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nonsyndromic congenital nail disorder 4

^ http://purl.obolibrary.org/obo/MONDO_0008798


Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0080082 (MONDO:equivalentTo)
  • OMIM:206800 (Orphanet:94150/e)
  • Orphanet:94150 (OMIM:206800)
  • MESH:C536377 (MONDO:equivalentTo)
  • DOID:0050643 (MONDO:equivalentObsolete)
Subsets

ordo_clinical_subtype

abbreviation
NDNC4 [ MONDO:Lexical OMIM:206800 ]

definition

Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_94150, http://purl.obolibrary.org/obo/DOID_0080082, https://omim.org/entry/206800, http://identifiers.org/mesh/C536377

has exact synonym

nonsyndromic congenital nail disorder 4, isolated congenital anonychia caused by mutation in RSPO4, HYPONYCHIA congenita, nail disorder, nonsyndromic congenital, type 4, nonsyndromic congenital nail disorder type 4, RSPO4 isolated congenital anonychia

has related synonym

NDNC4, anonychia congenita, anonychia/hyponychia congenita, nail disorder, nonsyndromic congenital, 4, anonychia totalis, anonychia congenita totalis

id

MONDO:0008798

Term relations