Endocrine-cerebroosteodysplasia

Preferred Label : Endocrine-cerebroosteodysplasia;

Symbol : ECO;

CISMeF acronym : ECO;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intestinal cell kinase gene (ICK, 612325.0001);

Prefixed ID : #612651;

Détails

Origin ID

612651;

UMLS CUI

C2675227;

Automatic exact mappings (from CISMeF team)
- CILK1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Endocrine-Cerebroosteodysplasia [MeSH concept]
- Endocrine-Cerebroosteodysplasia [MeSH Supplementary Concept]
- Endocrine-cerebro-osteodysplasia syndrome [ORDO Disease]
- Endocrine-cerebro-osteodysplasia syndrome (disorder) [SNOMED CT concept]
- endocrine-cerebro-osteodysplasia syndrome [DO Concept]
- endocrinecerebroosteodysplasia syndrome [Disease (Nov.)]
DO Cross reference
- endocrine-cerebro-osteodysplasia syndrome [DO Concept]
Genes related to phenotype
- Intestinal cell kinase [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Adrenal hypoplasia [HPO term]
- Ambiguous genitalia [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal tip [HPO term]
- Dysplastic ears [HPO term]
- Enlarged kidney [HPO term]
- Flattened nasal tip [HPO term]
- Holoprosencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hypospadias [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Micropenis [HPO term]
- Microphallus [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Natal tooth [HPO term]
- Polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Preaxial polydactyly [HPO term]
- Sandal gap [HPO term]
- Sex reversal [HPO term]
- Shield chest [HPO term]
- Small scrotum [HPO term]
- Syndactyly [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
- Ventriculomegaly [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Endocrine-cerebro-osteodysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Endocrine-Cerebroosteodysplasia [MeSH Supplementary Concept]
- Endocrine-Cerebroosteodysplasia [MeSH concept]
- Endocrine-cerebro-osteodysplasia syndrome [ORDO Disease]
- endocrine-cerebro-osteodysplasia syndrome [DO Concept]
- endocrinecerebroosteodysplasia syndrome [Disease (Nov.)]

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

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