Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D013796 http://purl.bioontology.org/ontology/MESH/D013796
Preferred Name	Thanatophoric Dysplasia
Definitions	A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Synonyms	Thanatophoric Dysplasias Dysplasias, Thanatophoric Thanatophoric Dwarfism Dysplasia, Thanatophoric Dwarfism, Thanatophoric Thanatophoric Short Stature Thanatophoric Dwarfisms Dwarfisms, Thanatophoric
Type	http://www.w3.org/2002/07/owl#Class

definition	A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
altLabel	Thanatophoric Dysplasias Dysplasias, Thanatophoric Thanatophoric Dwarfism Dysplasia, Thanatophoric Dwarfism, Thanatophoric Thanatophoric Short Stature Thanatophoric Dwarfisms Dwarfisms, Thanatophoric See more See less
prefLabel	Thanatophoric Dysplasia
TH	OMIM (2013) UNK (19XX) NLM (1985) GHR (2014) ORD (2010)
notation	D013796
DX	19910101
Machine permutation	91; was see under OSTEOCHONDRODYSPLASIAS 1985-90
MN	C16.131.621.585.984 C05.116.099.343.110.500 C16.614.890 C16.320.240.500.500 C05.660.585.984 C05.116.099.708.017.500 See more See less
MMR	20130708
Mapped from	http://purl.bioontology.org/ontology/MESH/C536506 http://purl.bioontology.org/ontology/MESH/C536508 http://purl.bioontology.org/ontology/MESH/C537872 http://purl.bioontology.org/ontology/MESH/C566844 http://purl.bioontology.org/ontology/MESH/C536670 http://purl.bioontology.org/ontology/MESH/C537597 http://purl.bioontology.org/ontology/MESH/C563627 http://purl.bioontology.org/ontology/MESH/C537614 See more See less
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
HN	91(85); was see under OSTEOCHONDRODYSPLASIAS 1985-90
subClassOf	http://purl.bioontology.org/ontology/MESH/D017880 http://purl.bioontology.org/ontology/MESH/D000130 http://purl.bioontology.org/ontology/MESH/D007232
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	19840406
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C0039743
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T040498 T040497 T040496 T842582

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