loading...| Preferred Name |
Thrombocytopenia-absent radius syndrome |
|
| Synonyms |
TAR syndrome |
|
| Definitions |
A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3320 |
|
| alternative_term |
TAR syndrome |
|
| definition |
A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:Q87.2 OMIM:274000 MedDRA:10071719 UMLS:C0175703 MeSH:C536940 ICD-11:LD2F.1Y |
|
| label |
Thrombocytopenia-absent radius syndrome |
|
| notation |
ORPHA:3320 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_477794 |
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| prefixIRI |
ORDO:Orphanet_3320 |
|
| prefLabel |
Thrombocytopenia-absent radius syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_477794 |
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| subClassOf |