Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus

Preferred Label : Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Stimmler syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 202900;

Details

Origin ID

202900;

UMLS CUI

C1859965;

Currated CISMeF NLP mapping
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Stimmler syndrome [ORDO Disease]
- alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [MeSH concept]
- alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [MeSH Supplementary Concept]
HPO term(s)
- Alaninuria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Dwarfism [HPO term]
- Enamel hypoplasia [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Stimmler syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Stimmler syndrome [ORDO Disease]
- alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [MeSH Supplementary Concept]
- alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [MeSH concept]

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