loading...| Preferred Name | acromicric dysplasia | |
| Synonyms |
ACMICD acromicric skeletal dysplasia |
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| Definitions |
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111243 |
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| database_cross_reference |
UMLS_CUI:C0265287 ORDO:969 SNOMEDCT_US_2021_09_01:254090007 GARD:7 OMIM:102370 MESH:C535662 |
|
| definition |
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. |
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| has_exact_synonym |
ACMICD acromicric skeletal dysplasia |
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| has_obo_namespace |
disease_ontology |
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| IAO_0000115 |
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. |
|
| id |
DOID:0111243 |
|
| label |
acromicric dysplasia |
|
| notation |
DOID:0111243 |
|
| note |
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. |
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| prefLabel |
acromicric dysplasia |
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| subClassOf |