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Mondo Disease Ontology
| Preferred Name | brachydactyly type A1 | |
| Synonyms |
Farabee-type brachydactyly brachydactyly, type A1 brachydactyly Farabee type BDA1 Farabee type brachydactyly brachydactyly, Farabee type |
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| Definitions |
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007215 |
|
| database_cross_reference |
OMIM:112500 Orphanet:93388 UMLS:C1862151 icd11.foundation:568452529 MEDGEN:354673 MESH:C537088 SCTID:715720006 DOID:0110964 GARD:978
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|
| definition |
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.
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|
| has_exact_synonym |
BDA1 Farabee type brachydactyly brachydactyly, Farabee type
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| has_related_synonym |
Farabee-type brachydactyly brachydactyly, type A1 brachydactyly Farabee type
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| IAO_0000233 | ||
| id |
MONDO:0007215
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
brachydactyly type A1
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|
| notation |
MONDO:0007215
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|
| prefLabel |
brachydactyly type A1
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|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0110964 http://identifiers.org/medgen/354673 http://linkedlifedata.com/resource/umls/id/C1862151 http://identifiers.org/snomedct/715720006 http://identifiers.org/mesh/C537088 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/568452529 |
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