Jacobsen syndrome

Preferred Label : Jacobsen syndrome;

Symbol : JBS;

CISMeF acronym : JBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Partial 11q monosomy syndrome; Chromosome 11q deletion syndrome;

Inheritance : Isolated cases;

Molecular basis : Caused by a deletion of 11q23;

Laboratory abnormalities : Partial deletion of long arm of chromosome 11 (11q23-qter);

Prefixed ID : #147791;

Détails

Origin ID

147791;

UMLS CUI

C0795841;

Automatic exact mappings (from CISMeF team)
- Jacobsen Syndrome [DO Concept]
- Jacobsen syndrome [HGNC gene]
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome [DO Concept]
Currated CISMeF NLP mapping
- 11q partial monosomy syndrome [SNOMED Notion]
- Distal partial deletion of long arm of chromosome 11 (disorder) [SNOMED CT concept]
- Jacobsen Syndrome [NCIt concept]
- Jacobsen syndrome [PASCAL descriptor]
- Jacobsen syndrome [Disease (Nov.)]
- Jacobsen syndrome [ICD-11 More detail]
- Jacobsen syndrome [ORDO Disease]
- chromosome 11q partial deletion [MeSH Supplementary Concept]
- jacobsen distal 11q deletion syndrome [MeSH Descriptor]
- jacobsen distal 11q deletion syndrome [MeSH concept]
DO Cross reference
- Jacobsen Syndrome [DO Concept]
HPO term(s)
- Abnormal eyelash morphology [HPO term]
- Amblyopia [HPO term]
- Annular pancreas [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Brachydactyly [HPO term]
- Chorioretinal coloboma [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypoplasia [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Eyelid coloboma [HPO term]
- Failure to thrive [HPO term]
- Flat occiput [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Holoprosencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Isolated cases [HPO term]
- Labial hypoplasia [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macular hypoplasia [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Missing ribs [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Optic atrophy [HPO term]
- Pectus excavatum [HPO term]
- Ptosis [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Spasticity [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thrombocytopenia [HPO term]
- Trigonocephaly [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Jacobsen syndrome [ORDO Disease]
See also inter- (CISMeF)
- 11q partial monosomy syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 11q partial monosomy syndrome [SNOMED Notion]
- 11q partial monosomy syndrome (disorder) [SNOMED CT concept]
- Distal partial deletion of long arm of chromosome 11 (disorder) [SNOMED CT concept]
- Jacobsen Syndrome [NCIt concept]
- Jacobsen syndrome [ORDO Disease]
- Jacobsen syndrome [Disease (Nov.)]
- Jacobsen syndrome [MedDRA Preferred Term]
- jacobsen distal 11q deletion syndrome [MeSH Descriptor]
- jacobsen distal 11q deletion syndrome [MeSH concept]

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