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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: congenital woolly hair;   familial wooly hair syndrome;   frizzy 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


show annotations for term's descendants           Sort by:
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 chr34:18,269,510...18,316,664
Ensembl chr34:18,270,070...18,316,066 		JBrowse link
autosomal dominant woolly hair term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT74 keratin 74 ISO ClinVar Annotator: match by term: Autosomal dominant woolly hair OMIM
ClinVar		 PMID:20346438 PMID:21188418 NCBI chr27:2,519,244...2,528,107 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 chr 9:21,940,413...21,947,487
Ensembl chr 9:21,940,413...21,947,487 		JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis ClinVar PMID:18297072 PMID:18461368 PMID:19292720 PMID:21426374 PMID:25741868 More... NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499 		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:18461368 PMID:19292720 PMID:21426374 PMID:25741868 More... NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		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: Woolly hair, autosomal recessive 3 OMIM
ClinVar		 PMID:24824130 PMID:26160856 PMID:26902920 NCBI chr 9:21,940,413...21,947,487
Ensembl chr 9:21,940,413...21,947,487 		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 chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845 		JBrowse link
G DSP desmoplakin ISO 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
ClinVar		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr35:7,529,115...7,546,483
Ensembl chr35:7,529,159...7,545,620 		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 chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
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: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Skin fragility woolly hair syndrome
ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome		 ClinVar PMID:2450378 PMID:3198322 PMID:9229116 PMID:9536098 PMID:10395892 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		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 chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320 		JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:36689522 NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      skin disease 3751
        hair disease 314
          familial woolly hair syndrome 10
            Autosomal Recessive Woolly Hair + 3
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 5
            autosomal dominant woolly hair 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              hair disease 314
                familial woolly hair syndrome 10
                  Autosomal Recessive Woolly Hair + 3
                  PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 5
                  autosomal dominant woolly hair 1
paths to the root