Johnson neuroectodermal syndrome

Preferred Label : Johnson neuroectodermal syndrome;

CISMeF acronym : JMS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : JMS; Johnson-mcmillin syndrome; Aadh syndrome; Alopecia-anosmia-deafness-hypogonadism syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : %147770;

Details

Origin ID

147770;

UMLS CUI

C0796002;

Currated CISMeF NLP mapping
- Johnson neuroectodermal syndrome [ICD-11 More detail]
- Johnson neuroectodermal syndrome [MeSH concept]
- Johnson neuroectodermal syndrome [ORDO Disease]
- Johnson neuroectodermal syndrome (disorder) [SNOMED CT concept]
- johnson neuroectodermal syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Alopecia [HPO term]
- Anosmia [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carious teeth [HPO term]
- Choanal stenosis [HPO term]
- Cleft palate [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Decreased testicular size [HPO term]
- Facial asymmetry [HPO term]
- Facial palsy [HPO term]
- Growth delay [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypohidrosis [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Mild facial asymmetry [HPO term]
- Multiple cafe-au-lait spots [HPO term]
- Multiple truncal cafe-au-lait spots [HPO term]
- Patent ductus arteriosus [HPO term]
- Protruding ear [HPO term]
- Retrognathia [HPO term]
- Right aortic arch [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Johnson neuroectodermal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Johnson neuroectodermal syndrome [ORDO Disease]
- Johnson neuroectodermal syndrome [MeSH concept]
- Johnson neuroectodermal syndrome (disorder) [SNOMED CT concept]
- johnson neuroectodermal syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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