loading...| Preferred Name |
Zlotogora Ogur syndrome |
|
| Synonyms |
Cleft lip and palate with syndactyly and pili torti |
|
| Definitions |
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/716248001 |
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| Active |
1 |
|
| altLabel |
Cleft lip and palate with syndactyly and pili torti Zlotogora Zilberman Tenenbaum syndrome Cleft lip and cleft palate with ectodermal dysplasia syndrome Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUtEg |
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| cui |
C2931488 |
|
| definition |
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. |
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| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20160731 |
|
| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/25723000 |
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| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/39937001 http://purl.bioontology.org/ontology/SNOMEDCT/48477009 |
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| Has pathological process | ||
| notation |
716248001 |
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| Occurs in | ||
| prefLabel |
Zlotogora Ogur syndrome |
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| Subset member |
6011000124106~MAPTARGET~Q37.9 447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPGROUP~2 6011000124106~MAPADVICE~ALWAYS Q82.4 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS Q37.9 447562003~MAPTARGET~Q37.9 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS Q37.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 900000000000497000~MAPTARGET~XUtEg 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~Q82.4 447562003~MAPTARGET~Q82.4 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS Q82.4 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/8654005 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/66948001 |