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syndromic X-linked intellectual disability Najm type

Go to external page http://purl.obolibrary.org/obo/MONDO_0010417

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. [ Orphanet:163937 ]

Synonyms: intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant mental retardation and microcephaly with pontine and cerebellar hypoplasia intellectual disability and microcephaly with pontine and cerebellar hypoplasia MICPCH syndromic X-linked intellectual disability Najm type X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:437070 (MONDO:equivalentTo)
  • UMLS:C2677903 (MONDO:equivalentTo)
  • GARD:12669 (MONDO:GARD)
  • DOID:0060807 (MONDO:equivalentTo)
  • MESH:C567466 (MONDO:equivalentTo)
  • OMIM:300749 (Orphanet:163937/e)
  • Orphanet:163937 (OMIM:300749)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

ClinGen label
syndromic X-linked intellectual disability Najm type [ DOID:0060807 ]

abbreviation
MICPCH [ Orphanet:163937 DOID:0060807 MONDO:Lexical https://omim.org/entry/300749 ]

A synonym that is historic and discouraged
mental retardation and microcephaly with pontine and cerebellar hypoplasia [ DOID:0060807 https://omim.org/entry/300749 ]

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic, Najm type

A synonym that is historic and discouraged
mental retardation and microcephaly with PONTINE and cerebellar hypoplasia [ MONDO:Lexical ]

exactMatch

http://identifiers.org/medgen/437070

http://linkedlifedata.com/resource/umls/id/C2677903

http://www.orpha.net/ORDO/Orphanet_163937

http://identifiers.org/mesh/C567466

https://omim.org/entry/300749

http://purl.obolibrary.org/obo/DOID_0060807

has related synonym

intellectual disability, X-linked, syndromic, Najm type

mental retardation and microcephaly with PONTINE and cerebellar hypoplasia

X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia

Micpch syndrome

intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia

mental retardation, X-linked, syndromic, Najm type

X-linked intellectual disability, Najm type

microcephaly with pontine and cerebellar hypoplasia

id

MONDO:0010417

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521