Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Leber Congenital Amaurosis
Synonyms

Amauroses, Leber's
Definitions

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
ID

http://purl.bioontology.org/ontology/MESH/D057130
altLabel

Amauroses, Leber's

Congenital Amauroses, Leber

Congenital Amaurosis of Retinal Origin

Hereditary Epithelial Dysplasia of Retina

Leber Amaurosis

Amaurosis, Leber's

Abiotrophies, Leber

Leber Abiotrophy

Amauroses, Leber Congenital

Blindnesses, Congenital Retinal

Leber's Amauroses

Abiotrophy, Leber

Amaurosis, Leber Congenital

Retinal Blindnesses, Congenital

Congenital Retinal Blindness

Leber Abiotrophies

Hereditary Retinal Aplasia

Congenital Amaurosis, Leber

Leber Congenital Amauroses

Dysgenesis Neuroepithelialis Retinae

Heredoretinopathia Congenitalis

Congenital Retinal Blindnesses

Leber's Amaurosis

Blindness, Congenital Retinal

Leber Congenital Tapetoretinal Degeneration

Lebers Amaurosis
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0339527

C3540662
DC

1
definition

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
DX

20100101
HN

2010
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation

2010
Mapped from

http://purl.bioontology.org/ontology/MESH/C536999

http://purl.bioontology.org/ontology/MESH/C536998

http://purl.bioontology.org/ontology/MESH/C565720

http://purl.bioontology.org/ontology/MESH/C564140

http://purl.bioontology.org/ontology/MESH/C567197

http://purl.bioontology.org/ontology/MESH/C565327

http://purl.bioontology.org/ontology/MESH/C565814

http://purl.bioontology.org/ontology/MESH/C563763

http://purl.bioontology.org/ontology/MESH/C536603

http://purl.bioontology.org/ontology/MESH/C536604

http://purl.bioontology.org/ontology/MESH/C536602

http://purl.bioontology.org/ontology/MESH/C536600

http://purl.bioontology.org/ontology/MESH/C536601

http://purl.bioontology.org/ontology/MESH/C564637

http://purl.bioontology.org/ontology/MESH/C567636

http://purl.bioontology.org/ontology/MESH/C537580

http://purl.bioontology.org/ontology/MESH/C565708

http://purl.bioontology.org/ontology/MESH/C565697

http://purl.bioontology.org/ontology/MESH/C565778
MDA

20090706
MMR

20130708
MN

C11.270.516

C11.768.364
notation

D057130
prefLabel

Leber Congenital Amaurosis
TERMUI

T841882

T841883

T841886

T841887

T841889

T841881

T841885

T750835

T841888

T841884

T841890
TH

NLM (2010)

GHR (2014)

NLM (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D012164
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU020281 OMIM CUI
http://purl.bioontology.org/ontology/RCD/F427J RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10070667 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D057130 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/1114-9698 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181128 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10070667 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10070667 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/193413001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/193413001 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0018998 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14791 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.516 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14791 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14791 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14791 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14791 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14791 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14791 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14791 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU020281 OMIM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037133 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129075 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 DOVES LOOM
http://purl.jp/bio/4/id/200906035255009260 IOBC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3243 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_65 ORDO LOOM
http://www.gamuts.net/entity#Leber_congenital_amaurosis GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.768.364 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14791 NATPRO LOOM
http://purl.obolibrary.org/obo/OMIT_0026867 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C129075 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D057130 RH-MESH LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_2 HAMIDEHSGH LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 MONDO LOOM