Chitayat syndrome

Preferred Label : Chitayat syndrome;

Symbol : CHYTS;

CISMeF acronym : CHYTS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ETS2 repressor-factor gene (ERF, 611888.0008);

Prefixed ID : #617180;

Details

Origin ID

617180;

UMLS CUI

C4310679;

Genes related to phenotype
- Ets2 repressor factor [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Bronchomalacia [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Hallux valgus [HPO term]
- Hypertelorism [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Proptosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory distress [HPO term]
- Short columella [HPO term]
- Short stature [HPO term]
- Thick vermilion border [HPO term]
- Tracheomalacia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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