loading...| Preferred Name |
acromicric dysplasia |
| Synonyms |
ACMICD |
| 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111243 |
| database_cross_reference |
GARD:7 SNOMEDCT_US_2022_09_01:254090007 MESH:C535662 UMLS_CUI:C0265287 ORDO:969 OMIM:102370 |
| 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. |
| has exact synonym |
ACMICD acromicric skeletal dysplasia |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111243 |
| in_subset | |
| label |
acromicric dysplasia |
| notation |
DOID:0111243 |
| prefLabel |
acromicric dysplasia |
| subClassOf |