Skeletal defects, genital hypoplasia, and impaired intellectual development

Preferred Label : Skeletal defects, genital hypoplasia, and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Skeletal defects, genital hypoplasia, and mental retardation;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger- and BTB domain-containing protein 16 gene (ZBTB16, 176797.0001);

Prefixed ID : 612447;

Details

Origin ID

612447;

UMLS CUI

C2676231;

Currated CISMeF NLP mapping
- skeletal defects, genital hypoplasia, and mental retardation [MeSH concept]
- skeletal defects, genital hypoplasia, and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Absent thumb [HPO term]
- Aplasia/Hypoplasia of the radius [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Fibular hypoplasia [HPO term]
- Hypoplasia of the ulna [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Narrow mouth [HPO term]
- Radial aplasia/hypoplasia [HPO term]
- Short femur [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Strabismus [HPO term]
- Supernumerary ribs [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- skeletal defects, genital hypoplasia, and mental retardation [MeSH Supplementary Concept]
- skeletal defects, genital hypoplasia, and mental retardation [MeSH concept]

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