Chromosome 6pter-p24 deletion syndrome

Preferred Label : Chromosome 6pter-p24 deletion syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Isolated cases;

Molecular basis : Contiguous gene syndrome caused by deletion (minimum 1.3Mb) of chromosome 6pter-p24;

Prefixed ID : #612582;

Détails

Origin ID

612582;

UMLS CUI

C2675486;

Currated CISMeF NLP mapping
- 6p24pter deletion [ICD-11 More detail]
- Distal monosomy 6p [ORDO Disease]
- Distal monosomy 6p (disorder) [SNOMED CT concept]
- chromosome 6pter-P24 deletion syndrome [MeSH concept]
- chromosome 6pter-P24 deletion syndrome [MeSH Supplementary Concept]
- chromosome 6pter-p24 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 6pter-p24 deletion syndrome [DO Concept]
HPO term(s)
- Abnormality of dental morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Atrial septal defect [HPO term]
- Axenfeld anomaly [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Broad toe [HPO term]
- Chronic constipation [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital onset [HPO term]
- Congenital vertical talus [HPO term]
- Corneal opacity [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Exotropia [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Frontal upsweep of hair [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dysplasia [HPO term]
- Hydrocephalus [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint laxity [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Ocular anterior segment dysgenesis [HPO term]
- Opacification of the corneal stroma [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pectus excavatum [HPO term]
- Peters anomaly [HPO term]
- Pigmentary retinopathy [HPO term]
- Posterior embryotoxon [HPO term]
- Posteriorly rotated ears [HPO term]
- Preauricular pit [HPO term]
- Rocker bottom foot [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 2nd toe [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Skin tags [HPO term]
- Specific learning disability [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Telangiectasia [HPO term]
- Telecanthus [HPO term]
- Tented upper lip vermilion [HPO term]
- Tetralogy of Fallot [HPO term]
- Umbilical hernia [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Distal monosomy 6p [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal monosomy 6p [ORDO Disease]
- chromosome 6pter-P24 deletion syndrome [MeSH Supplementary Concept]
- chromosome 6pter-P24 deletion syndrome [MeSH concept]
- chromosome 6pter-p24 deletion syndrome [DO Concept]

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

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