short-rib thoracic dysplasia 14 with polydactyly
asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23
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short-rib thoracic dysplasia 14 with polydactyly
Summary
short-rib thoracic dysplasia 14 with polydactyly is a rare disease[1].
Key Facts
- short-rib thoracic dysplasia 14 with polydactyly's instance of is recorded as rare disease[2].
- short-rib thoracic dysplasia 14 with polydactyly's instance of is recorded as class of disease[3].
- short-rib thoracic dysplasia 14 with polydactyly is a type of asphyxiating thoracic dysplasia[4].
- short-rib thoracic dysplasia 14 with polydactyly is a type of Joubert syndrome with Jeune asphyxiating thoracic dystrophy[5].
- short-rib thoracic dysplasia 14 with polydactyly is a type of autosomal recessive disease[6].
- short-rib thoracic dysplasia 14 with polydactyly's health specialty is recorded as medical genetics[7].
- short-rib thoracic dysplasia 14 with polydactyly's genetic association is recorded as KIAA0586[8].
- short-rib thoracic dysplasia 14 with polydactyly's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110096[9].
- short-rib thoracic dysplasia 14 with polydactyly's exact match is recorded as http://identifiers.org/doid/DOID:0110096[10].
- short-rib thoracic dysplasia 14 with polydactyly's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].