Rare Disease Library

Thoracic outlet syndrome

TOS · Thoracic outlet compression syndrome

46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY difference of sex development due to a testosterone synthesis defect

46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect

46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

Acrocraniofacial dysostosis

Kaplan-Plauchu-Fitch syndrome

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

Acrofacial dysostosis

Acrofacial dysostosis, Catania type

Opitz-Caltabiano syndrome

Acrofacial dysostosis, Kennedy-Teebi type

Kennedy-Teebi syndrome

Acrofacial dysostosis, Palagonia type

Acrofacial dysostosis, Rodríguez type

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

Acrofrontofacionasal dysostosis

Richieri-Costa-Colletto syndrome

Acrokeratosis verruciformis of Hopf

AKV of Hopf

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Aggressive systemic mastocytosis

Alacrimia-choreoathetosis-liver dysfunction syndrome

NGLY1 deficiency · NGLY1-CDDG

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

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Aniridia-ptosis-intellectual disability-familial obesity syndrome

Ankylosing vertebral hyperostosis with tylosis

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

Asbestos intoxication

Asbestosis

Ataxia-photosensitivity-short stature syndrome

Fenton-Wilkinson-Toselano syndrome

Atypical lichen myxedematosus

Intermediate lichen myxedematosus

Autosomal anomaly syndrome

Autosomal dominant ACTN2-related distal myopathy

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant Alport syndrome

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant aplastic anemia and myelodysplasia

Autosomal dominant brachyolmia

Brachyolmia type 3

Autosomal dominant centronuclear myopathy

AD-CNM

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

CMT2 due to DGAT2 mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

CMT2 due to KIF5A mutation