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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Brachydactyly type A1 | |
| Synonyms |
Brachydactyly, Farabee type |
|
| Definitions |
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_93388 |
|
| alternative_term |
Brachydactyly, Farabee type
|
|
| definition |
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
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|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93388 |
|
| has_age_of_onset |
Infancy Neonatal
|
|
| has_inheritance |
Autosomal dominant
|
|
| hasDbXref |
UMLS:C1862151 OMIM:112500 OMIM:616849 ICD-11:LD26.1 ICD-10:Q73.8 MeSH:C537088 OMIM:607004 OMIM:615072
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|
| label |
Brachydactyly type A1
|
|
| notation |
ORPHA:93388
|
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_93388
|
|
| prefLabel |
Brachydactyly type A1
|
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown
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| treeView | ||
| subClassOf |
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