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short-rib thoracic dysplasia 6 with or without polydactyly

Go to external page http://purl.obolibrary.org/obo/MONDO_0009894

A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. [ NCIT:C122654 ]

Synonyms: polydactyly with neonatal chondrodystrophy, type II polydactyly with neonatal chondrodystrophy type II short-rib thoracic dysplasia 6 with or without polydactyly short rib-polydactyly syndrome type II SRPS2A short rib-polydactyly syndrome type IIA Majewski syndrome SRTD6

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C122654 (MONDO:equivalentTo)
  • GARD:15224 (MONDO:GARD)
  • MEDGEN:44252 (MONDO:equivalentTo)
  • DOID:0110092 (MONDO:equivalentTo)
  • OMIM:263520 (MONDO:equivalentTo)
  • UMLS:C0024507 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, nord_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://purl.obolibrary.org/obo/DOID_0110092

http://linkedlifedata.com/resource/umls/id/C0024507

http://identifiers.org/medgen/44252

https://omim.org/entry/263520

http://purl.obolibrary.org/obo/NCIT_C122654

has related synonym

short rib-polydactyly syndrome, type 2A

Srps, type 2

polydactyly with neonatal chondrodystrophy, type 2

short rib-polydactyly syndrome, type 2

id

MONDO:0009894