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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
  • icd11.foundation:340127408 (MONDO:equivalentTo)
  • MEDGEN:337518 (MONDO:equivalentTo)
  • UMLS:C1846142 (MONDO:equivalentTo)
  • Orphanet:3322 (MONDO:equivalentTo)
  • GARD:346 (MONDO:GARD)
  • SCTID:707276009 (MONDO:equivalentTo)
  • MESH:C536068 (Orphanet:3322/e)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, matrix_txgnn_grouping_cancer_or_benign_tumor, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, obsoletion_candidate, nord_rare, matrix_included, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_integumentary_system_disorder, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, susceptibility_mondo, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

comment

Reason of obsoletion: duplicate. This will be merged with MONDO:0010584 dyskeratosis congenita, X-linked

exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/340127408

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

term tracker item

https://github.com/monarch-initiative/mondo/issues/8583