loading...| Preferred Name |
craniometaphyseal dysplasia |
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| Synonyms |
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| Definitions |
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015465 |
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| database_cross_reference |
ICD9:756.89 OMIMPS:123000 DOID:0080033 Orphanet:1522 NANDO:2201366 SCTID:36601008 GARD:15013 NORD:1013 |
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| definition |
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
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| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_1522 http://purl.obolibrary.org/obo/DOID_0080033 |
|
| id |
MONDO:0015465 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
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| label |
craniometaphyseal dysplasia |
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| notation |
MONDO:0015465 |
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| preferred label |
craniometaphyseal dysplasia |
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| prefLabel |
craniometaphyseal dysplasia |
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| subClassOf | ||
| excluded_subClassOf |