keratoderma and woolly hair term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair OMIM
ClinVar		 PMID:24671081 PMID:25741868 PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:36689522 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192 		JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
OMIM:605676
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19049
    sensory system disease 7253
      skin disease 4198
        hair disease 328
          familial woolly hair syndrome 9
            palmoplantar keratoderma and woolly hair 5
              Carvajal syndrome + 3
Path 2
Term Annotations click to browse term
  disease 19049
    Pathological Conditions, Signs and Symptoms 13530
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7253
            skin disease 4198
              Genetic Skin Diseases 1886
                palmoplantar keratosis 43
                  nonepidermolytic palmoplantar keratoderma 13
                    palmoplantar keratoderma and woolly hair 5
                      Carvajal syndrome + 3
paths to the root