Terminology Service for NFDI4Health
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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. [ ]

Term info

Label

Hoyeraal-Hreidarsson syndrome

Synonyms
  • progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
database cross reference
Subsets

ordo_disease

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 related synonym

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

id

MONDO:0018045