loading...| Preferred Name | thanatophoric dysplasia | |
| Synonyms |
dwarfism thanatophoric thanatophoric dwarfism Td |
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| Definitions |
Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017042 |
|
| database_cross_reference |
Orphanet:2655 MEDGEN:21124 SCTID:29352008 NANDO:1200874 NCIT:C85187 DOID:13481 icd11.foundation:1668919215 GARD:85 MESH:D013796 ICD9:259.4 UMLS:C0039743 MedDRA:10049808 |
|
| definition |
Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. |
|
| has_exact_synonym |
thanatophoric dwarfism Td |
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| has_related_synonym |
dwarfism thanatophoric |
|
| id |
MONDO:0017042 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
thanatophoric dysplasia |
|
| notation |
MONDO:0017042 |
|
| prefLabel |
thanatophoric dysplasia |
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| skos_closeMatch | ||
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0039743 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1668919215 http://identifiers.org/mesh/D013796 http://purl.obolibrary.org/obo/DOID_13481 http://purl.obolibrary.org/obo/Orphanet_2655 http://identifiers.org/snomedct/29352008 |
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| excluded subClassOf | ||
| subClassOf |