inborn disorder of amino acid transport

Findings

No curated finding names inborn disorder of amino acid transport yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of

• inborn disorder of amino acid metabolism

Narrower terms (19)

• autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
• blue diaper syndrome
• cystinuria
• dicarboxylic aminoaciduria
• disorder of neutral amino acid transport
• episodic ataxia type 6
• foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
• Hartnup disease
• histidinuria due to a renal tubular defect
• hyperdibasic aminoaciduria type 1
• hypotonia-cystinuria syndrome
• iminoglycinuria
• juvenile nephropathic cystinosis
• lysinuric protein intolerance
• nephropathic infantile cystinosis
• ocular cystinosis
• oculocerebrorenal syndrome
• progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
• undetermined early-onset epileptic encephalopathy

Resolves to: inborn disorder of amino acid transport

Also called

inborn disorder of amino acid absorption and transport