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Metadata
ID DOID:0050460
Name Wolf-Hirschhorn syndrome
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.
https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome
Xrefs

GARD:7896

ICD10CM:Q93.3

MESH:D054877

NCI:C35528

OMIM:194190

ORDO:280

SNOMEDCT_US_2020_09_01:17122004

UMLS_CUI:C0796117

UMLS_CUI:C1956097

Alternateids

DOID:6684

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

4p deletion syndrome [EXACT]

chromosome 4p16.3 deletion syndrome [EXACT]

PITT SYNDROME [EXACT]

Pitt-Rogers-Danks Syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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