asphyxiating thoracic dystrophy 5
asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the WDR19 gene on chromosome 4p14
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asphyxiating thoracic dystrophy 5
Summary
asphyxiating thoracic dystrophy 5 is a rare disease[1].
Key Facts
- asphyxiating thoracic dystrophy 5's instance of is recorded as rare disease[2].
- asphyxiating thoracic dystrophy 5's instance of is recorded as class of disease[3].
- asphyxiating thoracic dystrophy 5's subclass of is recorded as asphyxiating thoracic dysplasia[4].
- asphyxiating thoracic dystrophy 5's subclass of is recorded as autosomal recessive disease[5].
- asphyxiating thoracic dystrophy 5's OMIM ID is recorded as 614376[6].
- asphyxiating thoracic dystrophy 5's Disease Ontology ID is recorded as DOID:0110089[7].
- asphyxiating thoracic dystrophy 5's health specialty is recorded as medical genetics[8].
- asphyxiating thoracic dystrophy 5's genetic association is recorded as WDR19[9].
- asphyxiating thoracic dystrophy 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110089[10].
- asphyxiating thoracic dystrophy 5's exact match is recorded as http://identifiers.org/doid/DOID:0110089[11].
- asphyxiating thoracic dystrophy 5's UMLS CUI is recorded as C3280598[12].
- asphyxiating thoracic dystrophy 5's ICD-10-CM is recorded as Q77.2[13].
- asphyxiating thoracic dystrophy 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- asphyxiating thoracic dystrophy 5's Mondo ID is recorded as MONDO_0013717[15].
- asphyxiating thoracic dystrophy 5's UniProt disease ID is recorded as DI-03325[16].