Oavs with radial defect

Moeschler Clarren syndrome

microsomia hemifacial radial defects

Goldenhar syndrome with ipsilateral radial defect

hemifacial microsomia with radial defects

oculoauriculovertebral spectrum with radial defect

hemifacial microsomia-radial defects syndrome

Moeschler-Clarren syndrome

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.

http://purl.obolibrary.org/obo/MONDO_0007712

OMIM:141400

Orphanet:2549

UMLS:C0220681

SCTID:726722009

MEDGEN:67392

GARD:3653

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.

http://identifiers.org/snomedct/726722009

http://www.orpha.net/ORDO/Orphanet_2549

http://linkedlifedata.com/resource/umls/id/C0220681

https://omim.org/entry/141400

http://identifiers.org/medgen/67392

hemifacial microsomia-radial defects syndrome

Moeschler-Clarren syndrome

Oavs with radial defect

Moeschler Clarren syndrome

microsomia hemifacial radial defects

Goldenhar syndrome with ipsilateral radial defect

hemifacial microsomia with radial defects

oculoauriculovertebral spectrum with radial defect

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6751

MONDO:0007712

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#ordo_malformation_syndrome

oculoauriculovertebral spectrum with radial defects

MONDO:0007712

oculoauriculovertebral spectrum with radial defects

oculoauriculovertebral spectrum with radial defects

http://www.ebi.ac.uk/efo/EFO_0000508

http://purl.obolibrary.org/obo/MONDO_0015161

http://purl.obolibrary.org/obo/MONDO_0018234