Aplasia cutis-myopia syndrome (original) (raw)
Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods. Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus. Only 4 cases (from the United Kingdom and Israel, respectively) have been described in medical literature. Transmission is either autosomal dominant or autosomal recessive.
| Property | Value |
|---|---|
| dbo:abstract | Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods. Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus. Only 4 cases (from the United Kingdom and Israel, respectively) have been described in medical literature. Transmission is either autosomal dominant or autosomal recessive. (en) |
| dbo:alias | Aplasia cutis congenita, high myopia, and cone-rod dysfunction (en) |
| dbo:wikiPageID | 71819694 (xsd:integer) |
| dbo:wikiPageLength | 3167 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1111805874 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Myopia dbr:Aplasia_cutis_congenita dbr:United_Kingdom dbc:Rare_genetic_syndromes dbr:Genetic_disorder dbr:Keratoconus dbr:Medical_genetics dbc:Syndromes_affecting_the_eye dbr:Israel dbr:Congenital_nystagmus |
| dbp:name | Aplasia cutis-myopia syndrome (en) |
| dbp:specialty | dbr:Medical_genetics |
| dbp:synonyms | Aplasia cutis congenita, high myopia, and cone-rod dysfunction (en) |
| dbp:wikiPageUsesTemplate | dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition |
| dct:subject | dbc:Rare_genetic_syndromes dbc:Syndromes_affecting_the_eye |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods. Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus. Only 4 cases (from the United Kingdom and Israel, respectively) have been described in medical literature. Transmission is either autosomal dominant or autosomal recessive. (en) |
| rdfs:label | Aplasia cutis-myopia syndrome (en) |
| owl:sameAs | wikidata:Aplasia cutis-myopia syndrome https://global.dbpedia.org/id/DhdAG |
| prov:wasDerivedFrom | wikipedia-en:Aplasia_cutis-myopia_syndrome?oldid=1111805874&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:Aplasia_cutis-myopia_syndrome |
| is foaf:primaryTopic of | wikipedia-en:Aplasia_cutis-myopia_syndrome |