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loading...| Preferred Name |
short-rib thoracic dysplasia 7 with or without polydactyly |
| Synonyms |
SRPS5 |
| Definitions |
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110090 |
| database_cross_reference |
OMIM:614091 ICD10CM:Q77.2 |
| definition |
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. |
| has exact synonym |
SRPS5 short rib-polydactyly syndrome type V SRTD7 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110090 |
| label |
short-rib thoracic dysplasia 7 with or without polydactyly |
| notation |
DOID:0110090 |
| prefLabel |
short-rib thoracic dysplasia 7 with or without polydactyly |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_0050737 |