Hyperekplexia 3

Preferred Label : Hyperekplexia 3;

Symbol : HKPX3;

CISMeF acronym : HKPX3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the presynaptic glycine transporter-2 gene (SLC6A5, 604159.0001);

Prefixed ID : #614618;

Details

Origin ID

614618;

UMLS CUI

C3553288;

Currated CISMeF NLP mapping
- hyperekplexia 3 [DO Concept]
DO Cross reference
- hyperekplexia 3 [DO Concept]
Genes related to phenotype
- Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Exaggerated startle response [HPO term]
- Hypertonia [HPO term]
- Infantile onset [HPO term]
- Muscle stiffness [HPO term]
ORDO concept(s)
- Hereditary hyperekplexia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperekplexia 3 [DO Concept]

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