loading...| Preferred Name | Brachydactyly type A2 | |
| Synonyms |
Brachydactyly, Mohr-Wriedt type |
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| Definitions |
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_93396 |
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| alternative_term |
Brachydactyly, Mohr-Wriedt type |
|
| definition |
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. |
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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=93396 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
UMLS:C1832702 OMIM:112600 MeSH:C537089 ICD-11:LD26.1 ICD-10:Q73.8 |
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| label |
Brachydactyly type A2 |
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| notation |
ORPHA:93396 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_93396 |
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| prefLabel |
Brachydactyly type A2 |
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| present_in |
Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |