Rare Disease Library

Oculocutaneous albinism

OCA

Minimal pigment oculocutaneous albinism type 1

MP OCA type 1 · OCA1-MP

Oculocutaneous albinism type 1

OCA1

Oculocutaneous albinism type 1A

OCA1A · Tyrosinase-negative oculocutaneous albinism

Oculocutaneous albinism type 1B

OCA1B · Oculocutaneous albinism, Amish type

Oculocutaneous albinism type 2

OCA2

Oculocutaneous albinism type 3

OCA3 · Red oculocutaneous albinism

Oculocutaneous albinism type 4

OCA4

Oculocutaneous albinism type 5

OCA5

Oculocutaneous albinism type 6

OCA6

Oculocutaneous albinism type 7

OCA7

Oculocutaneous albinism type 8

OCA8

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

Acrocallosal syndrome

ACS

Acrocapitofemoral dysplasia

Acrocardiofacial syndrome

ACFS · CCGE syndrome

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

Adenocarcinoma of ovary

Ovarian adenocarcinoma

Adenocarcinoma of the anal canal

Adenocarcinoma of the cervix uteri

Cervical adenocarcinoma

Adenocarcinoma of the gallbladder and extrahepatic biliary tract

Adenocarcinoma of the gallbladder and EBT

Adenocarcinoma of the liver and intrahepatic biliary tract

Adenocarcinoma of the liver and IBT

Adenocarcinoma of the oesophagus and oesophagogastric junction

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

Adenocarcinoma of the penis

Penile adenocarcinoma

Adenocarcinoma of the small intestine

Adenocarcinoma of the small bowel

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

Autosomal dominant hypocalcemia

AD hypocalcemia

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

Bartter syndrome with hypocalcemia

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Benign focal seizures of adolescence

Adolescent benign focal crisis

Benign infantile focal epilepsy with midline spikes and waves during sleep

BIMSE

Biliary cystadenocarcinoma

Intrahepatic bile duct cystadenocarcinoma

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Carney complex-trismus-pseudocamptodactyly syndrome

Carney complex variant

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Cholangiocarcinoma

Bile duct cancer · CCA

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Choriocarcinoma of the central nervous system

Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

CNO/CRMO

Clear cell adenocarcinoma of the ovary

Ovarian clear cell adenocarcinoma

Cocaine embryofetopathy

Fetal cocaine syndrome

Cocaine intoxication

Combined hepatocellular carcinoma and cholangiocarcinoma

cHCC-CC · Combined HCC-CC

Congenital elbow dislocation, bilateral