Van esch-o'driscoll syndrome

Preferred Label : Van esch-o'driscoll syndrome;

Symbol : VEODS;

CISMeF acronym : VEODS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, van esch-o'driscoll type; MRXSVEOD;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the alpha-1 DNA polymerase gene (POLA1, 312040.0002);

Prefixed ID : #301030;

Details

Origin ID

301030;

UMLS CUI

C4305072;

Automatic exact mappings (from CISMeF team)
- Van Esch-O'Driscoll syndrome [DO Concept]
Currated CISMeF NLP mapping
- X-linked intellectual disability, Van Esch type [ORDO Disease]
DO Cross reference
- Van Esch-O'Driscoll syndrome [DO Concept]
Genes related to phenotype
- Dna polymerase alpha-1, catalytic subunit [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Bifid uvula [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Increased circulating gonadotropin level [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long face [HPO term]
- Microcephaly [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonary valve atresia [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Shyness [HPO term]
- Spasticity [HPO term]
- Spina bifida occulta [HPO term]
- Unilateral vocal cord paralysis [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Van Esch type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability Van Esch type (disorder) [SNOMED CT concept]

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