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Metadata
ID DOID:9521
Name Laron syndrome
Definition A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
https://ghr.nlm.nih.gov/condition/laron-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/8488849
Xrefs

GARD:6859

ICD10CM:E34.321

MESH:D046150

NCI:C130994

OMIM:262500

ORDO:633

SNOMEDCT_US_2023_03_01:38196001

UMLS_CUI:C0271568

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Laron-type isolated somatotropin defect [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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