Robinow-sorauf syndrome

Preferred Label : Robinow-sorauf syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acrocephalosyndactyly, robinow-sorauf type; Craniosynostosis-bifid hallux syndrome;

Inheritance : Autosomal dominant; ? same as Saethre-Chotzen syndrome;

Prefixed ID : #180750;

Détails

Origin ID

180750;

UMLS CUI

C1867146;

Automatic exact mappings (from CISMeF team)
- Robinow-Sorauf syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Robinow Sorauf syndrome [MeSH concept]
- Robinow-Sorauf syndrome [ORDO Disease]
- robinow sorauf syndrome [MeSH Supplementary Concept]
DO Cross reference
- Saethre-Chotzen syndrome [DO Concept]
Genes related to phenotype
- Twist family bhlh transcription factor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Duplication of phalanx of hallux [HPO term]
- Flat face [HPO term]
- Hypertelorism [HPO term]
- Long nose [HPO term]
- Malar flattening [HPO term]
- Narrow nose [HPO term]
- Plagiocephaly [HPO term]
- Plagiocephaly (asymmetry of orbits) [HPO term]
- Shallow orbits [HPO term]
- Strabismus [HPO term]
- Thin, long, pointed nose [HPO term]
ORDO concept(s)
- Robinow-Sorauf syndrome [ORDO Disease]
- Saethre-Chotzen syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Robinow Sorauf syndrome [MeSH concept]
- Robinow-Sorauf syndrome [ORDO Disease]
- robinow sorauf syndrome [MeSH Supplementary Concept]

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

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