Mirhosseini-holmes-walton syndrome

Preferred Label : Mirhosseini-holmes-walton syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Retinopathy, pigmentary, and impaired intellectual development; Retinopathy, pigmentary, and mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 268050;

Détails

Origin ID

268050;

UMLS CUI

C0796072;

Currated CISMeF NLP mapping
- Mirhosseini-Holmes-Walton syndrome [MeSH concept]
- Mirhosseini-Holmes-Walton syndrome [ORDO Disease]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Joint hypermobility [HPO term]
- Microcephaly [HPO term]
- Moderately short stature [HPO term]
- Myopia [HPO term]
- Narrow palm [HPO term]
- Pigmentary retinopathy [HPO term]
- Reduced visual acuity [HPO term]
- Scoliosis [HPO term]
- Truncal obesity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Mirhosseini-Holmes-Walton syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mirhosseini-Holmes-Walton syndrome [MeSH concept]
- Mirhosseini-Holmes-Walton syndrome [ORDO Disease]

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

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