Human Disease Ontology 123

Last uploaded: September 28, 2023
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Preferred Name

distal arthrogryposis
Synonyms

Arthrogryposis Multiplex Congenita
Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A muscle tissue disease characterized by congenital joint contractures of hand and feet.
ID

http://purl.obolibrary.org/obo/DOID_0050646
comment

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

ORDO:97120

ORDO:1147

OMIM:PS108120

GARD:786
definition

A muscle tissue disease characterized by congenital joint contractures of hand and feet.
has exact synonym

Arthrogryposis Multiplex Congenita
has_obo_namespace

disease_ontology
id

DOID:0050646
in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

distal arthrogryposis
notation

DOID:0050646
prefLabel

distal arthrogryposis
subClassOf

http://purl.obolibrary.org/obo/DOID_66
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU058057 Online Mendelian Inheritance in Man LOOM