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

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

MeSH synonym : stimmler syndrome;

Origin ID

C565968;

UMLS CUI

C1859965;

Currated CISMeF NLP mapping
- Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [OMIM Phenotype]
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Stimmler syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- dental enamel hypoplasia [MeSH Descriptor]
- diabetes mellitus [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [OMIM Phenotype]
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Stimmler syndrome [ORDO Disease]