loading...| Preferred Name |
Beemer-Langer syndrome |
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| Synonyms |
Beemer-Langer syndrome short rib-polydactyly syndrome type 4 type IV short rib polydactyly syndrome Beemer Langer syndrome short rib-polydactyly syndrome, Beemer-Langer type short rib polydactyly syndrome Beemer-Langer type short rib-polydactyly syndrome, type 4 SRTD12 short-rib thoracic dysplasia 12 SRPS type 4 short rib-polydactyly syndrome type IV Srps 4 short rib syndrome, Beemer type short rib-polydactyly syndrome Beemer type |
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| Definitions |
Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010024 |
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| database_cross_reference |
OMIM:269860 ICD9:756.9 UMLS:C0432198 Orphanet:93268 GARD:0004832 DOID:9249 SCTID:254052001 ICD10:Q77.2 MESH:C537599 |
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| disease has feature | ||
| exactMatch |
http://identifiers.org/snomedct/254052001 http://identifiers.org/omim/269860 http://www.orpha.net/ORDO/Orphanet_93268 http://linkedlifedata.com/resource/umls/id/C0432198 |
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| has exact synonym |
Beemer-Langer syndrome short rib-polydactyly syndrome type 4 type IV short rib polydactyly syndrome |
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| has related synonym |
Beemer Langer syndrome short rib-polydactyly syndrome, Beemer-Langer type short rib polydactyly syndrome Beemer-Langer type short rib-polydactyly syndrome, type 4 SRTD12 short-rib thoracic dysplasia 12 SRPS type 4 short rib-polydactyly syndrome type IV Srps 4 short rib syndrome, Beemer type short rib-polydactyly syndrome Beemer type |
|
| id |
MONDO:0010024 |
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
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| label |
Beemer-Langer syndrome |
|
| notation |
MONDO:0010024 |
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| prefLabel |
Beemer-Langer syndrome |
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| textual definition |
Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. |
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| subClassOf |