Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

trichorhinophalangeal syndrome type I or III
Synonyms

trichorhinophalangeal syndrome type 1 and 3
Definitions

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
altLabel

trichorhinophalangeal syndrome type 1 and 3
definition

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.
has_exact_synonym

trichorhinophalangeal syndrome type 1 and 3
label

trichorhinophalangeal syndrome type I or III
prefixIRI

MONDO:0019176
prefLabel

trichorhinophalangeal syndrome type I or III
textual definition

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.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0017951
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