Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Cyclopia
Synonyms

Demyer Sequence
ID

http://purl.bioontology.org/ontology/MESH/C562573
altLabel

Demyer Sequence

Holoprosencephaly 1
cui

C0266667
HM

D016142
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D016142
MDA

20121105
MeSH Frequency

80
MMR

20150818
notation

C562573
prefLabel

Cyclopia
SC

3
Scope Statement

A hereditary autosomal recessive form of holoprosencephaly which maps to chromosome 21. OMIM: 236100
TERMUI

T810759

T806911

T800962
TH

OMIM (2013)
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/236100 Online Mendelian Inheritance in Man CUI
http://purl.obolibrary.org/obo/HP_0009914 Human Phenotype Ontology China LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/MTHU026547 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/MTHU026547 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124522 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014657 Online Mendelian Inheritance in Man CUI