Townes-brocks syndrome 1

Preferred Label : Townes-brocks syndrome 1;

Symbol : TBS1;

CISMeF acronym : TBS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Renal-ear-anal-radial syndrome; Rear syndrome; Anus, imperforate, with hand, foot, and ear anomalies; Deafness, sensorineural, with imperforate anus and thumb anomalies;

Included titles and symbols : Townes-brocks-branchiootorenal-like syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sal-like 1 gene (SALL1, 602218.0001);

Prefixed ID : #107480;

Details

Origin ID

107480;

UMLS CUI

C4551481;

Automatic exact mappings (from CISMeF team)
- Townes-Brocks-Branchiootorenal-Like syndrome [MeSH concept]
- Townes-Brocks-Branchiootorenal-Like syndrome [MeSH Supplementary Concept]
- Transmitted by (attribute) [SNOMED CT concept]
- Tube Dosing Unit [NCIt concept]
- Tuberculosis [MedDRA Preferred Term]
- Tuberculosis [NCIt concept]
- tuberculosis [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Townes syndrome (disorder) [SNOMED CT concept]
- Townes-Brocks Syndrome [NCIt concept]
- Townes-Brocks syndrome [DO Concept]
- Townes-Brocks syndrome [ICD-11 More detail]
- Townes-Brocks syndrome [MeSH concept]
- Townes-Brocks syndrome [MeSH Supplementary Concept]
- Townes-Brocks syndrome [ORDO Disease]
- townes syndrome [SNOMED Notion]
DO Cross reference
- Townes-Brocks syndrome [DO Concept]
False automatic mappings
- Tributyrin [NCIt concept]
Genes related to phenotype
- Sal-like 1 [OMIM gene]
HPO term(s)
- 1-2 toe syndactyly [HPO term]
- 2-3 toe syndactyly [HPO term]
- 2-4 finger syndactyly [HPO term]
- 3-4 finger syndactyly [HPO term]
- 3-4 toe syndactyly [HPO term]
- 4-5 toe syndactyly [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Aplasia/Hypoplasia of the 3rd toe [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Bifid uterus [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Choanal atresia [HPO term]
- Chorioretinal coloboma [HPO term]
- Clinodactyly of the 5th toe [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Duane anomaly [HPO term]
- Duodenal atresia [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Holoprosencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hypospadias [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Lop ear [HPO term]
- Macrotia [HPO term]
- Metatarsal synostosis [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Overfolding of the superior helices [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Preaxial hand polydactyly [HPO term]
- Pseudoepiphyses of second metacarpal [HPO term]
- Rectoperineal fistula [HPO term]
- Rectovaginal fistula [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Satyr ear [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short metatarsal [HPO term]
- Small for gestational age [HPO term]
- Stahl ear [HPO term]
- Talipes [HPO term]
- Tethered cord [HPO term]
- Tetralogy of Fallot [HPO term]
- Tracheoesophageal fistula [HPO term]
- Triphalangeal thumb [HPO term]
- Umbilical hernia [HPO term]
- Urethral valve [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Townes-Brocks syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Townes syndrome (disorder) [SNOMED CT concept]
- Townes-Brocks Syndrome [NCIt concept]
- Townes-Brocks syndrome [MeSH Supplementary Concept]
- Townes-Brocks syndrome [MeSH concept]
- Townes-Brocks syndrome [ORDO Disease]
- Townes-Brocks syndrome [DO Concept]
- townes syndrome [SNOMED Notion]

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