Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

obsolete malformation syndrome with short stature

Synonyms

congenital malformation syndrome and short stature

malformation syndrome associated with short stature

congenital malformation syndrome associated with short stature

Definitions

Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis'

ID

http://purl.obolibrary.org/obo/MONDO_0015329

Obsolete

true

comment

Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis'

consider

MONDO:0019755

database_cross_reference

GARD:19902

SCTID:205808005

Orphanet:139021

deprecated

true

exactMatch

http://identifiers.org/snomedct/205808005

http://purl.obolibrary.org/obo/Orphanet_139021

has_exact_synonym

congenital malformation syndrome associated with short stature

malformation syndrome associated with short stature

congenital malformation syndrome and short stature

IAO_0000231

http://purl.obolibrary.org/obo/OMO_0001000

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3886

id

MONDO:0015329

in_subset

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

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

label

obsolete malformation syndrome with short stature

notation

MONDO:0015329

prefLabel

obsolete malformation syndrome with short stature

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http://purl.obolibrary.org/obo/MONDO_0015329 KTAO SAME_URI