Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

autosomal anomaly
Synonyms

chromosomal anomaly of autosome

autosome chromosomal anomaly

Definitions

Chromosomal disorder in which the chromosomal anomaly involves an autosome.

ID

http://purl.obolibrary.org/obo/MONDO_0020049

database_cross_reference

UMLS:C5681496

Orphanet:98127

MEDGEN:1843454

GARD:19417

definition

Chromosomal disorder in which the chromosomal anomaly involves an autosome.

disease has location

http://purl.obolibrary.org/obo/GO_0030849

exactMatch

http://identifiers.org/medgen/1843454

http://purl.obolibrary.org/obo/Orphanet_98127

http://linkedlifedata.com/resource/umls/id/C5681496

has_exact_synonym

chromosomal anomaly of autosome

autosome chromosomal anomaly

id

MONDO:0020049

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

autosomal anomaly

notation

MONDO:0020049

preferred label

autosomal anomaly

prefLabel

autosomal anomaly

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019040

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