Neurodevelopmental disorder with epilepsy and hemochromatosis

Preferred Label : Neurodevelopmental disorder with epilepsy and hemochromatosis;

Symbol : NEDEPH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ferro-cerebro-cutaneous syndrome; FCCS;

Prefixed ID : #301072;

Details

Origin ID

301072;

UMLS CUI

C4751570;

Automatic exact mappings (from CISMeF team)
- Ferro-cerebro-cutaneous syndrome [ORDO Disease]
Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class a protein [OMIM gene]
ORDO concept(s)
- Ferro-cerebro-cutaneous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ferro-cerebro-cutaneous syndrome (disorder) [SNOMED CT concept]

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