loading...| Preferred Name |
Wolf-Hirschhorn syndrome |
|
| Synonyms |
chromosome 4p16.3 deletion syndrome |
|
| Definitions |
OMIM mapping confirmed by DO. [LS]. A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050460 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. |
|
| database_cross_reference |
UMLS_CUI:C1956097 UMLS_CUI:C0796117 OMIM:194190 SNOMEDCT_US_2020_03_01:17122004 MESH:D054877 ICD10CM:Q93.3 GARD:7896 NCI:C35528 ORDO:280 |
|
| has exact synonym |
chromosome 4p16.3 deletion syndrome 4p deletion syndrome Pitt-Rogers-Danks Syndrome PITT SYNDROME |
|
| has_alternative_id |
DOID:6684 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050460 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Wolf-Hirschhorn syndrome |
|
| notation |
DOID:0050460 |
|
| prefLabel |
Wolf-Hirschhorn syndrome |
|
| textual definition |
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4. |
|
| subClassOf |
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