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craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007401

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. [ Orphanet:1538 ]

Synonyms: craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Braddock-Jones-Superneau syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:998 (MONDO:GARD)
  • SCTID:720813007 (MONDO:equivalentTo)
  • UMLS:C1838347 (MONDO:equivalentTo)
  • OMIM:123155 (Orphanet:1538/e)
  • MESH:C563973 (MONDO:equivalentTo)
  • MEDGEN:325006 (MONDO:equivalentTo)
  • Orphanet:1538 (OMIM:123155)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, 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, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

abbreviation
HDCPH1 [ MONDO:Lexical ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_1538

https://omim.org/entry/123155

http://linkedlifedata.com/resource/umls/id/C1838347

http://identifiers.org/snomedct/720813007

http://identifiers.org/mesh/C563973

http://identifiers.org/medgen/325006

has related synonym

Braddock Jones Superneau syndrome

HDCPH1

Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus

hydrocephalus, autosomal dominant

sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus

id

MONDO:0007401

seeAlso

https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus