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Pseudopseudohypoparathyroidism

Pseudopseudohypoparathyroidism (PPHP) /ˌsuː.doʊˌsuː.doʊˌhaɪ.poʊˌpær.əˌˈθaɪ.rɔɪ.dɪ.zəm/ is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy, although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction. The term is used to…

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History

Fuller Albright
1 related topics

Pathophysiology

ImprintingSpermatogenesisHaploinsufficiencyCAMP
4 related topics

Presentation

Short statureOsteoma cutis
2 related topics

Genetics

GNASKidney
2 related topics

Key facts & relationships

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Differential diagnosis
Pseudohypoparathyroidism, hypoparathyroidism, Albright's hereditary osteodystrophy
Duration
Lifetime
Specialty
Rheumatology, medical genetics, endocrinology
Treatment
Treatments to reduce symptoms, genetic counseling
Usual onset
Before birth

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Overview

Presentation

Genetics

Pathophysiology

Diagnosis

Treatment

History

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Map overview Semantic statistics

Pseudopseudohypoparathyroidism

Nodes25
Edges24
Triples20
Avg. degree1.92
Density0.08
Components1

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Pseudopseudohypoparathyroidism

Top relations

related to Pathophysiology · 8
Pseudopseudohypoparathyroidism → As, GNAS1, However, PTH, Since, The GNAS1, Tissues, When
related to Presentation · 4
Pseudopseudohypoparathyroidism → Hormone, Obesity, Osteoma, Short
related to Genetics · 3
Pseudopseudohypoparathyroidism → Any, GNAS, The
Differential diagnosis · 1
Pseudopseudohypoparathyroidism → Pseudohypoparathyroidism, hypoparathyroidism, Albright's hereditary osteodystrophy
Duration · 1
Pseudopseudohypoparathyroidism → Lifetime
Specialty · 1
Pseudopseudohypoparathyroidism → Rheumatology, medical genetics, endocrinology
Treatment · 1
Pseudopseudohypoparathyroidism → Treatments to reduce symptoms, genetic counseling
Usual onset · 1
Pseudopseudohypoparathyroidism → Before birth

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Important terminology

pseudohypoparathyroidism gene 1a hereditary osteodystrophy normal albright pth type calcium gnas diagnosis gnas1 present including symptoms may defective children resistance

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
PseudopseudohypoparathyroidismDifferential diagnosisPseudohypoparathyroidism, hypoparathyroidism, Albright's hereditary osteodystrophy1.00infobox
PseudopseudohypoparathyroidismDurationLifetime1.00infobox
PseudopseudohypoparathyroidismSpecialtyRheumatology, medical genetics, endocrinology1.00infobox
PseudopseudohypoparathyroidismTreatmentTreatments to reduce symptoms, genetic counseling1.00infobox
PseudopseudohypoparathyroidismUsual onsetBefore birth1.00infobox
Pseudopseudohypoparathyroidismrelated to GeneticsGNAS0.60section
Pseudopseudohypoparathyroidismrelated to GeneticsAny0.60section
Pseudopseudohypoparathyroidismrelated to GeneticsThe0.60section
Pseudopseudohypoparathyroidismrelated to PathophysiologyThe GNAS10.60section
Pseudopseudohypoparathyroidismrelated to PathophysiologyWhen0.60section
Pseudopseudohypoparathyroidismrelated to PathophysiologyGNAS10.60section
Pseudopseudohypoparathyroidismrelated to PathophysiologyTissues0.60section

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