HIRSCHSPRUNG

Pronunciation (US):

(GB):

• HIRSCHSPRUNG (noun)
  The noun HIRSCHSPRUNG has 1 sense:

1. Danish pediatrician (1830-1916)

  Familiarity information: HIRSCHSPRUNG used as a noun is very rare.

• HIRSCHSPRUNG (noun)

Sense 1

Meaning:

Danish pediatrician (1830-1916)

Classified under:

Nouns denoting people

Synonyms:

Harold Hirschsprung; Hirschsprung

Instance hypernyms:

baby doctor; paediatrician; pediatrician; pediatrist (a specialist in the care of babies)

 Context examples 

A neurturin mutation has been described in a family with Hirschsprung Disease.

(Neurturin, NCI Thesaurus/LocusLink)

Oncogenic RET mutations are associated with Hirschsprung's disease, Multiple Endocrine Neoplasia, pheochromocytoma, hyperparathyroidism and medullary thyroid cancer.

(Oncogene RET, NCI Thesaurus)

GDNF is a ligand for the RET gene product and may contribute to Hirschsprung disease when mutated and combined with a mutant RET.

(Glial Cell Line Derived Neurotrophic Factor, NCI Thesaurus/LocusLink)

Hirschsprung disease is present from birth, but the symptoms may not appear until later in a child’s life.

(Hirschsprung disease, NCI Dictionary)

Mutations in this gene are associated with ABCD syndrome, Waardenburg syndrome, type 4A, and susceptibility to Hirschsprung disease 2.

(EDNRB wt Allele, NCI Thesaurus)

Mutantions in the gene produce variant alleles that are associated with Hirschsprung disease.

(GDNF wt Allele, NCI Thesaurus)

The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage).

(Mowat-Wilson Syndrome, NCI Thesaurus)

Also called Hirschsprung disease.

(Aganglionic megacolon, NCI Dictionary)

Mutation of the gene is associated with hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS), mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA or CRASH syndrome), spastic paraplegia 1, X-linked and agenesis of the corpus callosum, X-linked, partial and may contribute to intestinal aganglionosis in Hirschsprung disease.

(L1CAM wt Allele, NCI Thesaurus)