Rare Disease Library

AA amyloidosis

Inflammatory amyloidosis · Reactive amyloidosis

AApoAI amyloidosis

Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant

AApoAII amyloidosis

Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant

AApoAIV amyloidosis

Apolipoprotein A-IV amyloidosis

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Adenoid ameloblastoma

AA

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

Acquired angioedema type 2

AAE 2 · AAE II

Acute annular outer retinopathy

AAOR

Anomalous aortic origin of coronary artery

AAOCA

Anti-neutrophil cytoplasmic antibody-associated vasculitis

AAV · ANCA-associated vasculitis

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Arthrogryposis-anterior horn cell disease syndrome

AAHD · Vuopala disease

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Cholestasis-lymphedema syndrome

Aagenaes syndrome

Triple A syndrome

2A syndrome · 3A syndrome

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

Frank-Ter Haar syndrome

Ter Haar syndrome

Helsmoortel-Van der Aa syndrome

ADNP-related syndromic intellectual disability-autism spectrum disorder · ADNP-related Helsmoortel-Van der Aa syndrome

Hoyeraal-Hreidarsson syndrome

Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Alkuraya-Kucinskas syndrome

Marbach-Schaaf neurodevelopmental syndrome

Global developmental delay-hypotonia-high pain tolerance syndrome · MASNS

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Neurologic Waardenburg-Shah syndrome · PCWH

PLAA-associated neurodevelopmental disorder

PLAAND

Schaaf-Yang syndrome

SYS

Stormorken-Sjaastad-Langslet syndrome

Thrombocytopathy-asplenia-miosis syndrome · Stormorken syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Waardenburg syndrome

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

X-linked intellectual disability, Sutherland-Haan type