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Mondo Disease Ontology
Last uploaded:
February 4, 2025
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Id | http://purl.obolibrary.org/obo/MONDO_0800063
http://purl.obolibrary.org/obo/MONDO_0800063
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Preferred Name | primordial dwarfism and slender bone disorder |
Definitions |
A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.
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Synonyms | |
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death. |
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label |
primordial dwarfism and slender bone disorder
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prefLabel |
primordial dwarfism and slender bone disorder
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IAO_0000233 | |
notation |
MONDO:0800063
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in_subset | |
id |
MONDO:0800063
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subClassOf | |
type | |
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