Lichtenstein-knorr syndrome

Preferred Label : Lichtenstein-knorr syndrome;

Symbol : LIKNS;

CISMeF acronym : LIKNS; SCAR19;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia, autosomal recessive 19; SCAR19;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 9, member 1 gene (SLC9A1, 107310.0001);

Prefixed ID : #616291;

Details

Origin ID

616291;

UMLS CUI

C4225383;

Currated CISMeF NLP mapping
- Progressive autosomal recessive ataxia-deafness syndrome [ORDO Disease]
- Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 19 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 19 [DO Concept]
Genes related to phenotype
- Solute carrier family 9, member 1 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Limb ataxia [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Progressive autosomal recessive ataxia-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive autosomal recessive ataxia-deafness syndrome [ORDO Disease]
- Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]

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