WHIM syndrome 1

WHIM syndrome 1

http://purl.obolibrary.org/obo/DOID_0060591

An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. [ url:https://www.ncbi.nlm.nih.gov/pubmed/10767001 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007645 url:https://en.wikipedia.org/wiki/WHIM_syndrome ]

Synonyms: warts-hypogammaglobulinemia-infections-myelokathexis syndrome WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis

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This is just here as a test because I lose it

Term information

database cross reference

NCI:C176819
SNOMEDCT_US_2023_03_01:234571003
GARD:9297
MIM:193670
MESH:C536697
UMLS_CUI:C0472817

Subsets

DO_rare_slim, NCIthesaurus

acronym

WHIMS

has obo namespace

disease_ontology

DOID:0060591

Term relations

Subclass of:

autosomal dominant disease
primary immunodeficiency disease
has material basis in some autosomal dominant inheritance