Diamond-blackfan anemia 8

Preferred Label : Diamond-blackfan anemia 8;

Symbol : DBA8;

CISMeF acronym : DBA8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein-S7 gene (RPS7, 603658.0001);

Laboratory abnormalities : Elevated adenosine deaminase (ADA) activity; Elevated levels of reduced glutathione (GSH); Mild hepatic iron overload (patient A);

Prefixed ID : #612563;

Details

Origin ID

612563;

UMLS CUI

C2675511;

Automatic exact mappings (from CISMeF team)
- RPS7 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 8 [NCIt concept]
- Diamond-Blackfan anemia 8 [DO Concept]
- Diamond-Blackfan anemia 8 [MeSH concept]
- Diamond-Blackfan anemia 8 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-Blackfan anemia 8 [DO Concept]
Genes related to phenotype
- Ribosomal protein s7 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Increased mean corpuscular volume [HPO term]
- Macrocytic anemia [HPO term]
- Neutropenia [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Thick upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diamond-Blackfan Anemia 8 [NCIt concept]
- Diamond-Blackfan anemia 8 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 8 [MeSH concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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