Rare Disease Library

Congenital tufting enteropathy

Intestinal epithelial dysplasia · IED

Bardet-Biedl syndrome

BBS

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Beckwith-Wiedemann syndrome due to 11p15 microduplication

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat

Dendritic cell sarcoma not otherwise specified

Fried syndrome

Fried's tooth and nail syndrome

Friedreich ataxia

FA · FRDA

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome

DYNC1I2-related neurodevelopmental disorder

OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome

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

Primary cutaneous peripheral T-cell lymphoma not otherwise specified

Primary cutaneous peripheral T-cell lymphoma NOS · Primary cutaneous unspecified peripheral T-cell lymphoma

Retinal ciliopathy due to mutation in Bardet-Biedl gene

Schinzel-Giedion syndrome

SGS

Sickle cell S-other specified hemoglobin variant

HbS-other specified hemoglobin variant disease

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

Theca steroid-producing cell malignant tumor of ovary, not further specified

Theca (steroid-producing) cell cancer, not further specified

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

Unspecified juvenile idiopathic arthritis

Unspecified JIA

Unspecified mitochondrial disorder

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome