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ONTOLOGY REPORT - ANNOTATIONS


Term:focal dermal hypoplasia
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Accession:DOID:2120 term browser browse the term
Definition:A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.
Synonyms:exact_synonym: DHOF;   FDH;   FODH;   Goltz Gorlin syndrome;   Goltz syndrome;   Goltz's Syndrome;   Goltzs syndrome;   focal dermal hypoplasias
 primary_id: MESH:D005489
 alt_id: OMIM:305600;   RDO:0001952
 xref: GARD:6457;   NCI:C84715;   OMIM:PS136500;   ORDO:2092
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focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Porcn porcupine O-acyltransferase JBrowse link X 15,035,569 15,048,440 RGD:7240710
RGD:8554872
RGD:11554173
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:11554173
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:11554173
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      ectodermal dysplasia 252
        focal dermal hypoplasia 4
          Facial Ectodermal Dysplasia 2
          Focal Facial Dermal Dysplasia 1
          Focal Facial Dermal Dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                ectodermal dysplasia 252
                  focal dermal hypoplasia 4
                    Facial Ectodermal Dysplasia 2
                    Focal Facial Dermal Dysplasia 1
                    Focal Facial Dermal Dysplasia 4 1
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.