Global Variome shared LOVD

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

Phenotype #0000078482 Individual ID 00100243 Associated disease PHP1A Phenotype details short left femur;absent GH response; low estradiol; vitamin D deficiency (HP:0100512); short stature (HP:0004322); delayed growth (HP:00001510); intellectual disability (HP:0001249); normal onset puberty; round face (HP:0000311); obesity (HP:0001513); brachydactyly, type E (HP:0005863); no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 27y (27 years) Age/Diagnosis 27y Age/Onset 09y Phenotype/Onset primary hypothyroidism Protein - Owner name Arrate Pereda Database submission license No license selected Created by Arrate Pereda Date created 2017-02-09 10:28:27 +01:00 (CET) 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.