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genetic hypoparathyroidism (MONDO:0016165)
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inborn metal metabolism disorder (MONDO:0004689)
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inherited renal tubular disease (MONDO:0015962)
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rare renal tubular disease (MONDO:0019744)
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pseudohypoparathyroidism ()

       Child Nodes:
........expandpseudohypoparathyroidism with Albright hereditary osteodystrophy ()
........expandpseudohypoparathyroidism without Albright hereditary osteodystrophy ()



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..expandAlstrom syndrome ()
..expandcranioectodermal dysplasia ()
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..expanddominant hypophosphatemia with nephrolithiasis or osteoporosis ()
..expandEAST syndrome ()
..expandfamilial juvenile hyperuricemic nephropathy type 2 ()
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..expandhereditary renal hypouricemia ()
..expandhyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ()
..expandhypotonia-cystinuria syndrome type 1 ()
..expandidiopathic inherited hypercalciuria ()
..expandIgG4-related kidney disease ()
..expandJeune syndrome ()
..expandmitochondrial DNA depletion syndrome, hepatocerebrorenal form ()
..expandnephrogenic diabetes insipidus ()
..expandnephrogenic diabetes insipidus-intracranial calcification syndrome ()
..expandnephrogenic syndrome of inappropriate antidiuresis ()
..expandnephronophthisis (disease) ()
..expandoculocerebrorenal syndrome ()
..expandprimary renal tubular acidosis ()
..expandpseudohypoparathyroidism ()
..expandpsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ()
..expandrenal tubular transport disease ()
..expandRHYNS syndrome ()
..expandSenior-Boichis syndrome ()
..expandSenior-Loken syndrome ()
..expandtubulointerstitial nephritis and uveitis syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19992
Name:pseudohypoparathyroidism
Definition:Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).
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