Eiken syndrome

Preferred Label : Eiken syndrome;

Symbol : EKNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eiken skeletal dysplasia; Bone modeling defect of hands and feet;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the parathyroid hormone receptor-1 gene (PTHR1, 168468.0009);

Prefixed ID : #600002;

Détails

Origin ID

600002;

UMLS CUI

C1838779;

Automatic exact mappings (from CISMeF team)
- Eiken syndrome [ICD-11 More detail]
- Eiken syndrome [DO Concept]
Currated CISMeF NLP mapping
- Eiken Type Chondrodysplasia [NCIt concept]
- Eiken syndrome [Disease (Nov.)]
- Eiken syndrome [ORDO Disease]
- Eiken syndrome (disorder) [SNOMED CT concept]
- eiken skeletal dysplasia [MeSH concept]
- eiken skeletal dysplasia [MeSH Supplementary Concept]
DO Cross reference
- Eiken syndrome [DO Concept]
Genes related to phenotype
- Parathyroid hormone 1 receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad femoral neck [HPO term]
- Broad metatarsal [HPO term]
- Broad ribs [HPO term]
- Chiari malformation [HPO term]
- Clinodactyly [HPO term]
- Decreased body weight [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Delayed tarsal ossification [HPO term]
- Dolichocephaly [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Eruption failure [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Fibular hypoplasia [HPO term]
- Flat acetabular roof [HPO term]
- Flattened epiphysis [HPO term]
- Hypertelorism [HPO term]
- Long hallux [HPO term]
- Long thumb [HPO term]
- Low levels of vitamin D [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Multiple impacted teeth [HPO term]
- Multiple unerupted teeth [HPO term]
- Narrow pelvis bone [HPO term]
- Oligodontia [HPO term]
- Persistence of primary teeth [HPO term]
- Prominent forehead [HPO term]
- Pseudoepiphyses [HPO term]
- Short middle phalanx of finger [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Skeletal dysplasia [HPO term]
- Thick lower lip vermilion [HPO term]
- Thickened calvaria [HPO term]
- Type A1 brachydactyly [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Eiken syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Eiken syndrome [ORDO Disease]
- Eiken syndrome [Disease (Nov.)]
- Eiken syndrome [DO Concept]
- Eiken syndrome (disorder) [SNOMED CT concept]
- eiken skeletal dysplasia [MeSH Supplementary Concept]
- eiken skeletal dysplasia [MeSH concept]

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

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