Tarp syndrome - CISMeF

Preferred Label : Tarp syndrome;

Symbol : TARPS;

CISMeF acronym : TARPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava; Pierre robin syndrome with congenital heart malformation and clubfoot;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the RNA-binding motif protein 10 gene (RBM10, 300080.0001);

Prefixed ID : #311900;

Détails

Origin ID

311900;

UMLS CUI

C1839463;

Automatic exact mappings (from CISMeF team)
- RBM10 wt Allele [NCIt concept]
- TARP [MeSH concept]
- TARP [MeSH Supplementary Concept]
- TARP Gene [NCIt concept]
- TARP syndrome [DO Concept]
- Tissue Array Research Program [NCIt concept]
Currated CISMeF NLP mapping
- Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) [SNOMED CT concept]
- TARP - [Syndactyly - telecanthus - anogenital and renal malformations] syndrome [ICD-11 More detail]
- TARP syndrome [MeSH concept]
- TARP syndrome [MeSH Supplementary Concept]
- TARP syndrome [ORDO Disease]
DO Cross reference
- TARP syndrome [DO Concept]
Genes related to phenotype
- Rna-binding motif protein 10 [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Anteverted nares [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cutaneous syndactyly [HPO term]
- Deep palmar crease [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Glossoptosis [HPO term]
- High palate [HPO term]
- Horseshoe kidney [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Optic atrophy [HPO term]
- Pectus excavatum [HPO term]
- Postaxial polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent antihelix [HPO term]
- Short palpebral fissure [HPO term]
- Short sternum [HPO term]
- Single transverse palmar crease [HPO term]
- Talipes equinovarus [HPO term]
- Tetralogy of Fallot [HPO term]
- Tongue nodules [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Wide nasal bridge [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- TARP syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) [SNOMED CT concept]
- TARP syndrome [ORDO Disease]
- TARP syndrome [MeSH Supplementary Concept]
- TARP syndrome [MeSH concept]
- TARP syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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