Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

non-syndromic amelia
Synonyms

isolated amelia

amelia

nonsyndromic amelia
Definitions

A congenital malformation characterized by the complete absence of all limbs.
ID

http://purl.obolibrary.org/obo/MONDO_0017419
database_cross_reference

NCIT:C34370

MEDGEN:8014

Orphanet:294925

MedDRA:10001926

GARD:21179

HP:0009827

SCTID:62588002

UMLS:C0002447
definition

A congenital malformation characterized by the complete absence of all limbs.
has_broad_synonym

amelia
has_exact_synonym

nonsyndromic amelia
has_related_synonym

isolated amelia
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6751
id

MONDO:0017419
in_subset

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

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

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

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

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

non-syndromic amelia
notation

MONDO:0017419
prefLabel

non-syndromic amelia
skos_closeMatch

http://identifiers.org/meddra/10001926
skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0002447

http://purl.obolibrary.org/obo/Orphanet_294925

http://purl.obolibrary.org/obo/NCIT_C34370

http://identifiers.org/snomedct/62588002

http://identifiers.org/medgen/8014
treeView

http://purl.obolibrary.org/obo/MONDO_0018234

http://purl.obolibrary.org/obo/MONDO_0019713
subClassOf

http://purl.obolibrary.org/obo/MONDO_0018234

http://purl.obolibrary.org/obo/MONDO_0019713
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