loading...| Preferred Name | occipital horn syndrome | |
| Synonyms |
Ehlers-Danlos syndrome, occipital horn type EDS9, formerly EDS IX, formerly cutis laxa X-linked Ehlers-Danlos syndrome, occipital horn type, formerly EDS IX (formerly) Ehlers-Danlos syndrome, occipital horn type (formerly) cutis laxa, X-linked, formerly cutis laxa, X-linked EDS9 OHS Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX occipital horn syndrome, X-linked recessive occipital horn syndrome X-linked cutis laxa EDS IX |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010572 |
|
| database_cross_reference |
MEDGEN:82793 OMIM:304150 NANDO:2200581 DOID:0111272 MESH:C537860 UMLS:C0268353 SCTID:59399004 NANDO:1200654 Orphanet:198 GARD:4017 |
|
| 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. |
|
| has_exact_synonym |
Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX occipital horn syndrome, X-linked recessive occipital horn syndrome X-linked cutis laxa EDS IX |
|
| has_related_synonym |
Ehlers-Danlos syndrome, occipital horn type EDS9, formerly EDS IX, formerly cutis laxa X-linked Ehlers-Danlos syndrome, occipital horn type, formerly EDS IX (formerly) Ehlers-Danlos syndrome, occipital horn type (formerly) cutis laxa, X-linked, formerly cutis laxa, X-linked EDS9 OHS |
|
| IAO_0000233 | ||
| id |
MONDO:0010572 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
occipital horn syndrome |
|
| notation |
MONDO:0010572 |
|
| preferred label |
occipital horn syndrome |
|
| prefLabel |
occipital horn syndrome |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_198 http://purl.obolibrary.org/obo/DOID_0111272 http://linkedlifedata.com/resource/umls/id/C0268353 http://identifiers.org/medgen/82793 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100237 http://purl.obolibrary.org/obo/MONDO_0015327 |