Mondo Disease Ontology

Last uploaded: December 3, 2024
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Preferred Name

obsolete trichorhinophalangeal syndrome type I or III
Synonyms

trichorhinophalangeal syndrome type 1 and 3
Definitions

OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
ID

http://purl.obolibrary.org/obo/MONDO_0019176
Obsolete

true
database_cross_reference

Orphanet:77258
definition

OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
deprecated

true
has_exact_synonym

trichorhinophalangeal syndrome type 1 and 3
IAO_0000231

http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/6749

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

https://github.com/monarch-initiative/mondo/issues/5114
id

MONDO:0019176
in_subset

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

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

obsolete trichorhinophalangeal syndrome type I or III
notation

MONDO:0019176
prefLabel

obsolete trichorhinophalangeal syndrome type I or III
skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_77258
terms_conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/disease_or_disease_like.yaml
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