loading...| Preferred Name | multiple synostoses syndrome | |
| Synonyms |
facio-audio-symphalangism WL syndrome symphalangism-brachydactyly syndrome deafness-Hermann type symphalangism syndrome |
|
| Definitions |
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017923 |
|
| database_cross_reference |
Orphanet:3237 MEDGEN:511579 OMIMPS:186500 DOID:0050794 icd11.foundation:248917534 UMLS:C0175700 GARD:3836 |
|
| definition |
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. |
|
| has_exact_synonym |
facio-audio-symphalangism WL syndrome symphalangism-brachydactyly syndrome deafness-Hermann type symphalangism syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0017923 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar 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 |
multiple synostoses syndrome |
|
| notation |
MONDO:0017923 |
|
| preferred label |
multiple synostoses syndrome |
|
| prefLabel |
multiple synostoses syndrome |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_3237 http://identifiers.org/medgen/511579 http://linkedlifedata.com/resource/umls/id/C0175700 https://omim.org/phenotypicSeries/PS186500 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/248917534 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000508 http://purl.obolibrary.org/obo/MONDO_0018234 |