Wikidata

(Q9390252)

English

Hoyeraal-Hreidarsson syndrome

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

  • Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
In more languages

Statements

instance of
rare disease
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class of disease
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subclass of
dyskeratosis congenita
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X-linked recessive
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syndrome
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Identifiers

KEGG ID
H00788
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GARD rare disease ID
346
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ICD-10
D61.0
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Mondo ID
MONDO_0018045
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OMIM ID
305000
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613989
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613990
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615190
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616353
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616553
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