Human Phenotype Ontology 
..Starting node
..expandHoffmann sign (HP:0031993)help
Term ID: 31993
Name: Hoffmann sign
Synonym: Hoffmann's sign
Definition: A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
Comments:
Reference: HP:0031993
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031993HP:0031993Hoffmann sign0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0031993HP:0031993Hoffmann sign0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0031993HP:0031993Hoffmann sign0BCAT2 CL E G H587977OMIM:618850HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0031993HP:0031993Hoffmann sign0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0031993HP:0031993Hoffmann sign0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040282 - Frequent160
HP:0031993HP:0031993Hoffmann sign0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0031993HP:0031993Hoffmann sign0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21


Genes (7) :ABCD1 ALDH18A1 BCAT2 CHP1 GALC PI4KA UCHL1

Diseases (7) :ORPHA:139396 OMIM:601162 OMIM:618850 OMIM:618438 ORPHA:206448 OMIM:619621 OMIM:615491
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.