Sweeney-cox syndrome

Preferred Label : Sweeney-cox syndrome;

Symbol : SWCOS;

CISMeF acronym : SWCOS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of Drosophila TWIST 1 gene (TWIST1, 601622.0015);

Prefixed ID : #617746;

Details

Origin ID

617746;

UMLS CUI

C4540299;

Automatic exact mappings (from CISMeF team)
- Sweeney-Cox syndrome [DO Concept]
DO Cross reference
- Sweeney-Cox syndrome [DO Concept]
Genes related to phenotype
- Twist family bhlh transcription factor 1 [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Asplenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral cryptorchidism [HPO term]
- Brachycephaly [HPO term]
- Broad neck [HPO term]
- Cerebellar hypoplasia [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cupped ear [HPO term]
- Cutaneous syndactyly [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hirsutism [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Long fingers [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Narrow mouth [HPO term]
- Overfolded helix [HPO term]
- Prominent metopic ridge [HPO term]
- Short clavicles [HPO term]
- Short columella [HPO term]
- Short philtrum [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upper eyelid coloboma [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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