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Metadata
ID DOID:2012
Name Nezelof syndrome
Definition A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
https://en.wikipedia.org/wiki/Nezelof_syndrome, https://meshb.nlm.nih.gov/record/ui?ui=C536288
Xrefs

ICD10CM:D81.4

ICD9CM:279.13

OMIM:242700

ORDO:83471

SNOMEDCT_US_2023_03_01:55602000

UMLS_CUI:C0152094

Subsets

DO_rare_slim

Synonyms

Nezelof's syndrome [EXACT]

T-cell immunodeficiency with thymic aplasia [EXACT]

thymic aplasia [EXACT]

thymic dysplasia with normal immunoglobulins [EXACT]

TIDTA [EXACT]

Parent Relationships

is_a T cell deficiency

is_a autosomal recessive disease

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