Gabriele-de vries syndrome

Preferred Label : Gabriele-de vries syndrome;

Symbol : GADEVS;

CISMeF acronym : GADEVS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transcription factor YY1 gene (YY1, 600013.0001);

Prefixed ID : #617557;

Details

Origin ID

617557;

UMLS CUI

C4479652;

CISMeF manual mappings
- Gabriele-de Vries syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Gabriele-de Vries Syndrome [NCIt concept]
- Gabriele-de Vries syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Transcription factor yy1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Cryptorchidism [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dystonia [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Long fingers [HPO term]
- Malar flattening [HPO term]
- Periorbital fullness [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Strabismus [HPO term]
- Thick lower lip vermilion [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Gabriele-de Vries syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gabriele-de Vries Syndrome [NCIt concept]
- Gabriele-de Vries syndrome [ORDO Disease]
- Gabriele-de Vries syndrome (disorder) [SNOMED CT concept]

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