SMPD2 and Niemann-Pick Disease, Type A: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

SMPD2

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Niemann-Pick Disease, Type A

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Phenotype

37 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Provenance

6 references

Every source and publication cited across this dossier, as one numbered reference list.