Abderhalden–Kaufmann–Lignac syndrome
(Q4664900)
rare autosomal-recessive, lysomal storage childhood disorder involving deposits of cystine crystals in various parts of the body, including the bone marrow, conjunctiva and cornea
rare autosomal-recessive, lysomal storage childhood disorder involving deposits of cystine crystals in various parts of the body, including the bone marrow, conjunctiva and cornea
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Current Data About
Abderhalden–Kaufmann–Lignac syndrome
| (P31) |
(Q12136)
|
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| (P279) |
(Q1149042)
(Q55998573) |
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| (P373) |
Abderhalden–Kaufmann–Lignac syndrome
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| (P1748) |
C129932
|
other details
| aliases |
Abderhalden-Kaufmann-Lignac syndrome nephropathic cystinosis Abderhalden Kaufmann Lignac syndrome Abderhalden Lignac Kaufmann disease Abderhalden-Lignac-Kaufmann disease |
| description | rare autosomal-recessive, lysomal storage childhood disorder involving deposits of cystine crystals in various parts of the body, including the bone marrow, conjunctiva and cornea |
External Links
| (P486) |
C535335
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| (P492) |
219800
|
| (P493) |
270.0
|
| (P1417) |
topic/nephropathic-cystinosis
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| (P2892) |
C2930877
|
| (P4317) |
10074
|
| (P5270) |
MONDO_0021725
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| (P11143) |
Abderhalden–Kaufmann–Lignac syndrome
|