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focal dermal hypoplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0010592

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. [ Orphanet:2092 ]

Synonyms: focal dermal hypoplasia, X-linked dominant focal dermal hypoplasia Goltz-Gorlin syndrome Goltz syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0016395 (Orphanet:2092/e)
  • DOID:2120 (MONDO:equivalentTo)
  • OMIM:305600 (Orphanet:2092/e)
  • NORD:1152 (MONDO:NORD)
  • SCTID:205573006 (MONDO:equivalentTo)
  • ICD9:757.39 (MONDO:relatedTo)
  • GARD:6457 (Orphanet:2092)
  • NCIT:C84715 (MONDO:equivalentTo)
  • MESH:D005489 (Orphanet:2092/e)
  • Orphanet:2092 (OMIM:305600)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/305600

http://identifiers.org/snomedct/205573006

http://www.orpha.net/ORDO/Orphanet_2092

http://identifiers.org/mesh/D005489

http://purl.obolibrary.org/obo/NCIT_C84715

http://purl.obolibrary.org/obo/DOID_2120

http://linkedlifedata.com/resource/umls/id/C0016395

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019294

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0003900

http://purl.obolibrary.org/obo/MONDO_0015160

http://purl.obolibrary.org/obo/MONDO_0020119

http://purl.obolibrary.org/obo/MONDO_0020237

http://purl.obolibrary.org/obo/MONDO_0019287

has related synonym

Goltz Gorlin syndrome

FDH

DHOF

Fodh

id

MONDO:0010592

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010592