Rare Disease Library

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Phosphoribosylpyrophosphate synthetase superactivity

PRPP synthetase superactivity · PRPS1 superactivity

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

Photosensitive occipital lobe epilepsy

POLE

Phyllodes tumor of the breast

Phyllodes tumor of the prostate

Cystosarcoma phyllodes of the prostate · Phyllodes type of atypical prostatic hyperplasia

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

Piebald trait-neurologic defects syndrome

Telfer-Sugar-Jaeger syndrome

Piebaldism

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Pierpont syndrome

Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome

Pierre Robin syndrome associated with a chromosomal anomaly

Pierre Robin sequence associated with a chromosomal anomaly

Pierre Robin syndrome associated with bone disease

Pierre Robin sequence associated with bone disease

Pierre Robin syndrome associated with branchial archs anomalies

Pierre Robin sequence associated with branchial archs anomalies

Pierre Robin syndrome associated with collagen disease

Pierre Robin sequence associated with collagen disease

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

PIEZO1-related LRHF/GLD · PIEZO1-related generalized lymphatic dysplasia with systemic involvement

Pigmentation anomaly of the skin

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome

PHID

Pigmented paravenous retinochoroidal atrophy

PPRCA

PIK3CA-related overgrowth syndrome

PROS

Pili bifurcati

Pili gemini

Pili multigemini

Pili torti

Twisted hair

Pili torti-developmental delay-neurological abnormalities syndrome

Pili torti-onychodysplasia syndrome

Pilocytic astrocytoma

Pilocytic astrocytoma with histological features of anaplasia

Anaplastic pilocytic astrocytoma

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

Pilomatrix carcinoma

Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma

Pilomatrixoma

Epithelioma calcificans of Malherbe · Pilomatricoma

Pilomyxoid astrocytoma

Pineal parenchymal tumor of intermediate differentiation

Pineal tumor of neuroepithelial tissue

Pineoblastoma

Pineocytoma

Pinnae and external auditory canal anomaly

Pinnae fistula or cyst

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Pipecolic acidemia

Hyperpipecolatemia

Pitt-Hopkins syndrome

Pitt-Rogers-Danks syndrome

Intellectual disability-dysmorphism-intrauterine growth retardation syndrome

Pituicytoma

Pituitary adenoma

Pituitary apoplexy

Pituitary tumor apoplexy

Pituitary carcinoma