loading...| Preferred Name | Occipital horn syndrome | |
| Synonyms |
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| Definitions |
A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_198 |
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| definition |
A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=198 |
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| has_age_of_onset |
Childhood Infancy Neonatal |
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| has_inheritance |
X-linked recessive |
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| hasDbXref |
OMIM:304150 MeSH:C537860 ICD-11:LD28.2 UMLS:C0268353 ICD-10:E83.0 |
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| label |
Occipital horn syndrome |
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| notation |
ORPHA:198 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_209 http://www.orpha.net/ORDO/Orphanet_309839 |
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| prefixIRI |
ORDO:Orphanet_198 |
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| prefLabel |
Occipital horn syndrome |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 35.0 (Case) |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_209 http://www.orpha.net/ORDO/Orphanet_309839 |
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| subClassOf |