cataract 5 multiple types
cataract that has material basis in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22
Facts
5 properties- Instance of
- rare disease, class of disease[4]
- Subclass of
- cataract, developmental defect during embryogenesis
- Health specialty
- medical genetics[5]
- On focus list of Wikimedia project
- WikiProject Medicine[7]
🏷️ Also known as
en cataract 5 multiple types
en CATARACT 5, MULTIPLE TYPES
en CATARACT 5, MULTIPLE TYPES; CTRCT5
en Cataract, Lamellar
en Cataract, Marner Type
en CTRCT5
🔖 Identifiers · 9
- Disease Ontology ID
- DOID:0110255
- Exact match
- purl.obolibrary.org, identifiers.org, purl.obolibrary.org
- Human Phenotype Ontology ID
- HP:0010920
- ICD-10-CM
- Q12.0
- MeSH descriptor ID
- C535342
- Mondo ID
- MONDO_0007290
- OMIM ID
- 116800
- UniProt disease ID
- DI-02507
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