Rare Disease Library

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

Acinar cystic transformation of the pancreas

Pancreatic acinar cystic transformation · Acinar cell cystadnoma

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

Acute ackee fruit intoxication

Acute intoxication by Blighia sapida · Jamaican vomiting sickness

Acute encephalopathy with inflammation-mediated status epilepticus

Acute myeloblastic leukemia with maturation

AML M2 · Acute myeloblastic leukemia M2

Acute myeloblastic leukemia without maturation

AML M1 · Acute myeloblastic leukemia M1

Acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia · AML

Acute myeloid leukemia with CEBPA somatic mutations

Acute myeloid leukemia · AML

Acute myeloid leukemia with minimal differentiation

Acute myeloid leukemia · AML

Acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia · AML

Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Acute myeloid leukemia · AML

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Acute myeloid leukemia · AML

Acute opioid intoxication

Acute radiation syndrome

Acute radiation sickness

Adenocarcinoma of the oesophagus and oesophagogastric junction

Adenocarcinoma of the esophagus and the gastroesophageal junction · Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction

Adenovirus infection in immunocompromised patients

Adrenocortical carcinoma with pure aldosterone hypersecretion

Pure APAC · Pure aldosterone-producing adrenocortical carcinoma

Adult-onset distal myopathy due to VCP mutation

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

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

Angelman syndrome due to a point mutation

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

Angiomatoid fibrous histiocytoma

AFH

Aniridia-renal agenesis-psychomotor retardation syndrome

Sommer-Rathbun-Battles syndrome

Anonychia with flexural pigmentation

Anorectal malformation

ARM

Anterior segment developmental anomaly with extraocular manifestations

Anterior segment developmental anomaly without extraocular manifestations

Aortic arch interruption

Aortic dilatation-joint hypermobility-arterial tortuosity syndrome

Aortic malformation

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Kosztolanyi syndrome

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

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