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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620969
http://purl.bioontology.org/ontology/OMIM/620969
|
|---|---|
| Preferred Name | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb |
| Synonyms |
CDAN4B
ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN
CDA, TYPE IVb
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CDAN4B
ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN
CDA, TYPE IVb
|
|---|---|
| prefLabel | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb
|
| Gene Symbol |
CDAN4B
EKLF
KLF1
INLU
HBFQTL6
CDAN4A
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| Scope Statement | Caused by mutation in the kruppel-like factor 1 gene (KLF1, 600599.0001) [MOLECULAR BASIS]
Onset in utero or at birth [MISCELLANEOUS]
Heterozygous carriers have increased HbF [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19p13.13-p13.12
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 620969
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975438
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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 |