Stargardt macular degeneration, absent or hypoplastic corpus callosum, impaired intellectual development, and dysmorphic facial features

Preferred Label : Stargardt macular degeneration, absent or hypoplastic corpus callosum, impaired intellectual development, and dysmorphic facial features;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features;

Inheritance : Autosomal recessive;

Prefixed ID : 612948;

Détails

Origin ID

612948;

UMLS CUI

C5193232;

Currated CISMeF NLP mapping
- stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad eyebrow [HPO term]
- Broad nasal tip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Dental crowding [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Large earlobe [HPO term]
- Macular degeneration [HPO term]
- Pes planus [HPO term]
- Pointed chin [HPO term]
- Poor eye contact [HPO term]
- Prominent ear lobes [HPO term]
- Sensorineural hearing impairment [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features [MeSH Supplementary Concept]
- stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features [MeSH concept]

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

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