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bn:03689485n
Noun Concept
Categories: Cell surface receptor deficiencies, Rare syndromes, Growth disorders
EN
Jansen's metaphyseal chondrodysplasia  Jansen's metaphyseal chondroplasia  Jansen Disease  Jansen metaphyseal chondrodysplasia  Jansen Metaphyseal Dysostosis
EN
Jansen's metaphyseal chondrodysplasia is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations. Wikipedia
Definitions
Relations
Sources
EN
Jansen's metaphyseal chondrodysplasia is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations. Wikipedia
Rare disease discovered by the orthopedic surgeon Murk Jansen Wikipedia Disambiguation
Metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism Wikidata
A very rare disease resulting from ligand-independent activation of the type 1 parathyroid hormone receptor, leading to various physical abnormalities. Wiktionary
IS A
rare disease
genetic disease
Metaphyseal dysplasia
GENETIC ASSOCIATION
Parathyroid hormone 1 receptor
HAS PHENOTYPE
Metaphyseal dysplasia
Wikipedia
EN
Jansen's metaphyseal chondrodysplasia
Wikidata
EN
Jansen's metaphyseal chondrodysplasia
Wiktionary
EN
Jansen's metaphyseal chondrodysplasia
Wikipedia Redirections
EN
Jansen's Metaphyseal Chondrodysplasia, Jansen's metaphyseal chondroplasia, Metaphyseal chondrodysplasia, Murk Jansen type
Wikidata Alias
EN
Jansen Disease, Jansen metaphyseal chondrodysplasia, Jansen Metaphyseal Dysostosis, Murk Jansen Type Metaphyseal Chondrodysplasia

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