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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619950
http://purl.bioontology.org/ontology/OMIM/619950
|
|---|---|
| Preferred Name | TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 |
| Synonyms |
TEBIVANED3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | TEBIVANED3
|
|---|---|
| prefLabel | TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
|
| Gene Symbol |
H4FJ
H4C5
TEBIVANED3
HIST1H4E
|
| Scope Statement | Highly variable manifestations [MISCELLANEOUS]
Caused by mutation in the H4 clustered histone 5 gene (H4C5, 602830.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6p21.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619950
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774310
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |