Diamond-blackfan anemia 15 with mandibulofacial dysostosis

Preferred Label : Diamond-blackfan anemia 15 with mandibulofacial dysostosis;

Symbol : DBA15;

CISMeF acronym : DBA15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein S28 gene (RPS28, 603685.0001);

Prefixed ID : #606164;

Details

Origin ID

606164;

UMLS CUI

C4225411;

Currated CISMeF NLP mapping
- Diamond Blackfan anemia 15 with mandibulofacial dysostosis [DO Concept]
- Diamond-Blackfan anemia with microtia and cleft palate [MeSH concept]
- Diamond-Blackfan anemia with microtia and cleft palate [MeSH Supplementary Concept]
DO Cross reference
- Diamond Blackfan anemia 15 with mandibulofacial dysostosis [DO Concept]
Genes related to phenotype
- Ribosomal protein s28 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad neck [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Granulocytopenia [HPO term]
- Infantile onset [HPO term]
- Macrocytic anemia [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Mixed hearing impairment [HPO term]
- Posteriorly rotated ears [HPO term]
- Respiratory distress [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Sparse and thin eyebrow [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Blackfan-Diamond anaemia [ICD-11 More detail]
- Blackfan-Diamond anemia [ORDO Disease]

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