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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Beta thalassemia major #6065

Closed johannaest closed 4 years ago

johannaest commented 4 years ago

Preferred term label: Beta thalassemia major

Synonyms Cooley's anemia, Mediterranean anemia

Definition (free text, please give PubMed ID) Hereditary blood disorder characterized by severe anemia within the first two years of life. Findings in untreated individuals are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis and skeletal changes that result from expansion of the bone marrow. PMID: 20492708

Parent term (use hpo.jax.org/app) Thalassemia

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) OMIM: 613985

Your nano-attribution (ORCID) HBB (OMIM: 141900), LCRB (OMIM: 152424)

pnrobinson commented 4 years ago

This is a disease and not a phenotype. Here is the phenotype that is most closely related to the disease https://hpo.jax.org/app/browse/term/HP:0011906