Chromosome 8q22.1 duplication syndrome

Preferred Label : Chromosome 8q22.1 duplication syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leri pleonosteosis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of 0.9 - 1.2 Mb on 8q22.1;

Prefixed ID : #151200;

Details

Origin ID

151200;

UMLS CUI

C1835450;

Currated CISMeF NLP mapping
- Leri pleonosteosis [MeSH concept]
- Leri pleonosteosis [ORDO Disease]
- leri pleonosteosis [Disease (Nov.)]
- leri pleonosteosis [MeSH Supplementary Concept]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Broad metacarpals [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Cervical C2/C3 vertebral fusion [HPO term]
- Cubitus valgus [HPO term]
- Enlarged interphalangeal joints [HPO term]
- Gastroesophageal reflux [HPO term]
- Genu recurvatum [HPO term]
- Hallux valgus [HPO term]
- Interphalangeal joint contracture of finger [HPO term]
- Joint stiffness [HPO term]
- Laryngeal stenosis [HPO term]
- Limitation of joint mobility [HPO term]
- Microcornea [HPO term]
- Narrow palpebral fissure [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short stepped shuffling gait [HPO term]
- Short thumb [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Leri pleonosteosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leri pleonosteosis [ORDO Disease]
- Leri pleonosteosis [MeSH concept]
- leri pleonosteosis [MeSH Supplementary Concept]
- leri pleonosteosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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