loading...| Preferred Name | Hemoglobin D Disease | |
| Synonyms |
Homozygous Hemoglobin D Hb DD |
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| Definitions |
An autosomal recessive hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). |
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| ID |
http://purl.obolibrary.org/obo/SCDO_0000524 |
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| curator note |
Suggest update to description in ORDO |
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| database cross reference |
DOID:5378 |
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| definition |
An autosomal recessive hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). |
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| definition source |
http://www.orpha.net/ORDO/Orphanet_90039 http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf |
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| existence in other ontologies |
Suggest update to description |
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| has causal or contributing genetic variation |
http://purl.obolibrary.org/obo/SCDO_1000109 http://purl.obolibrary.org/obo/SCDO_1000108 http://purl.obolibrary.org/obo/SCDO_1000114 http://purl.obolibrary.org/obo/SCDO_1000110 http://purl.obolibrary.org/obo/SCDO_1000113 http://purl.obolibrary.org/obo/SCDO_1000112 |
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| has mode of inheritance | ||
| hasExactSynonym |
Homozygous Hemoglobin D Hb DD |
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| prefixIRI |
SCDO:0000524 |
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| prefLabel |
Hemoglobin D Disease |
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| rdfs:label |
Hemoglobin D Disease |
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| skos:prefLabel |
Hemoglobin D Disease |
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| subClassOf |