BabelNet

bn:06294019n

Noun Named Entity

Categories: Genetic disorder stubs, Syndromes affecting blood, X-linked recessive disorders, Syndromes with microcephaly, Syndromes with mental retardation

Hoyeraal-Hreidarsson syndrome Hoyeraal–Hreidarsson syndrome Hoyeraal Hreidarsson syndrome Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

Hoyeraal–Hreidasson syndrome is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. Wikipedia

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Hoyeraal–Hreidasson syndrome is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. Wikipedia

A rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. Wikidata

IS A

disease

rare disease

syndrome

X-linked recessive inheritance

dyskeratosis congenita

GENETIC ASSOCIATION

telomerase reverse transcriptase

dyskerin

Poly(A)-specific ribonuclease

TINF2

ACD