ORPHA:79219

Metabolic disease involving other neurotransmitter deficiency

Type: Category
Group: Group of disorders
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Metabolic disease involving other neurotransmitter deficiency
fr	Maladie métabolique due à un déficit d'un autre neurotransmetteur
de	Neurotransmitterstörung, sonstige
es	Otro defecto de los neurotransmisores
it	Difetto dei neurotrasmettitori, raro
nl	Stofwisselingsziekte waarbij een andere neurotransmitterdeficiëntie betrokken is
pt	Deficiência de neurotransmissor, outra
pl	Choroba metaboliczna obejmująca Niedobór innych neurotransmiterów
cs	Metabolická onemocnění zahrnující ostatní deficity neurotransmiterů
uk	Метаболічні захворювання, повязані з дефіцитом інших нейромедіаторів
zh	代谢疾病伴其他神经递质缺乏
tr	Diğer nörotransmiter eksikliğini içeren metabolik hastalık

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0019253	E	validated
MONDO	19253	E	validated
UMLS	C5681275	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (2):

ORPHA:79214Disorder of biogenic amine metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
ORPHA:225707Metabolic neurotransmission anomaly with epilepsy
rare genetic diseases; rare neurological diseases

Children (3):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/79219
This record as JSON: /data/d/79219.json