Bamforth-lazarus syndrome

Preferred Label : Bamforth-lazarus syndrome;

Symbol : BAMLAZ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bamforth syndrome; Hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate;

Inheritance : Autosomal recessive;

Prefixed ID : #241850;

Détails

Origin ID

241850;

UMLS CUI

C1855794;

Automatic exact mappings (from CISMeF team)
- Bamforth-Lazarus syndrome [ICD-11 More detail]
CISMeF manual mappings
- Bamforth Lazarus syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bamforth syndrome [MeSH concept]
- Bamforth-Lazarus syndrome [DO Concept]
- Bamforth-Lazarus syndrome [ORDO Disease]
- bamforth syndrome [MeSH Supplementary Concept]
DO Cross reference
- Bamforth-Lazarus syndrome [DO Concept]
Genes related to phenotype
- Forkhead box e1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid epiglottis [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Polyhydramnios [HPO term]
- Thyroid agenesis [HPO term]
ORDO concept(s)
- Bamforth-Lazarus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bamforth Lazarus syndrome (disorder) [SNOMED CT concept]
- Bamforth syndrome [MeSH concept]
- Bamforth-Lazarus syndrome [ORDO Disease]
- Bamforth-Lazarus syndrome [DO Concept]
- Bamforth-Lazarus syndrome [MedDRA Preferred Term]
- bamforth syndrome [MeSH Supplementary Concept]

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

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