Rare Disease Library

Neuronal ceroid lipofuscinosis

NCL · NCL disease

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

Northern epilepsy

Progressive epilepsy-intellectual disability syndrome, Finnish type · CLN8 disease, Northern epilepsy variant

Chronic myeloproliferative disease, unclassifiable

CMPD-U · Undifferentiated myeloproliferative disease

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

Familial encephalopathy with neuroserpin inclusion bodies

FENIB

Hereditary inclusion body myopathy type 4

HIBM4

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

Inclusion body myositis

IBM · Sporadic inclusion body myositis

Inclusion myopathy

Microvillus inclusion disease

Congenital microvillous atrophy · Congenital microvillus atrophy

Neuronal intranuclear inclusion disease

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia

OBSOLETE: Unclassified familial retinal dystrophy

OBSOLETE: Unclassified glomerulonephritis

OBSOLETE: Unclassified metaphyseal chondrodysplasia

OBSOLETE: Unclassified overlapping connective tissue disease

OBSOLETE: Unclassified primitive or secondary maculopathy

OBSOLETE: Unclassified spondylometaphyseal dysplasia

Peritoneal inclusion cyst

Benign multicystic peritoneal mesothelioma · Multicystic mesothelioma

Progressive dementia with neuroserpin inclusion bodies

Late-onset familial encephalopathy with neuroserpin inclusion bodies

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

Early onset familial encephalopathy with neuroserpin inclusion bodies

Pulmonary hypertension with unclear multifactorial mechanism

PH with unclear multifactorial mechanism

Unclassified acute myeloid leukemia

Acute myeloid leukemia · AML

Unclassified autoinflammatory syndrome

Unclassified autoinflammatory syndrome of childhood

Unclassified cardiomyopathy

Unclassified genetic skin disorder

Unclassified intestinal pseudoobstruction

Unclassified myelodysplastic syndrome

MDS · Myelodysplastic syndromes

Unclassified myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

Unclassified vasculitis