Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000258198 Individual ID 00362828 Associated disease NPA Phenotype details HP:0002240 Hepatomegaly HP:0001744 Splenomegaly HP:0001263 Global developmental delay Diagnosis/Initial niemann-pick typeA Inheritance Familial, autosomal recessive Diagnosis/Definite niemann-pick typeA Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Rezvan Abtahi Database submission license No license selected Created by Rezvan Abtahi Date created 2021-04-23 17:01:51 +02:00 (CEST) Date last edited 2021-04-26 19:14:12 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.