Jalili syndrome

Preferred Label : Jalili syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cone-rod dystrophy and amelogenesis imperfecta;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cyclin M4 gene (CNNM4, 607805.0001);

Prefixed ID : #217080;

Détails

Origin ID

217080;

UMLS CUI

C3495589;

Automatic exact mappings (from CISMeF team)
- Amaurosis hypertrichosis [MeSH concept]
- Amelogenesis imperfecta - cone rod dystrophy [ICD-11 More detail]
- Jalili syndrome [DO Concept]
- amaurosis hypertrichosis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder) [SNOMED CT concept]
- Cone rod dystrophy amelogenesis imperfecta [MeSH concept]
- Jalili syndrome [MeSH Supplementary Concept]
- Jalili syndrome [MeSH concept]
- Jalili syndrome [Disease (Nov.)]
- Jalili syndrome [ORDO Disease]
- cone rod dystrophy amelogenesis imperfecta [MeSH Supplementary Concept]
DO Cross reference
- Jalili syndrome [DO Concept]
Genes related to phenotype
- Cyclin m4 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Monochromacy [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
ORDO concept(s)
- Jalili syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder) [SNOMED CT concept]
- Jalili syndrome [MeSH Supplementary Concept]
- Jalili syndrome [Disease (Nov.)]
- Jalili syndrome [DO Concept]

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