Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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Preferred Name

Leber Congenital Amaurosis
Synonyms

Amaurosis, Leber Congenital
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

Amaurosis, Leber Congenital

Amaurosis, Leber's

Congenital Amaurosis, Leber

Congenital Retinal Blindness

Congenital Retinal Blindnesses

Leber Abiotrophies

Retinal Blindnesses, Congenital

Hereditary Epithelial Dysplasia of Retina

Blindnesses, Congenital Retinal

Abiotrophies, Leber

Dysgenesis Neuroepithelialis Retinae

Blindness, Congenital Retinal

Lebers Amaurosis

Hereditary Retinal Aplasia

Abiotrophy, Leber

Amauroses, Leber Congenital

Amauroses, Leber's

Leber's Amauroses

Leber's Amaurosis

Leber Congenital Amauroses

Leber Amaurosis

Congenital Amauroses, Leber

Leber Congenital Tapetoretinal Degeneration

Congenital Amaurosis of Retinal Origin

Leber Abiotrophy

Heredoretinopathia Congenitalis
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

C3540662

C0339527
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/Q000401

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2010
Mapped from

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

20090706
MMR

20130708
MN

C11.270.516

C11.768.364
notation

D057130
prefLabel

Leber Congenital Amaurosis
TERMUI

T841889

T841883

T841881

T841885

T841890

T841887

T750835

T841886

T841884

T841882

T841888
TH

NLM (2010)

NLM (2014)

GHR (2014)
tui

T047
subClassOf

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

http://purl.bioontology.org/ontology/MESH/D012164
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