Rare Disease Library

Primary tuberculosis of the digestive system

Primary tuberculous lymphadenitis

Primary tuberculous lymphadenopathy

Primary unilateral adrenal hyperplasia

PUAH

Primary vitreoretinal large B-cell lymphoma

PVLR · PVR-LBCL

Primitive neuroectodermal tumor of the cervix uteri

Malignant peripheral neuroectodermal tumor of the cervix uteri · Cervical malignant peripheral neuroectodermal tumor

Primitive neuroectodermal tumor of the corpus uteri

Malignant peripheral neuroectodermal tumor of the corpus uteri · Peripheral neuroectodermal cancer of the corpus uteri

Primordial short stature-microdontia-opalescent and rootless teeth syndrome

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Proboscis lateralis

Congenital tubular nose

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

Progeroid and marfanoid aspect-lipodystrophy syndrome

Progeroid features-hepatocellular carcinoma predisposition syndrome

HCC · Hepatocellular carcinoma

Progeroid syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Progressive bifocal chorioretinal atrophy

CRAPB · PBCRA

Progressive bulbar paralysis of childhood

Fazio-Londe disease · Progressive bulbar palsy of childhood

Progressive cavitating leukoencephalopathy

Progressive cerebello-cerebral atrophy

PCCA

Progressive cone dystrophy

Cone dystrophy

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

Progressive dementia with neuroserpin inclusion bodies

Late-onset familial encephalopathy with neuroserpin inclusion bodies

Progressive encephalomyelitis with rigidity and myoclonus

PERM

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Progressive familial intrahepatic cholestasis

PFIC

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

Progressive familial intrahepatic cholestasis type 3

PFIC3

Progressive familial intrahepatic cholestasis type 4

TJP2 deficit · PFIC4

Progressive familial intrahepatic cholestasis type 5

NR1H4 deficiency · PFIC5

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

Progressive muscular atrophy

PMA

Progressive muscular dystrophy

Progressive myoclonic epilepsy

PME · Progressive myoclonus epilepsy

Progressive myoclonic epilepsy type 1

Unverricht-Lundborg disease · EPM1

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Progressive myoclonic epilepsy type 5

EPM5 · PME type 5

Progressive myoclonic epilepsy type 6

EPM6 · GOSR2-related progressive myoclonus ataxia

Progressive myoclonic epilepsy type 7

EPM7 · MEAK

Progressive myoclonic epilepsy type 8

EPM8 · PME type 8

Progressive myoclonic epilepsy type 9

EPM9 · PME type 9