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Hoyeraal-Hreidarsson syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018045

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. [ Orphanet:3322 ]

Synonyms: progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:346 (MONDO:GARD)
  • MEDGEN:337518 (MONDO:equivalentTo)
  • MESH:C536068 (Orphanet:3322/e)
  • SCTID:707276009 (MONDO:equivalentTo)
  • UMLS:C1846142 (MONDO:equivalentTo)
  • Orphanet:3322 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/medgen/337518

http://linkedlifedata.com/resource/umls/id/C1846142

http://identifiers.org/snomedct/707276009

http://www.orpha.net/ORDO/Orphanet_3322

http://identifiers.org/mesh/C536068

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

has related synonym

Hoyeraal Hreidarsson syndrome

Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia

id

MONDO:0018045