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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | occipital horn syndrome | |
| Synonyms |
Ehlers-Danlos syndrome, occipital horn type EDS9, formerly EDS9 OHS cutis laxa X-linked Ehlers-Danlos syndrome, occipital horn type, formerly cutis laxa, X-linked Ehlers-Danlos syndrome, occipital horn type (formerly) EDS IX, formerly EDS IX (formerly) cutis laxa, X-linked, formerly EDS IX Ehlers-Danlos syndrome type IX occipital horn syndrome, X-linked recessive Ehlers-Danlos syndrome type 9 occipital horn syndrome X-linked cutis laxa |
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| Definitions |
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010572 |
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| altLabel |
Ehlers-Danlos syndrome, occipital horn type EDS9, formerly EDS9 OHS cutis laxa X-linked Ehlers-Danlos syndrome, occipital horn type, formerly cutis laxa, X-linked Ehlers-Danlos syndrome, occipital horn type (formerly) EDS IX, formerly EDS IX (formerly) cutis laxa, X-linked, formerly EDS IX Ehlers-Danlos syndrome type IX occipital horn syndrome, X-linked recessive Ehlers-Danlos syndrome type 9 occipital horn syndrome X-linked cutis laxa
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| definition |
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
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| has_exact_synonym |
EDS IX Ehlers-Danlos syndrome type IX occipital horn syndrome, X-linked recessive Ehlers-Danlos syndrome type 9 occipital horn syndrome X-linked cutis laxa
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| has_related_synonym |
Ehlers-Danlos syndrome, occipital horn type EDS9, formerly EDS9 OHS cutis laxa X-linked Ehlers-Danlos syndrome, occipital horn type, formerly cutis laxa, X-linked Ehlers-Danlos syndrome, occipital horn type (formerly) EDS IX, formerly EDS IX (formerly) cutis laxa, X-linked, formerly
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| IAO_0000233 | ||
| label |
occipital horn syndrome
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| prefixIRI |
MONDO:0010572
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| prefLabel |
occipital horn syndrome
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| textual definition |
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100237 http://purl.obolibrary.org/obo/MONDO_0015327 |
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