loading...| Preferred Name | Acromicric dysplasia | |
| Synonyms |
Acromicric skeletal dysplasia ACMICD Acromicric dysplasia |
|
| Definitions |
A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007055 |
|
| database_cross_reference |
SCTID:254090007 MEDGEN:78549 UMLS:C0265287 DOID:0111243 MESH:C535662 OMIM:102370 Orphanet:969 ICD9:756.59 icd11.foundation:1006372687 GARD:7 NORD:725 |
|
| definition |
A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
|
| has_exact_synonym |
Acromicric dysplasia |
|
| has_related_synonym |
Acromicric skeletal dysplasia ACMICD |
|
| IAO_0000233 | ||
| id |
MONDO:0007055 |
|
| 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_disorder |
|
| label |
Acromicric dysplasia |
|
| notation |
MONDO:0007055 |
|
| preferred label |
Acromicric dysplasia |
|
| prefLabel |
Acromicric dysplasia |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia |
|
| skos_exactMatch |
http://identifiers.org/snomedct/254090007 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1006372687 http://purl.obolibrary.org/obo/DOID_0111243 http://identifiers.org/medgen/78549 http://linkedlifedata.com/resource/umls/id/C0265287 |
|
| subClassOf |