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Mondo Disease Ontology
| Preferred Name | thanatophoric dysplasia type 2 | |
| Synonyms |
thanatophoric dysplasia with Kleeblattschaedel thanatophoric dysplasia type II thanatophoric dwarfism - cloverleaf skull thanatophoric dysplasia with straight femurs and cloverleaf skull thanatophoric dysplasia, type II cloverleaf skull with thanatophoric dwarfism cloverleaf skull-micromelic bone dysplasia syndrome TD2 thanatophoric dwarfism-cloverleaf skull syndrome type 2 thanatophoric dysplasia thanatophoric dwarfism type 2 thanatophoric dysplasia, type 2 |
|
| Definitions |
Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008547 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008547 |
|
| database_cross_reference |
MEDGEN:226975 NANDO:1200876 MESH:C536508 ICD9:742.59 NCIT:C98584 GARD:1402 Orphanet:93274 OMIM:187601 SCTID:389158007 UMLS:C1300257
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|
| definition |
Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
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|
| has_exact_synonym |
cloverleaf skull-micromelic bone dysplasia syndrome TD2 thanatophoric dwarfism-cloverleaf skull syndrome type 2 thanatophoric dysplasia thanatophoric dwarfism type 2 thanatophoric dysplasia, type 2
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|
| has_related_synonym |
thanatophoric dysplasia with Kleeblattschaedel thanatophoric dysplasia type II thanatophoric dwarfism - cloverleaf skull thanatophoric dysplasia with straight femurs and cloverleaf skull thanatophoric dysplasia, type II cloverleaf skull with thanatophoric dwarfism
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|
| IAO_0000233 | ||
| id |
MONDO:0008547
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
|
| label |
thanatophoric dysplasia type 2
|
|
| notation |
MONDO:0008547
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|
| prefLabel |
thanatophoric dysplasia type 2
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|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C98584 http://linkedlifedata.com/resource/umls/id/C1300257 http://identifiers.org/mesh/C536508 http://purl.obolibrary.org/obo/Orphanet_93274 |
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