Recombinant chromosome 8 syndrome

Preferred Label : Recombinant chromosome 8 syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 8q22.1-qter duplication and 8pter-p23.1 deletion; San luis valley syndrome; Rec8 syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of 8q22.1-qter and deletion of 8pter-p23.1;

Laboratory abnormalities : Cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1;

Prefixed ID : #179613;

Détails

Origin ID

179613;

UMLS CUI

C0795822;

Currated CISMeF NLP mapping
- Recombinant 8 syndrome [ORDO Disease]
- Recombinant chromosome 8 syndrome [ICD-11 More detail]
- Recombinant chromosome 8 syndrome [MeSH concept]
- Recombinant chromosome 8 syndrome (disorder) [SNOMED CT concept]
- recombinant chromosome 8 syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the genitourinary system [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad face [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Delayed CNS myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Double outlet right ventricle [HPO term]
- Downturned corners of mouth [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Genitourinary tract malformation [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Infra-orbital crease [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Pulmonic stenosis [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Recombinant 8 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Recombinant 8 syndrome [ORDO Disease]
- Recombinant chromosome 8 syndrome [MeSH concept]
- Recombinant chromosome 8 syndrome [ICD-11 More detail]
- Recombinant chromosome 8 syndrome (disorder) [SNOMED CT concept]
- recombinant chromosome 8 syndrome [MeSH Supplementary Concept]

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

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