Rare Disease Library

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Antley-Bixler syndrome

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Aortic arch defects

Aortic arch interruption

Aortic dilatation-joint hypermobility-arterial tortuosity syndrome

Aortic malformation

Aorto-left ventricular tunnel

Aorto-right ventricular tunnel

Aorto-ventricular tunnel

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

Aphalangy-syndactyly-microcephaly syndrome

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome · Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome

Aplasia cutis congenita

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Bronspiegel-Zelnick syndrome

Aplasia cutis-myopia syndrome

Gershoni-Baruch-Leibo syndrome

Aplasia of lacrimal and salivary glands

ALSG · Congenital absence of lacrimal puncta and salivary glands

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Apnea of prematurity

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Aprosencephaly

Aprosencephaly cerebellar dysgenesis

Aprosencephaly/atelencephaly spectrum

AP/AT spectum

Aquagenic palmoplantar keratoderma

Aquagenic keratoderma · Transient reactive papulotranslucent acrokeratoderma

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Kosztolanyi syndrome

Arachnodactyly-intellectual disability-dysmorphism syndrome

De Die-Smulders-Vles-Fryns syndrome

Arachnoid cyst

Arachnoiditis

Adhesive arachnoiditis · Chronic arachnoiditis

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

Argentine hemorrhagic fever

Argentinian hemorrhagic fever · Junin hemorrhagic fever

Arginine vasopressin deficiency

CDI · Neurogenic diabetes insipidus

Arginine vasopressin resistance

Nephrogenic diabetes insipidus

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Argyria

Silver staining

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

Aromatase deficiency

Congenital estrogen deficiency

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Arrhinia-choanal atresia-microphthalmia syndrome

Arterial dissection-lentiginosis syndrome

Arterial duct anomaly

Patent ductus arteriosus anomalies

Arterial thoracic outlet syndrome

ATOS · Arterial TOS