Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

familial clubfoot with or without associated lower limb anomalies
Synonyms
Definitions

Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
ID

http://purl.obolibrary.org/obo/MONDO_0016046
database_cross_reference

UMLS:C5680522

Orphanet:199315

MEDGEN:1843133

GARD:17093
definition

Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
IAO_0000233

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

https://github.com/monarch-initiative/mondo/issues/6876

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

MONDO:0016046
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

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

familial clubfoot with or without associated lower limb anomalies
notation

MONDO:0016046
preferred label

familial clubfoot with or without associated lower limb anomalies
prefLabel

familial clubfoot with or without associated lower limb anomalies
skos_exactMatch

http://identifiers.org/medgen/1843133

http://linkedlifedata.com/resource/umls/id/C5680522

http://purl.obolibrary.org/obo/Orphanet_199315
subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0019054
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