Chromosome 15q26-qter deletion syndrome

Preferred Label : Chromosome 15q26-qter deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Drayer syndrome;

Inheritance : Isolated cases;

Molecular basis : A contiguous gene deletion syndrome caused by deletion (5.8 Mb) of chromosome 15q26-qter encompassing the IGF1R gene (147370);

Prefixed ID : #612626;

Details

Origin ID

612626;

UMLS CUI

C2675463;

Currated CISMeF NLP mapping
- 15q26.3 deletion [ICD-11 More detail]
- Distal monosomy 15q [ORDO Disease]
- Distal monosomy 15q syndrome (disorder) [SNOMED CT concept]
- chromosome 15q26-Qter deletion syndrome [MeSH concept]
- chromosome 15q26-Qter deletion syndrome [MeSH Supplementary Concept]
- chromosome 15q26-qter deletion syndrome [DO Concept]
DO Cross reference
- chromosome 15q26-qter deletion syndrome [DO Concept]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Isolated cases [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Onset in utero [HPO term]
- Short middle phalanx of finger [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Triangular face [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Distal monosomy 15q [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 15q26.3 deletion [ICD-11 More detail]
- Distal monosomy 15q [ORDO Disease]
- chromosome 15q26-Qter deletion syndrome [MeSH Supplementary Concept]
- chromosome 15q26-Qter deletion syndrome [MeSH concept]
- chromosome 15q26-qter deletion syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients