loading...| Preferred Name | craniofacial microsomia | |
| Synonyms |
oculo-auriculo-vertebral dysplasia facioauriculovertebral sequence Fav sequence OAVD OAV spectrum Goldenhar syndrome facio-auriculo-vertebral spectrum oculoauriculovertebral spectrum OAV dysplasia first branchial arch syndrome Laterofacial microsomia first and second branchial arch syndrome Expanded spectrum hemifacial microsomia unilateral or bilateral and asymmetric otomandibular dysplasia oculo-auriculo-vertebral spectrum Goldenhar disease Expanded spectrum of hemifacial microsomia first arch syndrome OAV (oculoauriculovertebral) dysplasia facioauriculovertebral dysplasia otomandibular syndrome oculoauriculovertebral dysplasia oculoauriculovertebral syndrome hemifacial microsomia HFM OAVS |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015397 |
|
| database_cross_reference |
ICD9:759.89 OMIMPS:164210 SCTID:109393007 Orphanet:141136 Orphanet:141132 MEDGEN:75554 Orphanet:374 NCIT:C84740 MESH:D006053 SCTID:367462009 UMLS:C0265240 DOID:2907 GARD:12074 NORD:1518 |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0265240 http://identifiers.org/snomedct/109393007 https://omim.org/phenotypicSeries/PS164210 http://identifiers.org/snomedct/367462009 http://www.orpha.net/ORDO/Orphanet_141132 http://identifiers.org/mesh/D006053 http://purl.obolibrary.org/obo/NCIT_C84740 |
|
| has_exact_synonym |
OAV spectrum Goldenhar syndrome facio-auriculo-vertebral spectrum oculoauriculovertebral spectrum OAV dysplasia first branchial arch syndrome Laterofacial microsomia first and second branchial arch syndrome Expanded spectrum hemifacial microsomia unilateral or bilateral and asymmetric otomandibular dysplasia oculo-auriculo-vertebral spectrum Goldenhar disease Expanded spectrum of hemifacial microsomia first arch syndrome OAV (oculoauriculovertebral) dysplasia facioauriculovertebral dysplasia otomandibular syndrome oculoauriculovertebral dysplasia oculoauriculovertebral syndrome hemifacial microsomia HFM OAVS |
|
| has_related_synonym |
oculo-auriculo-vertebral dysplasia facioauriculovertebral sequence Fav sequence OAVD |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/4521 |
|
| id |
MONDO:0015397 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
craniofacial microsomia |
|
| notation |
MONDO:0015397 |
|
| preferred label |
craniofacial microsomia |
|
| prefLabel |
craniofacial microsomia |
|
| see also |
https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum |
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015218 http://purl.obolibrary.org/obo/MONDO_0015334 http://purl.obolibrary.org/obo/MONDO_0020215 http://purl.obolibrary.org/obo/MONDO_0020205 http://purl.obolibrary.org/obo/MONDO_0015161 http://purl.obolibrary.org/obo/MONDO_0043008 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021635 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0015397 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015397 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015397 | MONDO | LOOM | |
| http://purl.bioontology.org/ontology/RCD/X7894 | RCD | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/254026007 | SNOMEDCT | LOOM |