Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

osteopetrosis

Synonyms

Albers-Schonberg disease

Definitions

Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.

ID

http://purl.obolibrary.org/obo/DOID_13533

comment

Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

database_cross_reference

SNOMEDCT_US_2022_09_01:205500005

OMIM:PS259700

GARD:4155

ICD9CM:756.52

ICD10CM:Q78.2

UMLS_CUI:C0029454

NCI:C26840

MESH:D010022

OMIM:PS607634

ORDO:667

definition

An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.

has exact synonym

Albers-Schonberg disease

marble bone

has_obo_namespace

disease_ontology

id

DOID:13533

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

osteopetrosis

notation

DOID:13533

prefLabel

osteopetrosis

subClassOf

http://purl.obolibrary.org/obo/DOID_4254

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http://purl.bmicc.cn/ontology/ICD11CN/LD24.10 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU056843 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26840 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.obolibrary.org/obo/DOID_13533 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_13533 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017198 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D010022 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/HP_0011002 Human Phenotype Ontology / 人类表型本体 LOOM