loading...| Preferred Name | Weill-Marchesani syndrome 1 | |
| Synonyms |
spherophakia-brachymorphia syndrome Weill-Marchesani syndrome, autosomal recessive mesodermal Dysmorphodystrophy, congenital WMS1 Weill-Marchesani syndrome 1, recessive Weill-Marchesani syndrome 1 Weill-Marchesani syndrome type 1 Weill-Marchesani syndrome caused by mutation in ADAMTS10 ADAMTS10 Weill-Marchesani syndrome |
|
| Definitions |
Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010194 |
|
| altLabel |
spherophakia-brachymorphia syndrome Weill-Marchesani syndrome, autosomal recessive mesodermal Dysmorphodystrophy, congenital WMS1 Weill-Marchesani syndrome 1, recessive Weill-Marchesani syndrome 1 Weill-Marchesani syndrome type 1 Weill-Marchesani syndrome caused by mutation in ADAMTS10 ADAMTS10 Weill-Marchesani syndrome |
|
| definition |
Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. |
|
| has_exact_synonym |
Weill-Marchesani syndrome 1, recessive Weill-Marchesani syndrome 1 Weill-Marchesani syndrome type 1 Weill-Marchesani syndrome caused by mutation in ADAMTS10 ADAMTS10 Weill-Marchesani syndrome |
|
| has_related_synonym |
spherophakia-brachymorphia syndrome Weill-Marchesani syndrome, autosomal recessive mesodermal Dysmorphodystrophy, congenital WMS1 |
|
| IAO_0000233 | ||
| label |
Weill-Marchesani syndrome 1 |
|
| prefixIRI |
MONDO:0010194 |
|
| prefLabel |
Weill-Marchesani syndrome 1 |
|
| textual definition |
Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0010194 | MONDO | SAME_URI | |
| http://identifiers.org/omim/277600 | REXO | LOOM | |
| http://identifiers.org/omim/277600 | GEXO | LOOM | |
| http://identifiers.org/omim/277600 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010194 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_277600 | CCO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/277600 | OMIM | LOOM |