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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:familial woolly hair syndrome
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Accession:DOID:0111572 term browser browse the term
Definition:A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. (DO)
Synonyms:exact_synonym: Frizzy hair syndrome;   congenital woolly hair;   familial wooly hair syndrome;   hereditary woolly hair syndrome;   hereditary wooly hair syndrome;   woolly hair;   woolly hair syndrome;   wooly hair
 primary_id: MESH:C536745
 xref: GARD:5597;   ORDO:170
For additional species annotation, visit the Alliance of Genome Resources.



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familial woolly hair syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Liph lipase H ISO CTD Direct Evidence: marker/mechanism CTD PMID:23066499 NCBI chr11:79,032,229...79,081,625 JBrowse link
Autosomal Recessive Woolly Hair term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:84,267,600...84,276,312
Ensembl chr10:84,267,399...84,274,965
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Autosomal recessive woolly hair
ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
ClinVar PMID:18297072 PMID:18461368 PMID:21426374 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS ClinVar PMID:18297072 PMID:21426374 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
autosomal recessive woolly hair 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO ClinVar Annotator: match by term: Autosomal Recessive Hypotrichosis with Woolly Hair
ClinVar Annotator: match by OMIM:616760
ClinVar
OMIM
PMID:24824130 PMID:26160856 PMID:26902920 NCBI chr10:84,267,600...84,276,312
Ensembl chr10:84,267,399...84,274,965
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO 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: Carvajal syndrome
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605676
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
OMIM
ClinVar
CTD
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:15941723 PMID:16628197 PMID:16774985 PMID:20940358 PMID:21606396 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair OMIM
ClinVar
PMID:24671081 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      integumentary system disease 2956
        hair disease 246
          familial woolly hair syndrome 6
            Autosomal Recessive Woolly Hair + 3
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 2
            autosomal dominant woolly hair 0
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
              familial woolly hair syndrome 6
                Autosomal Recessive Woolly Hair + 3
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 2
                autosomal dominant woolly hair 0
paths to the root