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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619004
http://purl.bioontology.org/ontology/OMIM/619004
|
|---|---|
| Preferred Name | DEEAH SYNDROME |
| Synonyms |
DEEAH
DEVELOPMENTAL DELAY WITH ENDOCRINE, EXOCRINE, AUTONOMIC, AND HEMATOLOGIC ABNORMALITIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEEAH
DEVELOPMENTAL DELAY WITH ENDOCRINE, EXOCRINE, AUTONOMIC, AND HEMATOLOGIC ABNORMALITIES
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|---|---|
| prefLabel | DEEAH SYNDROME
|
| Gene Symbol |
MADD
DENN
NEDDISH
DEEAH
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| Scope Statement | Onset in early infancy [MISCELLANEOUS]
Death in childhood (in some patients) [MISCELLANEOUS]
Multisystemic disorder [MISCELLANEOUS]
Caused by mutation in the MAP kinase-activating death domain gene (MADD, 603584.0005) [MOLECULAR BASIS]
Variable features [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 11p11.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 619004
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5436579
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |