JSON

asphyxiating thoracic dystrophy 1

^ http://purl.obolibrary.org/obo/MONDO_0008831

An asphyxiating thoracic dystrophy associated with variation in the region 15q13. [ PMID:20503315 DOID:0110085 ]

Term info

database cross reference
  • OMIM:208500 (MONDO:equivalentTo)
  • DOID:0110085 (MONDO:equivalentTo)
  • UMLS:CN119532 (MONDO:ncbi_mim2gene_medline)
abbreviation
ATD1 [ DOID:0110085 ]

abbreviation
SRTD1 [ DOID:0110085 MONDO:Lexical OMIM:208500 ]

definition

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.

exactMatch

https://omim.org/entry/208500, http://purl.obolibrary.org/obo/DOID_0110085, http://linkedlifedata.com/resource/umls/id/CN119532

has exact synonym

asphyxiating thoracic dystrophy 1, short-rib thoracic dysplasia 1 with or without polydactyly, SRTD1, asphyxiating thoracic dystrophy type 1, ATD1

has related synonym

thoracic-pelvic-phalangeal dystrophy, Jeune syndrome

id

MONDO:0008831

Term relations

Subclass of: