loading...| Preferred Name |
Oto-palato-digital syndrome, type II |
|
| Synonyms |
Otopalatodigital syndrome type 2 |
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| Definitions |
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/42432003 |
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| Active |
1 |
|
| altLabel |
Otopalatodigital syndrome type 2 Oto-palato-digital syndrome, type II (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
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| CTV3ID |
PKy57 |
|
| cui |
C1844696 |
|
| definition |
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. |
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| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/25723000 |
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| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/89545001 http://purl.bioontology.org/ontology/SNOMEDCT/117590005 http://purl.bioontology.org/ontology/SNOMEDCT/272673000 |
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| Has pathological process | ||
| INACTIVATION INDICATOR |
900000000000483008 |
|
| notation |
42432003 |
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| Occurs in | ||
| prefLabel |
Oto-palato-digital syndrome, type II |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~Q87.0 6011000124106~MAPGROUP~1 447562003~MAPADVICE~ALWAYS Q87.0 900000000000531004~TARGETCOMPONENT~767130007 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000490003~VALUEID~900000000000483008 900000000000497000~MAPTARGET~PKy57 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 447562003~MAPTARGET~Q87.0 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/60475009 http://purl.bioontology.org/ontology/SNOMEDCT/398302004 http://purl.bioontology.org/ontology/SNOMEDCT/25906001 http://purl.bioontology.org/ontology/SNOMEDCT/784010006 |