Chromosome 2q37 deletion syndrome

Preferred Label : Chromosome 2q37 deletion syndrome;

CISMeF acronym : BDMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BDMR; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-mental retardation syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by contiguous gene deletion at chromosome 2q37;

Laboratory abnormalities : Normal G(s)-alpha levels (139320);

Prefixed ID : #600430;

Détails

Origin ID

600430;

UMLS CUI

C2931817;

Currated CISMeF NLP mapping
- 2q37 deletion [ICD-11 More detail]
- 2q37 microdeletion syndrome [ORDO Disease]
- Chromosome 2q37 Deletion Syndrome [NCIt concept]
- Chromosome 2q37 deletion syndrome (disorder) [SNOMED CT concept]
- chromosome 2q37 deletion syndrome [MeSH concept]
- chromosome 2q37 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q37 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 2q37 deletion syndrome [DO Concept]
HPO term(s)
- Aggressive behavior [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Broad face [HPO term]
- Broad nasal tip [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Eczema [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperactivity [HPO term]
- Hypoplasia of the toes [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Pain insensitivity [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Somatic mutation [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Wide nose [HPO term]
Narrower ORDO disease(s)
- 2q37 microdeletion syndrome [ORDO Disease]
ORDO concept(s)
- 2q37 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2q37 deletion [ICD-11 More detail]
- 2q37 microdeletion syndrome [ORDO Disease]
- Chromosome 2q37 Deletion Syndrome [NCIt concept]
- Chromosome 2q37 deletion syndrome (disorder) [SNOMED CT concept]
- chromosome 2q37 deletion syndrome [MeSH concept]
- chromosome 2q37 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q37 deletion syndrome [DO Concept]

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

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