Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Osteopetrosis

Synonyms

Albers-Schönberg disease

Albers-Schoenberg disease

Marble bone disease

Harder, denser, fracture-prone bones

Albers-Schonberg disease

Definitions

Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.

ID

http://purl.obolibrary.org/obo/HP_0011002

creation_date

2011-02-13T11:58:36Z

creator

https://orcid.org/0009-0006-4530-3154

database_cross_reference

UMLS:C0029454

SNOMEDCT_US:1926006

SNOMEDCT_US:367489004

MSH:D010022

definition

Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.

has_exact_synonym

Harder, denser, fracture-prone bones

has_obo_namespace

human_phenotype

has_related_synonym

Albers-Schönberg disease

Albers-Schoenberg disease

Marble bone disease

Albers-Schonberg disease

id

HP:0011002

label

Osteopetrosis

notation

HP:0011002

prefLabel

Osteopetrosis

treeView

http://purl.obolibrary.org/obo/HP_0011001

subClassOf

http://purl.obolibrary.org/obo/HP_0011001

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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 Human Disease Ontology / 人类疾病本体 LOOM
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