Rare Disease Library

Alopecia antibody deficiency

Ipp-Gelfand syndrome

Alopecia totalis

Alopecia universalis

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Shokeir syndrome

Alopecia-hypogonadism-extrapyramidal syndrome

Devriendt-Legius-Fryns syndrome

Alopecia-intellectual disability syndrome

Perniola-Krajewska-Carnevale syndrome

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy · Alpers syndrome

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

Alpha-heavy chain disease

Alpha-HCD · IPSID

Alpha-mannosidosis

Lysosomal alpha-D-mannosidase deficiency

Alpha-mannosidosis, adult form

Lysosomal alpha-D-mannosidase deficiency, adult form

Alpha-mannosidosis, infantile form

Lysosomal alpha-D-mannosidase deficiency, infantile form

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

Alpha-thalassemia and related disorders

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

ALPI-related inflammatory bowel disease

Alport syndrome

Alport hearing loss-nephropathy · Alport deafness-nephropathy

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Alström syndrome

Alternating hemiplegia

Alternating hemiplegia of childhood

AHC

Alveolar echinococcosis

Echinococcus multilocularis infection

Alveolar rhabdomyosarcoma

Alveolar soft tissue sarcoma

Alveolar soft part sarcoma · ASPS

Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome

ALys amyloidosis

Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant

Amaurosis-hypertrichosis syndrome

Amelo-onycho-hypohidrotic syndrome

Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome

Ameloblastic carcinoma

Ameloblastoma

Amelocerebrohypohidrotic syndrome

Epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschütter-Tönz syndrome

Amelogenesis imperfecta

Amelogenesis imperfecta-gingival hyperplasia syndrome

American trypanosomiasis

Chagas disease

Amino acid or protein metabolism disease with epilepsy

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

Aminopterin/methotrexate embryofetopathy

Aminopterin embryopathy syndrome · Fetal aminopterin syndrome