Holt-oram syndrome

Preferred Label : Holt-oram syndrome;

Symbol : HOS;

CISMeF acronym : HOS; HOS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Heart-hand syndrome; Atriodigital dysplasia; HOS1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the T-Box 5 gene (TBX5, 601620.0001);

Prefixed ID : #142900;

Details

Origin ID

142900;

UMLS CUI

C0265264;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- TBX5 wt Allele [NCIt concept]
- hospitalization [MeSH Descriptor]
- symbol withdrawn HOS [HGNC gene]
Currated CISMeF NLP mapping
- Cardioskeletal syndromes [ICD-11 More detail]
- Heart-hand syndrome [ORDO Disease]
- Heart-hand syndrome type 1 [ICD-11 More detail]
- Holt Oram syndrome [Disease (Nov.)]
- Holt-Oram Syndrome [NCIt concept]
- Holt-Oram syndrome [PASCAL descriptor]
- Holt-Oram syndrome [DO Concept]
- Holt-Oram syndrome [MedDRA Preferred Term]
- Holt-Oram syndrome [MeSH concept]
- Holt-Oram syndrome [MeSH Supplementary Concept]
- Holt-Oram syndrome [ORDO Disease]
- Holt-Oram syndrome (disorder) [Inactive SNOMED CT concept]
- Holt-Oram syndrome (disorder) [SNOMED CT concept]
- holt-oram syndrome [SNOMED Notion]
DO Cross reference
- Holt-Oram syndrome [DO Concept]
False automatic mappings
- Honduras [NCIt concept]
Genes related to phenotype
- T-box transcription factor 5 [OMIM gene]
HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Aplasia of the pectoralis major muscle [HPO term]
- Aplasia of the ulna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Finger clinodactyly [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic left heart [HPO term]
- Limited elbow extension [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Phocomelia [HPO term]
- Secundum atrial septal defect [HPO term]
- Short clavicles [HPO term]
- Short digit [HPO term]
- Short humerus [HPO term]
- Small thenar eminence [HPO term]
- Syndactyly [HPO term]
- Thoracic scoliosis [HPO term]
- Triphalangeal thumb [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Holt-Oram syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heart-hand syndrome [ORDO Disease]
- Heart-hand syndrome type 1 [ICD-11 More detail]
- Holt Oram syndrome [Disease (Nov.)]
- Holt-Oram Syndrome [NCIt concept]
- Holt-Oram syndrome [ORDO Disease]
- Holt-Oram syndrome [MeSH Supplementary Concept]
- Holt-Oram syndrome [MeSH concept]
- Holt-Oram syndrome [MedDRA Preferred Term]
- Holt-Oram syndrome [DO Concept]
- Holt-Oram syndrome [PASCAL descriptor]
- Holt-Oram syndrome (disorder) [SNOMED CT concept]
- holt-oram syndrome [SNOMED Notion]

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