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OMIM ID
151210
OMIM term:
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
Alternative terms:
LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE
THANATOPHORIC DYSPLASIA, TORRANCE VARIANT PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED
THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED
(∗) Location:
12q13.11
(†) Associated OMIM genes:
COL2A1
(‡) Associated MGI genes:
Col2a1
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