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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia 
adrenomyeloneuropathy 
adult polyglucosan body disease 
attenuated Chédiak-Higashi syndrome 
beta-mannosidosis 
biotinidase deficiency 
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
carpal tunnel syndrome +   
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 
cerebral creatine deficiency syndrome +  
cerebrotendinous xanthomatosis 
Charcot-Marie-Tooth disease +  
Charcot-Marie-Tooth disease type 5 
Chediak-Higashi syndrome 
chorea-acanthocytosis 
coenzyme Q10 deficiency +  
congenital trigeminal anesthesia 
distal hereditary motor neuropathy +  
EMILIN-1-related connective tissue disease 
episodic ataxia type 1 
familial amyloid neuropathy +  
familial episodic pain syndrome +  
familial isolated deficiency of vitamin E 
familial recurrent peripheral facial palsy 
Finnish type amyloidosis 
folinic acid-responsive seizures 
fumaric aciduria 
giant axonal neuropathy +  
GLUT1 deficiency syndrome +  
hereditary motor and sensory neuropathy +  
hereditary motor and sensory neuropathy, Okinawa type +  
hereditary neuropathy with liability to pressure palsies 
hereditary sensory and autonomic neuropathy +  
hereditary sensory and autonomic neuropathy with spastic paraplegia 
holocarboxylase synthetase deficiency 
homocystinuria due to methylene tetrahydrofolate reductase deficiency 
infantile axonal neuropathy 
Kearns-Sayre syndrome 
Krabbe disease +  
Leigh syndrome +  
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 
MERRF syndrome 
metachromatic leukodystrophy +  
methylmalonic aciduria and homocystinuria type cblC 
mitochondrial DNA depletion syndrome 4a 
mitochondrial neurogastrointestinal encephalomyopathy 
NARP syndrome 
neurodegeneration with brain iron accumulation 2A 
neuropathy with hearing impairment 
neuropathy, congenital hypomelinating +  
neuropathy, hereditary sensory and autonomic, type IId 
Niemann-Pick disease type B 
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
ornithine aminotransferase deficiency 
oxoglutaricaciduria 
peroxisomal disease +  
peroxisome biogenesis disorder +  
PHARC syndrome 
primary CD59 deficiency 
progressive demyelinating neuropathy with bilateral striatal necrosis 
proximal spinal muscular atrophy +  
PRPS1 deficiency disorder 
pyridoxal phosphate-responsive seizures 
pyridoxine-dependent epilepsy +  
pyruvate dehydrogenase deficiency +  
Sandhoff disease +  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +  
sodium channelopathy-related small fiber neuropathy 
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 
Tay-Sachs disease +  

Synonyms
Exact Synonyms: BTD deficiency ;   deficiency of biotinidase
Related Synonyms: biotin deficiency ;   late-onset biotin-responsive multiple carboxylase deficiency ;   multiple carboxylase deficiency, juvenile-onset ;   multiple carboxylase deficiency, late-onset
Alternate IDs: MONDO:0009665
Xrefs: DOID:856 ;   GARD:894 ;   ICD10CM:D81.810 ;   ICD9:277.6 ;   MEDGEN:66323 ;   MESH:D028921 ;   MIM:253260 ;   MedDRA:10071434 ;   NANDO:1200822 ;   NCI:C84598 ;   NORD:857 ;   ORDO:79241 ;   SCTID:8808004 ;   UMLS:C0220754
Definition Sources: Orphanet:79241

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