Nivelon-nivelon-mabille syndrome

Preferred Label : Nivelon-nivelon-mabille syndrome;

Symbol : NNMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondrodysplasia-pseudohermaphroditism syndrome;

Inheritance : Autosomal recessive;

Laboratory abnormalities : 46,XY karyotype (1 of 2 patients);

Prefixed ID : #600092;

Détails

Origin ID

600092;

UMLS CUI

C1838654;

CISMeF manual mappings
- Chondrodysplasia with disorder of sex development syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Chondrodysplasia-disorder of sex development syndrome [ORDO Disease]
- Nivelon Nivelon Mabille syndrome [MeSH concept]
- chondrodysplasia-pseudohermaphroditism syndrome [DO Concept]
- nivelon nivelon mabille syndrome [MeSH Supplementary Concept]
DO Cross reference
- chondrodysplasia-pseudohermaphroditism syndrome [DO Concept]
Genes related to phenotype
- Hedgehog acyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brachydactyly [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Distal clavicular thinning [HPO term]
- Dwarfism [HPO term]
- Dysarthria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Focal-onset seizure [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypotonia [HPO term]
- Male pseudohermaphroditism [HPO term]
- Microcephaly [HPO term]
- Micromelia [HPO term]
- Muscle spasm [HPO term]
- Nail dysplasia [HPO term]
- Narrow chest [HPO term]
- Narrow, bell-shaped thorax [HPO term]
- Optic disc coloboma [HPO term]
- Severe short stature [HPO term]
- Short metacarpal [HPO term]
- Short metacarpals and phalanges [HPO term]
- Short phalanx of finger [HPO term]
- Thin corpus callosum [HPO term]
- Trapezoidal vertebral body [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Chondrodysplasia-disorder of sex development syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia with disorder of sex development syndrome (disorder) [SNOMED CT concept]
- Chondrodysplasia-disorder of sex development syndrome [ORDO Disease]
- Nivelon Nivelon Mabille syndrome [MeSH concept]
- chondrodysplasia-pseudohermaphroditism syndrome [DO Concept]
- nivelon nivelon mabille syndrome [MeSH Supplementary Concept]

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

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