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Hoyeraal-Hreidarsson syndrome

^ 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 ]

Term info

database cross reference
  • MESH:C536068 (Orphanet:3322/e)
  • GARD:0000346 (MONDO:equivalentTo)
  • UMLS:C1846142 (Orphanet:3322/e)
  • Orphanet:3322 (MONDO:equivalentTo)
  • SCTID:707276009 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_3322, http://linkedlifedata.com/resource/umls/id/C1846142, http://identifiers.org/snomedct/707276009, http://identifiers.org/mesh/C536068

has exact synonym

progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

has related synonym

Hoyeraal Hreidarsson syndrome, Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia

id

MONDO:0018045