Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

BEHR SYNDROME

Synonyms

OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

ID

http://purl.bioontology.org/ontology/OMIM/210000

altLabel

OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

BEHRS

cui

C0221061

Gene Locus

3q28-q29

Gene Symbol

BERHS

NTG

OPA1

NPG

MTDPS14

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU014230

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU058311

http://purl.bioontology.org/ontology/OMIM/MTHU053609

http://purl.bioontology.org/ontology/OMIM/MTHU053607

http://purl.bioontology.org/ontology/OMIM/MTHU053605

http://purl.bioontology.org/ontology/OMIM/MTHU053603

http://purl.bioontology.org/ontology/OMIM/MTHU000870

http://purl.bioontology.org/ontology/OMIM/MTHU048098

http://purl.bioontology.org/ontology/OMIM/MTHU007093

http://purl.bioontology.org/ontology/OMIM/MTHU034427

http://purl.bioontology.org/ontology/OMIM/MTHU014231

http://purl.bioontology.org/ontology/OMIM/MTHU000282

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU053606

http://purl.bioontology.org/ontology/OMIM/MTHU053604

http://purl.bioontology.org/ontology/OMIM/MTHU053608

http://purl.bioontology.org/ontology/OMIM/MTHU020645

http://purl.bioontology.org/ontology/OMIM/MTHU000440

http://purl.bioontology.org/ontology/OMIM/MTHU014232

http://purl.bioontology.org/ontology/OMIM/MTHU043146

http://purl.bioontology.org/ontology/OMIM/MTHU000136

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

210000

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

BEHR SYNDROME

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537669 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537669 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0111580 Human Disease Ontology 123 LOOM