Rare Disease Library

Aggressive NK-cell leukemia

ANKCL · Aggressive NK-cell lymphoma

Aggressive periodontitis

Susceptibility to localized juvenile periodontitis · AgP

Aggressive primary cutaneous B-cell lymphoma

Aggressive primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Aggressive systemic mastocytosis

Agnathia-holoprosencephaly-situs inversus syndrome

AH amyloidosis

Heavy chain amyloidosis

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Xia-Gibbs syndrome

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Aicardi syndrome

Agenesis of corpus callosum with chorioretinal abnormality

Aicardi-Goutières syndrome

Encephalopathy with basal ganglia calcification · Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

AIDS wasting syndrome

Airway infantile hemangioma

Laryngotracheal angioma

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

Al-Gazali-Dattani syndrome

Alacrimia-choreoathetosis-liver dysfunction syndrome

NGLY1 deficiency · NGLY1-CDDG

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

Alagille syndrome due to a JAG1 point mutation

Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation

Åland Islands eye disease

AIED · Forsius-Eriksson syndrome

Alar cartilages hypoplasia-coloboma-telecanthus syndrome

Alazami syndrome

Microcephalic primordial dwarfism, Alazami type

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Albright hereditary osteodystrophy

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

ALECT2 amyloidosis

Leukocyte chemotactic factor-2 amyloidosis

Alexander disease

AxD

Alexander disease type I

AxD type I

Alexander disease type II

AxD type II

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

ALK-negative anaplastic large cell lymphoma

ALK- ALCL · ALK- anaplastic large cell lymphoma

ALK-positive anaplastic large cell lymphoma

ALK+ ALCL · ALK+ anaplastic large cell lymphoma

ALK-positive large B-cell lymphoma

ALK+ LBCL · ALK+ large B-cell lymphoma

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

Alobar holoprosencephaly

Alopecia