Rare Disease Library

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

Pelizaeus-Merzbacher disease, transitional form

Transitional PMD

Pelizaeus-Merzbacher-like disease

PMLD

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy

Pellagra

Pellagra-like skin rash-neurological manifestations syndrome

Pellucid marginal degeneration

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Ray-Peterson-Scott syndrome

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Primary effusion lymphoma

Body cavity-based lymphoma · PEL

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Connective tissue dysplasia, Spellacy type

Spellacy-Gibbs-Watts syndrome

Extrapelvic endometriosis

Endometriosis outside pelvis

Female infertility due to zona pellucida defect

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

TMEM147-related neurodevelopmental disorder

Idiopathic peliosis hepatis

Idiopathic peliosis hepatitis

Inverse Klippel-Trénaunay syndrome

Cutaneous hemangioma with muscle or bone atrophy

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome

OBSOLETE: Von Hippel anomaly

Pseudopelade of Brocq

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease