Global Variome shared LOVD

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

Phenotype #0000073558 Individual ID 00074404 Associated disease HCINF2 Phenotype details diagnosis infantile hypercalcemia; ephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y02m (2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Johan den Dunnen Date created 2017-01-06 22:22:55 +01:00 (CET) Date last edited N/A

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