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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/308940
http://purl.bioontology.org/ontology/OMIM/308940
|
|---|---|
| Preferred Name | LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME |
| Synonyms |
ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS
DL-ATS
CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME
LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
ATS-DL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS
DL-ATS
CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME
LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
ATS-DL
|
|---|---|
| prefLabel | LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME
|
| Scope Statement | Contiguous gene syndrome involving deletions of the collagen, type IV, alpha-5 (COL4A5, 303630) and collagen, type IV, alpha-6 (COL4A6, 303631) genes [MOLECULAR BASIS]
Renal failure in second or third decade [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 308940
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1839884
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |