About: occipital horn syndrome     Goto   Sponge   NotDistinct   Permalink

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Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect

AttributesValues
rdf:type
description
  • Krankheit (de)
  • malattia (it)
  • хвороба (uk)
  • Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect (en)
exact match
exact match
health specialty
ICD-10
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
ICD-10
  • E83.0
Mondo ID
  • MONDO_0010572
DiseasesDB
  • 33413
Disease Ontology ID
  • DOID:0111272
rdfs:label
  • occipital horn syndrome (en)
  • syndrome de la corne occipitale (fr)
  • متلازمة القرن القذالي (ar)
skos:prefLabel
  • occipital horn syndrome (en)
  • syndrome de la corne occipitale (fr)
  • متلازمة القرن القذالي (ar)
name
  • occipital horn syndrome (en)
  • syndrome de la corne occipitale (fr)
  • متلازمة القرن القذالي (ar)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H01859
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-00880
Orphanet ID
  • 198
genetic association
ICD-10-CM
  • E83.0
GARD rare disease ID
  • 4017
OMIM ID
  • 304150
skos:altLabel
  • OHS (en)
  • Cutis Laxa, X-Linked (en)
  • Cutis Laxa, X-Linked, Formerly (en)
  • EDS IX (en)
  • EDS IX (fr)
  • EDS Ix, Formerly (en)
  • EDS9 (en)
  • EDS9, Formerly (en)
  • Ehlers-Danlos Syndrome, Occipital Horn Type (en)
  • Ehlers-Danlos syndrome type 9 (en)
  • Ehlers-Danlos syndrome type IX (en)
  • OCCIPITAL HORN SYNDROME (en)
  • OCCIPITAL HORN SYNDROME; OHS (en)
  • X-linked cutis laxa (en)
  • cutis laxa liée à l'X (fr)
  • syndrome d'Ehlers-Danlos type 9 (fr)
  • syndrome d'Ehlers-Danlos type IX (fr)
  • Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly (en)
external data available at URL
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
Microsoft Academic ID
ICD-11 (foundation)
MeSH descriptor ID
Microsoft Academic ID
external data available at URL
UMLS CUI
  • C0268353
  • C1096660
MeSH descriptor ID
  • C537860
on focus list of Wikimedia project
Microsoft Academic ID
  • 2777224948
ICD-11 (foundation)
  • 921797768
WikiProjectMed ID
WikiProjectMed ID
  • Occipital horn syndrome
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