Elsahy-waters syndrome

Preferred Label : Elsahy-waters syndrome;

Symbol : ESWS;

CISMeF acronym : ESWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachioskeletogenital syndrome; Bsg syndrome; Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cadherin-11 gene (CDH11, 600023.0001);

Prefixed ID : #211380;

Détails

Origin ID

211380;

UMLS CUI

C0809936;

Automatic exact mappings (from CISMeF team)
- Elsahy-Waters syndrome [DO Concept]
- hypospadias, hypertelorism, upper lid coloboma, and Mixed-Type hearing loss [MeSH concept]
- hypospadias, hypertelorism, upper lid coloboma, and Mixed-Type hearing loss [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Brachioskeletogenital syndrome [MeSH concept]
- Branchio-skeleto-genital syndrome [ICD-11 More detail]
- Branchioskeletogenital syndrome [ORDO Disease]
- Branchioskeletogenital syndrome (disorder) [SNOMED CT concept]
- brachioskeletogenital syndrome [MeSH Supplementary Concept]
DO Cross reference
- Elsahy-Waters syndrome [DO Concept]
Genes related to phenotype
- Cadherin 11 [OMIM gene]
HPO term(s)
- Abnormality of the vertebral column [HPO term]
- Anal stenosis [HPO term]
- Anteriorly placed anus [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Bifid uvula [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Broad philtrum [HPO term]
- Cataract [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous syndactyly [HPO term]
- Delayed eruption of teeth [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Exodeviation [HPO term]
- Facial asymmetry [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Megalocornea [HPO term]
- Midface retrusion [HPO term]
- Multiple impacted teeth [HPO term]
- Narrow forehead [HPO term]
- Pectus excavatum [HPO term]
- Penoscrotal hypospadias [HPO term]
- Phthisis bulbi [HPO term]
- Posteriorly rotated ears [HPO term]
- Proptosis [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Branchioskeletogenital syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchio-skeleto-genital syndrome [ICD-11 More detail]
- Branchioskeletogenital syndrome (disorder) [SNOMED CT concept]
- brachioskeletogenital syndrome [MeSH Supplementary Concept]

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

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