Cohen syndrome

Preferred Label : Cohen syndrome;

Symbol : COH1;

CISMeF acronym : COH; COH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chs1; Hypotonia, obesity, and prominent incisors; Pepper syndrome; COH;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the yeast vacuolar protein sorting 13 gene (VPS13B, 607817.0001);

Prefixed ID : #216550;

Détails

Origin ID

216550;

UMLS CUI

C0265223;

Automatic exact mappings (from CISMeF team)
- Cohen syndrome [DO Concept]
- LYST wt Allele [NCIt concept]
- Lysosomal-Trafficking Regulator [NCIt concept]
- Stage 4S Neuroblastoma [NCIt concept]
Currated CISMeF NLP mapping
- Cohen syndrome [PASCAL descriptor]
- Cohen syndrome [Disease (Nov.)]
- Cohen syndrome [ICD-11 More detail]
- Cohen syndrome [MedDRA Preferred Term]
- Cohen syndrome [MeSH concept]
- Cohen syndrome [ORDO Disease]
- Cohen syndrome (disorder) [SNOMED CT concept]
- cohen syndrome [MeSH Supplementary Concept]
- cohen syndrome [SNOMED Notion]
DO Cross reference
- Cohen syndrome [DO Concept]
Genes related to phenotype
- Vacuolar protein sorting 13 homolog b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Bull's eye maculopathy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Childhood-onset truncal obesity [HPO term]
- Chorioretinal dystrophy [HPO term]
- Convex nasal ridge [HPO term]
- Cubitus valgus [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed puberty [HPO term]
- Downslanted palpebral fissures [HPO term]
- Facial hypotonia [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Genu valgum [HPO term]
- High, narrow palate [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Large corpus callosum [HPO term]
- Laryngomalacia [HPO term]
- Leukopenia [HPO term]
- Lumbar hyperlordosis [HPO term]
- Macrodontia of permanent maxillary central incisor [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Mild micrognathia [HPO term]
- Mild shortening of metacarpals [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow palm [HPO term]
- Neonatal hypotonia [HPO term]
- Neutropenia [HPO term]
- Nyctalopia [HPO term]
- Open mouth [HPO term]
- Optic atrophy [HPO term]
- Pes planus [HPO term]
- Prominent nasal bridge [HPO term]
- Reduced visual acuity [HPO term]
- Seizure [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Small for gestational age [HPO term]
- Tapered finger [HPO term]
- Thick corpus callosum [HPO term]
- Thick eyebrow [HPO term]
- Thoracic scoliosis [HPO term]
- Truncal obesity developing in mid-childhood [HPO term]
- Visual impairment [HPO term]
- mild thoracic scoliosis [HPO term]
ORDO concept(s)
- Cohen syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cohen syndrome [MedDRA Preferred Term]
- Cohen syndrome [ORDO Disease]
- Cohen syndrome [MeSH concept]
- Cohen syndrome [PASCAL descriptor]
- Cohen syndrome [Disease (Nov.)]
- Cohen syndrome [ICD-11 More detail]
- Cohen syndrome [DO Concept]
- Cohen syndrome (disorder) [SNOMED CT concept]
- cohen syndrome [MeSH Supplementary Concept]
- cohen syndrome [SNOMED Notion]

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