Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

ANENCEPHALY
Synonyms

ANPH
ID

http://purl.bioontology.org/ontology/OMIM/206500
altLabel

ANPH
cui

C0002902
Gene Locus

5q22.3
Gene Symbol

ANPH

TRIM36

RBCC728
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011716

http://purl.bioontology.org/ontology/OMIM/MTHU058305

http://purl.bioontology.org/ontology/OMIM/MTHU058303

http://purl.bioontology.org/ontology/OMIM/MTHU058307

http://purl.bioontology.org/ontology/OMIM/MTHU058304

http://purl.bioontology.org/ontology/OMIM/MTHU058306

http://purl.bioontology.org/ontology/OMIM/MTHU001793
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

206500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ANENCEPHALY
tui

T019
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002902 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002902 MedlinePlus Health Topics LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q00.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q00.0 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/LNC/LA20078-4 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA20078-4 Logical Observation Identifier Names and Codes LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84560 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10/Q00.0 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10/Q00.0 International Classification of Diseases, Version 10 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA00.0 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q00.0 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D000757 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D000757 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0060668 Human Disease Ontology 123 LOOM