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cranioectodermal dysplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0009032

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). [ Orphanet:1515 ]

Synonyms: cranioectodermal dysplasia CED Levin syndrome Sensenbrenner syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4551571 (MONDO:equivalentTo)
  • SCTID:254093009 (MONDO:equivalentTo)
  • NCIT:C129305 (MONDO:equivalentTo)
  • Orphanet:1515 (OMIM:218330)
  • ICD9:756.9 (MONDO:relatedTo)
  • DOID:0050577 (MONDO:equivalentTo)
  • GARD:359 (Orphanet:1515)
  • OMIMPS:218330 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_1515

http://identifiers.org/snomedct/254093009

http://purl.obolibrary.org/obo/DOID_0050577

http://linkedlifedata.com/resource/umls/id/C4551571

https://omim.org/phenotypicSeries/PS218330

http://purl.obolibrary.org/obo/NCIT_C129305

id

MONDO:0009032