Preferred Name |
Familial caudal dysgenesis |
|
Synonyms |
Rudd-Klimek syndrome |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_3174 |
|
ageOfDeath |
Any age |
|
ageOfOnset |
Neonatal/infancy |
|
altLabel |
Rudd-Klimek syndrome |
|
id_Medline |
neant |
|
id_MIM |
600145 |
|
id_OMS |
Q87.8 |
|
id_Orpha |
1768 |
|
inheritance |
Autosomal dominant |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_3174 |
|
prefLabel |
Familial caudal dysgenesis |
|
prevalence |
<1 / 1 000 000 |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.orpha.net/ORDO/Orphanet_1768 | ORDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0010831 | EFO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0010831 | MONDO | LOOM | |
http://www.orpha.net/ORDO/Orphanet_1768 | ORDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0010831 | DOVES | LOOM | |
http://purl.bioontology.org/ontology/SNOMEDCT/722493007 | SNOMEDCT | LOOM |