Tryptophanuria with dwarfism

Preferred Label : Tryptophanuria with dwarfism;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %276100;

Détails

Origin ID

276100;

UMLS CUI

C0268473;

Currated CISMeF NLP mapping
- Tryptophanuria with dwarfism (disorder) [SNOMED CT concept]
- tryptophanuria with dwarfism [SNOMED Notion]
- tryptophanuria with dwarfism [MeSH concept]
- tryptophanuria with dwarfism [MeSH Supplementary Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Conjunctival telangiectasia [HPO term]
- Cutaneous photosensitivity [HPO term]
- Dwarfism [HPO term]
- Gait disturbance [HPO term]
- Intellectual disability [HPO term]
- Severe short stature [HPO term]
- Tryptophanuria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tryptophanuria with dwarfism (disorder) [SNOMED CT concept]
- tryptophanuria with dwarfism [MeSH Supplementary Concept]
- tryptophanuria with dwarfism [SNOMED Notion]
- tryptophanuria with dwarfism [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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