Global Variome shared LOVD

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

Phenotype #0000104131 Individual ID 00131912 Associated disease PHP1A Phenotype details Pseudohypoparathyroidism (HP:0000852), hypothyroidism (HP:0000821), subcutaneous calcification (HP:0007618); short stature (HP:0004322); no intellectual disability (-HP:0001249); round face (HP:0000311); brachydactyly (HP:000156); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis 04y Age/Onset - Phenotype/Onset - Protein - Owner name Nicolas Richard Database submission license Creative Commons Attribution 4.0 International Created by Nicolas Richard Date created 2017-09-29 14:21:10 +02:00 (CEST) Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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