Rare Disease Library

Accessory mitral valve tissue

Accessory pancreas

Accessory tricuspid valve tissue

Adrenocortical carcinoma

ACC

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Supernumerary breasts

Accessory breasts · Polymastia

Supernumerary kidney

Accessory kidney

Supernumerary nostril

Accessory nostril

Acute flaccid myelitis

Cochleosaccular degeneration-cataract syndrome

De Sanctis-Cacchione syndrome

Xeroderma pigmentosum with neurologic manifestation

Familial cerebral saccular aneurysm

Familial berry aneurysm · Familial intracranial saccular aneurysm

Fibroneural non-saccular limited dorsal myeloschisis

Fibroneural flat limited dorsal myeloschisis · Fibroneural flat LDM

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

Hydroa vacciniforme

Hydroa vacciniforme-like lymphoma

HVLL · Angiocentric cutaneous T-cell lymphoma of childhood

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

Specific anti-polysaccharide antibody deficiency · Selective anti-polysaccharide antibody deficiency

Lipomatous non-saccular limited dorsal myeloschisis

Lipomatous flat LDM · Lipomatous non-saccular LDM

Mucopolysaccharidosis

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Mucopolysaccharidosis type 3

MPS3 · MPSIII

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Mucopolysaccharidosis type 6, rapidly progressing

Arylsulfatase B deficiency, rapidly progressing · MPS6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Arylsulfatase B deficiency, slowly progressing · MPS6, slowly progressing

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Mucopolysaccharidosis-like plus disease

Neurodegeneration with brain iron accumulation

NBIA

Non-saccular limited dorsal myeloschisis

Non-saccular LDM · Flat LDM

OBSOLETE: Congenital myopathy with protein accumulation

Oligosaccharidosis

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary immunodeficiency with post-MMR vaccine viral infection

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Saccular limited dorsal myeloschisis

Saccular LDM

Saccular spinal dysraphism with a stalk to the dome

Vaccine-induced immune thrombotic thrombocytopenia

VITT