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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/242860
http://purl.bioontology.org/ontology/OMIM/242860
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 |
| Synonyms |
IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16
ICF1
IMMUNODEFICIENCY SYNDROME, VARIABLE
CIID
CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16
ICF1
IMMUNODEFICIENCY SYNDROME, VARIABLE
CIID
CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME
|
|---|---|
| prefLabel | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
| Gene Symbol |
ICF1
DNMT3B
FSHD4
|
| Scope Statement | Centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations [MISCELLANEOUS]
Caused by mutation in the DNA methyl-transferase 3B gene (DNMT3B, 602900.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 20q11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 242860
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0398788
C4551557
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| Moved from | 243340
|
| 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 |