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Aase-Smith syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007839

Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. [ Orphanet:916 ]

Synonyms: Aase-Smith I syndrome Aase-Smith syndrome type 1 hydrocephalus-cleft palate-joint contractures syndrome Aase-Smith syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:5642 (MONDO:GARD)
  • SCTID:718576001 (MONDO:equivalentTo)
  • MESH:C535332 (Orphanet:916/e)
  • UMLS:C0220686 (MONDO:equivalentTo)
  • MEDGEN:66316 (MONDO:equivalentTo)
  • MedDRA:10063429 (Orphanet:916/e)
  • OMIM:147800 (Orphanet:916/e)
  • Orphanet:916 (OMIM:147800)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, matrix_llm__tag_existing_treatment_other, matrix_included, nord_rare, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, orphanet_rare, harrisons_view_nervous_system_disorder

closeMatch

http://identifiers.org/meddra/10063429

exactMatch

http://linkedlifedata.com/resource/umls/id/C0220686

http://identifiers.org/snomedct/718576001

http://identifiers.org/medgen/66316

https://omim.org/entry/147800

http://www.orpha.net/ORDO/Orphanet_916

http://identifiers.org/mesh/C535332

has related synonym

Aase-Smith syndrome 1

Aase-Smith syndrome I

Joint contractures with Other abnormalities

id

MONDO:0007839