short-rib thoracic dysplasia 13 with or without polydactyly
asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23
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short-rib thoracic dysplasia 13 with or without polydactyly
Summary
short-rib thoracic dysplasia 13 with or without polydactyly is a rare disease[1].
Key Facts
- short-rib thoracic dysplasia 13 with or without polydactyly's instance of is recorded as rare disease[2].
- short-rib thoracic dysplasia 13 with or without polydactyly's instance of is recorded as class of disease[3].
- short-rib thoracic dysplasia 13 with or without polydactyly's subclass of is recorded as asphyxiating thoracic dysplasia[4].
- short-rib thoracic dysplasia 13 with or without polydactyly's subclass of is recorded as autosomal recessive disease[5].
- short-rib thoracic dysplasia 13 with or without polydactyly's OMIM ID is recorded as 616300[6].
- short-rib thoracic dysplasia 13 with or without polydactyly's Disease Ontology ID is recorded as DOID:0110093[7].
- short-rib thoracic dysplasia 13 with or without polydactyly's health specialty is recorded as medical genetics[8].
- short-rib thoracic dysplasia 13 with or without polydactyly's genetic association is recorded as CEP120[9].
- short-rib thoracic dysplasia 13 with or without polydactyly's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110093[10].
- short-rib thoracic dysplasia 13 with or without polydactyly's exact match is recorded as http://identifiers.org/doid/DOID:0110093[11].
- short-rib thoracic dysplasia 13 with or without polydactyly's UMLS CUI is recorded as C4225378[12].
- short-rib thoracic dysplasia 13 with or without polydactyly's ICD-10-CM is recorded as Q77.2[13].
- short-rib thoracic dysplasia 13 with or without polydactyly's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- short-rib thoracic dysplasia 13 with or without polydactyly's Mondo ID is recorded as MONDO_0014577[15].
- short-rib thoracic dysplasia 13 with or without polydactyly's UniProt disease ID is recorded as DI-04389[16].