Online Mendelian Inheritance in Man - FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 - Classes

Preferred Name	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
Synonyms	HPFH
ID	http://purl.bioontology.org/ontology/OMIM/141749
altLabel	HPFH HEMOGLOBIN F, HEREDITARY PERSISTENCE OF HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, HB GENE CLUSTER-RELATED DELTA-BETA THALASSEMIA HBFQTL1
cui	C0271985 C1841621
Gene Locus	11p15.5
Gene Symbol	HBG2 TNCY
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU027093 http://purl.bioontology.org/ontology/OMIM/MTHU027096 http://purl.bioontology.org/ontology/OMIM/MTHU027095 http://purl.bioontology.org/ontology/OMIM/MTHU027094
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	141749
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
tui	T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C562716	Medical Subject Headings	CUI
http://purl.bmicc.cn/ontology/ICD10CN/D56.2	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/ICD10CM/D56.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10/D56.2	International Classification of Diseases, Version 10	CUI