Chops syndrome

Preferred Label : Chops syndrome;

Symbol : CHOPS;

CISMeF acronym : CHOPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the AF4/FMR2 family, member 4 gene (AFF4, 604417.0001);

Prefixed ID : #616368;

Détails

Origin ID

616368;

UMLS CUI

C4085597;

Automatic exact mappings (from CISMeF team)
- AFF4 wt Allele [NCIt concept]
- EPOCH protocol [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome [ORDO Disease]
Genes related to phenotype
- Alf transcription elongation factor 4 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Aspiration pneumonia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cataract [HPO term]
- Chronic lung disease [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Downturned corners of mouth [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Laryngomalacia [HPO term]
- Long eyelashes [HPO term]
- Obesity [HPO term]
- Optic atrophy [HPO term]
- Patent ductus arteriosus [HPO term]
- Proptosis [HPO term]
- Round face [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Thick eyebrow [HPO term]
- Thick hair [HPO term]
- Tracheal stenosis [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome [ORDO Disease]

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