An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. [ url:http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 url:http://en.wikipedia.org/wiki/Osteogenesis_imperfecta url:http://orthoinfo.aaos.org/topic.cfm?topic=a00051 url:http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta url:http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ http://purl.obolibrary.org/obo/ECO_0007640 url:http://osteogenesisimperfecta.org/ ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:1017
  • ORDO:666
  • MESH:D010013
  • NCI:C26837
  • ICD9CM:756.51
  • ICD10CM:Q78.0
  • OMIM:PS166200
  • UMLS_CUI:C0029434
  • SNOMEDCT_US_2021_03_01:254109004
Subsets

DO_rare_slim, NCIthesaurus

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

definition

An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.

has alternative id

DOID:14708

has exact synonym

Lobstein's syndrome

Osteopsathyrosis

brittle bone disease

Vrolik's disease

has obo namespace

disease_ontology

has related synonym

Fragilitas ossium

id

DOID:12347

Term relations

Subclass of: