JSON

NPHP3-related Meckel-like syndrome

^ http://purl.obolibrary.org/obo/MONDO_0009966

Term info

database cross reference
  • UMLS:C2673885 (Orphanet:3032/e)
  • OMIM:267010 (Orphanet:3032/e)
  • Orphanet:3032 (OMIM:267010)
  • DOID:0070121 (MONDO:equivalentTo)
  • GARD:0004665 (MONDO:equivalentTo)
  • PMID:18371931 (DOID:0070121)
  • MESH:C537756 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
MKS7 [ DOID:0070121 OMIM:267010 MONDO:Lexical ]

exactMatch

http://identifiers.org/mesh/C537756, https://omim.org/entry/267010, http://linkedlifedata.com/resource/umls/id/C2673885, http://purl.obolibrary.org/obo/Orphanet_3032, http://purl.obolibrary.org/obo/DOID_0070121

has exact synonym

Goldston syndrome, MKS7, NPHP3-related Meckel-like syndrome, Meckel-Gruber syndrome, type 7, Meckel-like syndrome type 1, renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome, Meckel syndrome type 7

has related synonym

Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia, Meckel syndrome 7, Meckel syndrome, type 7, renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst

id

MONDO:0009966

seeAlso

https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia