loading...| Preferred Name |
parietal foramina with cleidocranial dysplasia |
| Synonyms |
cleidocranial dysplasia with parietal foramina parietal foramina with cleidocranial dysostosis PFMCCD parietal foramina with clavicular hypoplasia parietal foramina with cleidocranial dysplasia |
| Definitions |
Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008198 |
| database_cross_reference |
UMLS:C1868597 OMIM:168550 Orphanet:251290 MESH:C566825 |
| definition |
Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. |
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C1868597 |
| has_exact_synonym |
parietal foramina with cleidocranial dysostosis parietal foramina with cleidocranial dysplasia |
| has_related_synonym |
cleidocranial dysplasia with parietal foramina PFMCCD parietal foramina with clavicular hypoplasia |
| id |
MONDO:0008198 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
parietal foramina with cleidocranial dysplasia |
| notation |
MONDO:0008198 |
| prefLabel |
parietal foramina with cleidocranial dysplasia |
| treeView | |
| subClassOf |