Spastic paraplegia, intellectual disability, nystagmus, and obesity

Preferred Label : Spastic paraplegia, intellectual disability, nystagmus, and obesity;

Symbol : SINO;

CISMeF acronym : SINO;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 220-kD kinase D-interacting substrate gene (KIDINS220, 615759.0001);

Prefixed ID : #617296;

Details

Origin ID

617296;

UMLS CUI

C4284592;

Automatic exact mappings (from CISMeF team)
- isononanoyl oxybenzene sulfonate [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) [SNOMED CT concept]
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome [ORDO Disease]
Genes related to phenotype
- Kinase D-interacting substrate, 220-kd [OMIM gene]
HPO term(s)
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Cerebral atrophy [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to stand [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Dilated third ventricle [HPO term]
- Dilation of lateral ventricles [HPO term]
- Esotropia [HPO term]
- Fetal onset [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Limb hypertonia [HPO term]
- Lower limb hypertonia [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Optic nerve dysplasia [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Plagiocephaly [HPO term]
- Polyhydramnios [HPO term]
- Prominent forehead [HPO term]
- Reduced visual acuity [HPO term]
- Short philtrum [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Strabismus [HPO term]
- Tip-toe gait [HPO term]
ORDO concept(s)
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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