asphyxiating thoracic dystrophy 4

asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24
rdfs:label "asphyxiating thoracic dystrophy 4"@en
skos:altLabel "ATD4"@en
"Asphyxiating Thoracic Dystrophy 4"@en
"SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4"@en
"SRTD4"@en
"asphyxiating thoracic dystrophy type 4"@en
"short-rib thoracic dysplasia 4 with or without polydactyly"@en
schema:description
"asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24"@en
schema:dateModified "2026-07-04T23:53:42+00:00"^^xsd:dateTime
schema:version 2513964288
wikibase:identifiers 6
wikibase:sitelinks 0
wikibase:statements 14
p:P11430 wd:statement/Q27677622-c8dcde87-4e88-fdfd-528a-29fb14205903
p:P1995 wd:statement/Q27677622-7B4D532E-034D-4489-8D7F-6602C181144D
p:P2293 wd:statement/Q27677622-41EECF93-DF1B-47EA-8D4D-53E5A82DF2C7
p:P279 wd:statement/Q27677622-E815BFD1-1EF7-4DB6-8059-1C8078CEE460
p:P2888 wd:statement/Q27677622-19D4F7B5-ED90-46C2-A75C-AB32E2D278DA
wd:statement/Q27677622-5F9DAD0F-F03B-42CE-82CD-30DAB58141A2
p:P2892 wd:statement/Q27677622-5008410A-8A43-4207-8CC1-4B06D82AB501
p:P31 wd:statement/Q27677622-303E703D-7BE6-40C5-B675-6668972E49C1
wd:statement/Q27677622-DCBCB06A-2553-4CBD-8BCA-30BE6E621DDD
p:P4229 wd:statement/Q27677622-626676B8-97DE-4B0E-9410-72F710CD9B54
p:P492 wd:statement/Q27677622-2AC1DBBB-5F00-4CE6-A277-44716AD0A29F
p:P5008 wd:statement/Q27677622-EE48F783-3B96-4995-8BA4-A15E17FBD442
p:P5270 wd:statement/Q27677622-8817CEE8-F0E1-4457-B644-8E08C3F51EDC
p:P699 wd:statement/Q27677622-05047EB4-2715-4F3E-AF2A-62D73435F76B
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0013441>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0110088>
wdt:P11430 "DI-03067"
wdt:P1995 medical genetics
wdt:P2293 TTC21B
wdt:P279 asphyxiating thoracic dysplasia
wdt:P2888 <http://identifiers.org/doid/DOID:0110088>
<http://purl.obolibrary.org/obo/DOID_0110088>
wdt:P2892 "C3151185"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q77.2"
wdt:P492 "613819"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0013441"
wdt:P699 "DOID:0110088"
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