Fazio-londe disease

Preferred Label : Fazio-londe disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bulbar palsy, progressive, of childhood;

Description : Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).;

Inheritance : Autosomal recessive;

Prefixed ID : #211500;

Détails

Origin ID

211500;

UMLS CUI

C0015708;

Automatic exact mappings (from CISMeF team)
- Fazio-Londe disease [DO Concept]
- Fazio-Londe syndrome [ICD-11 More detail]
- bulbar palsy, progressive [MeSH Descriptor]
Currated CISMeF NLP mapping
- Fazio Londe disease [Disease (Nov.)]
- Fazio-Londe syndrome [MeSH concept]
- Progressive bulbar palsy of childhood (disorder) [SNOMED CT concept]
- Progressive bulbar paralysis of childhood [ORDO Disease]
- childhood progressive bulbar palsy [MeSH concept]
DO Cross reference
- Fazio-Londe disease [DO Concept]
Genes related to phenotype
- Solute carrier family 52 (riboflavin transporter), member 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Diaphragmatic weakness [HPO term]
- Diminished diaphragmatic motion [HPO term]
- Dysphagia [HPO term]
- Facial diplegia [HPO term]
- Generalized hyperreflexia [HPO term]
- Progressive inspiratory stridor [HPO term]
- Ptosis [HPO term]
ORDO concept(s)
- Progressive bulbar paralysis of childhood [ORDO Disease]
- Riboflavin transporter deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fazio-Londe syndrome [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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