loading...| Preferred Name |
Stargardt Disease |
|
| Synonyms |
Juvenile Macular Degenerations |
|
| Definitions |
A juvenile-onset macular dystrophy characterized by progressive loss of VISUAL ACUITY with normal acuity in peripheral VISUAL FIELDS. Other associated clinical features may include LIPOFUSCIN fundus autofluorescence, atrophy of the RETINAL PIGMENT EPITHELIUM, loss of color vision, PHOTOPHOBIA and PARACENTRAL SCOTOMA. Germline mutations in the ABCA4 gene have been identified in recessive and dominant diseases. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000080362 |
|
| altLabel |
Juvenile Macular Degenerations Juvenile Macular Degeneration Stargardt Macular Degenerations Fundus Flavimaculatus Macular Degeneration, Stargardt Macular Degeneration, Juvenile Stargardt Disease 1 Stargardt Macular Degeneration Degeneration, Juvenile Macular Degeneration, Stargardt Macular Macular Dystrophy With Flecks, Type 1 |
|
| 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 |
C0271093 C1855465 C4282180 |
|
| DC |
1 |
|
| definition |
A juvenile-onset macular dystrophy characterized by progressive loss of VISUAL ACUITY with normal acuity in peripheral VISUAL FIELDS. Other associated clinical features may include LIPOFUSCIN fundus autofluorescence, atrophy of the RETINAL PIGMENT EPITHELIUM, loss of color vision, PHOTOPHOBIA and PARACENTRAL SCOTOMA. Germline mutations in the ABCA4 gene have been identified in recessive and dominant diseases. |
|
| DX |
20200101 |
|
| HN |
2020(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 |
|
| Machine permutation |
2020; STARGARDT DISEASE was indexed under MACULAR DEGENERATION 2010-2019 |
|
| MDA |
20190708 |
|
| MMR |
20190429 |
|
| MN |
C16.320.290.724 C11.768.585.439.339 C11.270.872 |
|
| notation |
D000080362 |
|
| prefLabel |
Stargardt Disease |
|
| TERMUI |
T806765 T842534 T806763 T801321 T000951740 T842533 T000951737 |
|
| TH |
OMIM (2013) NLM (2020) GHR (2014) |
|
| tui |
T047 |
|
| subClassOf |