JSON

muscular dystrophy-dystroglycanopathy, type A

Go to external page http://purl.obolibrary.org/obo/MONDO_0000171

Synonyms: WWS hard syndrome Walker-Warburg muscular dystrophy Walker-Warburg syndrome hydrocephalus-agyria-retinal dysplasia syndrome cerebroocular dysplasia-muscular dystrophy syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0265221 (Orphanet:899)
  • MESH:D058494 (Orphanet:899/e)
  • Orphanet:899 (MONDO:equivalentTo)
  • GARD:2599 (Orphanet:899)
  • SCTID:111504002 (MONDO:equivalentTo)
  • DOID:0050560 (MONDO:equivalentTo)
  • OMIMPS:236670 (MONDO:equivalentTo)
  • NCIT:C99109 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

exactMatch

https://omim.org/phenotypicSeries/PS236670

http://identifiers.org/mesh/D058494

http://www.orpha.net/ORDO/Orphanet_899

http://purl.obolibrary.org/obo/NCIT_C99109

http://identifiers.org/snomedct/111504002

http://purl.obolibrary.org/obo/DOID_0050560

http://linkedlifedata.com/resource/umls/id/C0265221

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018869

http://purl.obolibrary.org/obo/MONDO_0020247

http://purl.obolibrary.org/obo/MONDO_0016156

http://purl.obolibrary.org/obo/MONDO_0016184

http://purl.obolibrary.org/obo/MONDO_0700066

http://purl.obolibrary.org/obo/MONDO_0016185

http://purl.obolibrary.org/obo/MONDO_0700068

has related synonym

hard +/- E syndrome

Chemke syndrome

Pagon syndrome

hydrocephalus, agyria and retinal dysplasia

Warburg syndrome

cerebroocular dysgenesis

cerebroocular dysplasia muscular dystrophy syndrome

id

MONDO:0000171

Term relations