Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Pentalogy of Cantrell

Also known as: Cantrell deformity Cantrell pentalogy Cantrell syndrome

NORD Rare Disease Report
PEPCK Deficiency

Also known as: phosphoenolpyruvate carboxykinase deficiency

* También disponible en español

NORD Rare Disease Report
Perniosis

Also known as: chilblains cold induced vascular disease erythema, pernio pernio

NORD Rare Disease Report
Perrault Syndrome

Also known as: gonadal dysgenesis, XX type, with deafness ovarian dysgenesis with sensorineural deafness gonadal dysgenesis, XX type

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NORD Rare Disease Report
Pertussis

Also known as: Whooping Cough

NORD Rare Disease Report
Peutz Jeghers Syndrome

Also known as: PJS polyposis, hamartomatous intestinal polyps and spots syndrome

NORD Rare Disease Report
Pfeiffer Syndrome

Also known as: acrocephalosyndactyly, type V ACSV craniofacial-skeletal-dermatologic syndrome Noack syndrome

NORD Rare Disease Report
PHACE Syndrome

Also known as: Pascual-Castroviejo type II syndrome PHACE association PHACES association PHACES syndrome

NORD Rare Disease Report
Phelan-McDermid Syndrome

Also known as: 22q13 deletion syndrome ring Chromosome 22 SHANK3 pathogenic variant PMS

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NORD Rare Disease Report
Phenylketonuria

Also known as: classical phenylketonuria hyperphenylalanemia severe phenylalanine hydroxylase (PAH) deficiency phenylalaninemia PKU

NORD Rare Disease Report
Pheochromocytoma/Paraganglioma

Also known as: adrenal paraganglioma chromaffin cell tumor adrenal gland chromaffin paraganglioma adrenal gland paraganglioma intraadrenal paraganglioma chromaffin paraganglioma of the adrenal gland adrenal gland pheochromocytoma glomus tumors extra-adrenal paraganglioma extra-adrenal pheochromocytoma

NORD Rare Disease Report
Phosphoglycerate Kinase Deficiency

Also known as: anemia, hemolytic with PGK deficiency erythrocyte phosphoglycerate kinase deficiency PGK phosphoglycerokinase

NORD Rare Disease Report
Pierre Robin Sequence

Also known as: glossoptosis, micrognathia, and cleft palate PRS Robin syndrome

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