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loading...| Preferred Name |
distal arthrogryposis type 2B |
| Synonyms |
DA2B |
| Definitions |
A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111599 |
| database_cross_reference |
SNOMEDCT_US_2021_09_01:715216008 ORDO:1147 MESH:C538400 |
| definition |
A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. |
| has exact synonym |
DA2B Sheldon-Hall syndrome Freeman-Sheldon syndrome variant |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111599 |
| in_subset | |
| label |
distal arthrogryposis type 2B |
| notation |
DOID:0111599 |
| prefLabel |
distal arthrogryposis type 2B |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C538400 | Medical Subject Headings | LOOM |