Terminology Service for NFDI4Health
JSON

Hajdu-Cheney syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_2736

A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Hajdu-Cheney syndrome

Synonyms
  • Cheney syndrome
  • HJCYS
  • SFPKS
  • acroosteolysis with osteoporosis and changes in skull and mandible
  • arthrodentoosteodysplasia
  • serpentine fibula-polycystic kidney syndrome
database cross reference
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has alternative id

DOID:2735

has obo namespace

disease_ontology

id

DOID:2736