Hydrolethalus syndrome 1

Preferred Label : Hydrolethalus syndrome 1;

Symbol : HLS1;

CISMeF acronym : HLS1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HYLS1 gene (HYLS1, 610693.0001);

Prefixed ID : #236680;

Détails

Origin ID

236680;

UMLS CUI

C1856016;

Automatic exact mappings (from CISMeF team)
- HYLS1 centriolar and ciliogenesis associated [ORDO Gene]
- Hydrolethalus [ICD-11 More detail]
- hydrolethalus syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Hydrolethalus [ORDO Disease]
- Hydrolethalus syndrome [MeSH concept]
- Hydrolethalus syndrome [PASCAL descriptor]
- Hydrolethalus syndrome (disorder) [SNOMED CT concept]
- hydrolethalus syndrome [MeSH Supplementary Concept]
- hydrolethalus syndrome [Disease (Nov.)]
- hydrolethalus syndrome [DO Concept]
- hydrolethalus syndrome 1 [MeSH concept]
DO Cross reference
- hydrolethalus syndrome 1 [DO Concept]
Genes related to phenotype
- Hyls1 centriolar and ciliogenesis-associated protein [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Abnormal lung lobation [HPO term]
- Abnormal vagina morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Absent septum pellucidum [HPO term]
- Accessory spleen [HPO term]
- Adrenal gland dysgenesis [HPO term]
- Agenesis of corpus callosum [HPO term]
- Agenesis of the diaphragm [HPO term]
- Anencephaly [HPO term]
- Arrhinencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nose [HPO term]
- Bifid uterus [HPO term]
- Broad neck [HPO term]
- Cleft in skull base [HPO term]
- Cleft palate [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Dandy-Walker malformation [HPO term]
- Duplication of phalanx of hallux [HPO term]
- Gray matter heterotopia [HPO term]
- Hydronephrosis [HPO term]
- Hypospadias [HPO term]
- Intrauterine growth retardation [HPO term]
- Laryngeal hypoplasia [HPO term]
- Low-set ears [HPO term]
- Median cleft lip [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Midline defect of the nose [HPO term]
- Omphalocele [HPO term]
- Polyhydramnios [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Proximal tibial hypoplasia [HPO term]
- Severe hydrocephalus [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Talipes equinovarus [HPO term]
- Tracheal stenosis [HPO term]
- Upper limb undergrowth [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Hydrolethalus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hydrolethalus syndrome 1 [MeSH Supplementary Concept]
- hydrolethalus syndrome 1 [MeSH concept]
Validated automatic mappings to BTNT
- hydrolethalus syndrome 1 [MeSH Supplementary Concept]

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

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