Van den ende-gupta syndrome

Preferred Label : Van den ende-gupta syndrome;

Symbol : VDEGS;

CISMeF acronym : VDEGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marden-walker-like syndrome without psychomotor retardation; Blepharophimosis, arachnodactyly, and congenital contractures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the scavenger receptor class F, member 2 gene (SCARF2, 613619.0001);

Prefixed ID : #600920;

Détails

Origin ID

600920;

UMLS CUI

C1833136;

Currated CISMeF NLP mapping
- Marden Walker like syndrome [MeSH concept]
- Van den Ende-Gupta syndrome [ICD-11 More detail]
- Van den Ende-Gupta syndrome [DO Concept]
- Van den Ende-Gupta syndrome [ORDO Disease]
- Van den Ende-Gupta syndrome (disorder) [SNOMED CT concept]
- marden walker like syndrome [MeSH Supplementary Concept]
DO Cross reference
- Van den Ende-Gupta syndrome [DO Concept]
Genes related to phenotype
- Scavenger receptor class f, member 2 [OMIM gene]
HPO term(s)
- Abnormal eyebrow morphology [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly of toe [HPO term]
- Choanal stenosis [HPO term]
- Cleft palate [HPO term]
- Craniosynostosis [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated radial head [HPO term]
- Distal ulnar hypoplasia [HPO term]
- Elbow flexion contracture [HPO term]
- Everted lower lip vermilion [HPO term]
- Femoral bowing [HPO term]
- Flattened nasal bridge [HPO term]
- Glenoid fossa hypoplasia [HPO term]
- Hallux valgus [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic glenoid fossa [HPO term]
- Joint contracture of the hand [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Laryngomalacia [HPO term]
- Lateral clavicle hook [HPO term]
- Long hallux [HPO term]
- Long metacarpals [HPO term]
- Malar flattening [HPO term]
- Narrow foot [HPO term]
- Narrow nose [HPO term]
- Pectus excavatum [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Sclerocornea [HPO term]
- Single umbilical artery [HPO term]
- Slender long bone [HPO term]
- Slender metacarpals [HPO term]
- Stridor [HPO term]
- Talipes equinovarus [HPO term]
- Thin ribs [HPO term]
- Ulnar bowing [HPO term]
- Underdeveloped nasal alae [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Van den Ende-Gupta syndrome [ORDO Disease]
See also inter- (CISMeF)
- Marden Walker syndrome (disorder) [SNOMED CT concept]
- Marden-Walker syndrome [ORDO Disease]
- Marden-Walker syndrome [ICD-11 More detail]
- Marden-Walker syndrome [MeSH concept]
- Marden-Walker syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marden Walker like syndrome [MeSH concept]
- Van den Ende-Gupta syndrome [ORDO Disease]
- Van den Ende-Gupta syndrome [DO Concept]
- Van den Ende-Gupta syndrome (disorder) [SNOMED CT concept]
- marden walker like syndrome [MeSH Supplementary Concept]

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

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