Verloes syndrome

Preferred Label : Verloes syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Male pseudohermaphroditism/mental retardation syndrome, verloes type;

Inheritance : Autosomal recessive;

Prefixed ID : 600122;

Details

Origin ID

600122;

UMLS CUI

C1838611;

Currated CISMeF NLP mapping
- Disorder of sex development-intellectual disability syndrome [ORDO Disease]
- Male pseudohermaphroditism-mental retardation syndrome, Verloes type [MeSH concept]
- Male pseudohermaphroditism-mental retardation syndrome, Verloes type [MeSH Supplementary Concept]
- Verloes Gillerot Fryns syndrome [MeSH concept]
- verloes gillerot fryns syndrome [MeSH Supplementary Concept]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral microphthalmos [HPO term]
- Cervical spina bifida [HPO term]
- Chorioretinal coloboma [HPO term]
- Coarse facial features [HPO term]
- Deeply set eye [HPO term]
- Growth delay [HPO term]
- Intellectual disability [HPO term]
- Low posterior hairline [HPO term]
- Male pseudohermaphroditism [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Postnatal growth retardation [HPO term]
- Severe sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
ORDO concept(s)
- Disorder of sex development-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Male pseudohermaphroditism-mental retardation syndrome, Verloes type [MeSH Supplementary Concept]
- Male pseudohermaphroditism-mental retardation syndrome, Verloes type [MeSH concept]

Keyword's position in hierarchy(ies) :

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