Rare Disease Library

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

OBSOLETE: PEPCK1 deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency

OBSOLETE: PEPCK2 deficiency

Odontohypophosphatasia

Perinatal lethal hypophosphatasia

Perinatal lethal phosphoethanolaminuria · Perinatal lethal Rathbun disease

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Phosphoribosylpyrophosphate synthetase superactivity

PRPP synthetase superactivity · PRPS1 superactivity

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome

PHID

Postpartum psychosis

Puerperal psychosis

Postural orthostatic tachycardia syndrome due to NET deficiency

Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Prenatal benign hypophosphatasia

Prenatal benign phosphoethanolaminuria · Prenatal benign Rathbun disease

Primary orthostatic disorder

Primary orthostatic hypotension

Primary orthostatic tremor

POT

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Rare disorder with hypertrichosis

Rare genetic parathyroid disease and phosphocalcic metabolism disorder

Rare parathyroid disease and phosphocalcic metabolism anomaly

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

SADDAN

Severe phosphoribosylpyrophosphate synthetase superactivity

Severe PRPP synthetase superactivity · Severe PRPS1 superactivity

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Sporotrichosis

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Syndromic sensorineural hearing loss due to COXPD · Syndromic sensorineural deafness due to COXPD

Thost-Unna palmoplantar keratoderma

Triose phosphate-isomerase deficiency

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

X-linked congenital generalized hypertrichosis

Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

X-linked hypophosphatemia

X-linked hypophosphatemic rickets · XLH

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X