Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023

Preferred Name	Septo-optic dysplasia
Synonyms	De Morsier syndrome
Definitions	Underdevelopment of the optic nerve and absence of the septum pellucidum.
ID	http://purl.obolibrary.org/obo/HP_0100842
creation_date	2011-06-09T06:44:12Z
creator	https://orcid.org/0009-0006-4530-3154
database_cross_reference	MSH:D025962 UMLS:C0338503 SNOMEDCT_US:7611002
definition	Underdevelopment of the optic nerve and absence of the septum pellucidum.
has_exact_synonym	De Morsier syndrome
has_obo_namespace	human_phenotype
id	HP:0100842
label	Septo-optic dysplasia
notation	HP:0100842
prefLabel	Septo-optic dysplasia
treeView	http://purl.obolibrary.org/obo/HP_0000609 http://purl.obolibrary.org/obo/HP_0001331
subClassOf	http://purl.obolibrary.org/obo/HP_0000609 http://purl.obolibrary.org/obo/HP_0001331

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/MTHU058725	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://www.orpha.net/ORDO/Orphanet_3157	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.4	International Classification of Diseases, Version 10 / 《国际疾病分类》第10版	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85063	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.bioontology.org/ontology/MESH/D025962	Medical Subject Headings / 医学主题词表	LOOM
http://purl.obolibrary.org/obo/DOID_0060857	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0008428	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0008428	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU068128	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.bioontology.org/ontology/OMIM/182230	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM