Toe syndactyly, telecanthus, and anogenital and renal malformations

Preferred Label : Toe syndactyly, telecanthus, and anogenital and renal malformations;

Symbol : STAR;

CISMeF acronym : STAR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Syndactyly with renal and anogenital malformations; Star syndrome;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the family with sequence similarity 58, member A gene (FAM58A, 300708.0001);

Prefixed ID : #300707;

Details

Origin ID

300707;

UMLS CUI

C2678045;

Automatic exact mappings (from CISMeF team)
- GUCY2C wt Allele [NCIt concept]
- Heat-Stable Enterotoxin Receptor [NCIt concept]
- Study of Tamoxifen and Raloxifene [NCIt concept]
- guanylate cyclase 2C [ORDO Gene]
- guanylate cyclase 2C [HGNC gene]
- steroidogenic acute regulatory protein [ORDO Gene]
- steroidogenic acute regulatory protein [HGNC gene]
- syndactyly-telecanthus-anogenital and renal malformations syndrome [DO Concept]
Currated CISMeF NLP mapping
- Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) [SNOMED CT concept]
- Syndactyly-telecanthus-anogenital and renal malformations syndrome [ORDO Disease]
- toe syndactyly, telecanthus, and anogenital and renal malformations [MeSH concept]
- toe syndactyly, telecanthus, and anogenital and renal malformations [MeSH Supplementary Concept]
DO Cross reference
- syndactyly-telecanthus-anogenital and renal malformations syndrome [DO Concept]
Genes related to phenotype
- Cyclin q [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anal stenosis [HPO term]
- Bicornuate uterus [HPO term]
- Bicuspid aortic valve [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypertrophy [HPO term]
- Craniosynostosis [HPO term]
- Duane anomaly [HPO term]
- Intrauterine growth retardation [HPO term]
- Labial hypoplasia [HPO term]
- Low-set ears [HPO term]
- Narrow nose [HPO term]
- Pelvic kidney [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Rectovaginal fistula [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Spina bifida occulta [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Toe syndactyly [HPO term]
- Vesicoureteral reflux [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Syndactyly-telecanthus-anogenital and renal malformations syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) [SNOMED CT concept]
- Syndactyly-telecanthus-anogenital and renal malformations syndrome [ORDO Disease]
- syndactyly-telecanthus-anogenital and renal malformations syndrome [DO Concept]
- toe syndactyly, telecanthus, and anogenital and renal malformations [MeSH Supplementary Concept]
- toe syndactyly, telecanthus, and anogenital and renal malformations [MeSH concept]

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