loading...| Preferred Name | thanatophoric dysplasia type 2 | |
| Synonyms |
thanatophoric dysplasia, type II thanatophoric dysplasia type II thanatophoric dysplasia with straight femurs and cloverleaf skull cloverleaf skull with thanatophoric dwarfism thanatophoric dwarfism - cloverleaf skull thanatophoric dysplasia with Kleeblattschaedel thanatophoric dwarfism-cloverleaf skull syndrome type 2 thanatophoric dysplasia thanatophoric dysplasia, type 2 cloverleaf skull-micromelic bone dysplasia syndrome thanatophoric dwarfism type 2 TD2 |
|
| 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 |
Orphanet:93274 SCTID:389158007 ICD9:742.59 NANDO:1200876 MESH:C536508 OMIM:187601 NCIT:C98584 UMLS:C1300257 MEDGEN:226975 GARD:1402 |
|
| definition |
Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. |
|
| has_exact_synonym |
thanatophoric dwarfism-cloverleaf skull syndrome type 2 thanatophoric dysplasia thanatophoric dysplasia, type 2 cloverleaf skull-micromelic bone dysplasia syndrome thanatophoric dwarfism type 2 TD2 |
|
| has_related_synonym |
thanatophoric dysplasia, type II thanatophoric dysplasia type II thanatophoric dysplasia with straight femurs and cloverleaf skull cloverleaf skull with thanatophoric dwarfism thanatophoric dwarfism - cloverleaf skull thanatophoric dysplasia with Kleeblattschaedel |
|
| IAO_0000233 | ||
| id |
MONDO:0008547 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
thanatophoric dysplasia type 2 |
|
| notation |
MONDO:0008547 |
|
| preferred label |
thanatophoric dysplasia type 2 |
|
| prefLabel |
thanatophoric dysplasia type 2 |
|
| see also |
https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 |
|
| 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 |
|
| subClassOf |