Rare Disease Library

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

Acute lymphoblastic leukemia

ALL · Acute lymphoblastic leukemia/lymphoma

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Alloimmune neonatal renal disease · FMAIG

Sex-chromosome anomaly syndrome

Allosome anomaly

Sex-chromosome number anomaly syndrome

Allosome number anomaly

Sex-chromosome structural anomaly syndrome

Allosome structural anomaly

Triple A syndrome

2A syndrome · 3A syndrome

Acrocallosal syndrome

ACS

Acrodermatitis continua of Hallopeau

Adenocarcinoma of the gallbladder and extrahepatic biliary tract

Adenocarcinoma of the gallbladder and EBT

Adenocarcinoma of the small intestine

Adenocarcinoma of the small bowel

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

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

Astley-Kendall dysplasia

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Baller-Gerold syndrome

Benign tumor of fallopian tubes

Bietti crystalline dystrophy

BCD · Bietti crystalline corneoretinal dystrophy

Bilateral striopallidodentate calcinosis

BSPDC · Cerebrovascular ferrocalcinosis

Brachydactyly-preaxial hallux varus syndrome

Brachytelephalangy-dysmorphism-Kallmann syndrome

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-deafness syndrome · CATSHL syndrome

Carcinoma of gallbladder and extrahepatic biliary tract

Carcinoma of gallbladder and EBT

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

COL4A1 or COL4A2-related cerebral small vessel disease

COL4A1 or COL4A2-related cerebral angiopathy

COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency

COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency

Complete atrioventricular septal defect-tetralogy of Fallot

CAVC-tetralogy of Fallot · Complete atrioventricular canal defect-tetralogy of Fallot

Congenital autosomal recessive small-platelet thrombocytopenia

CARST

Congenital prekallikrein deficiency

Congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great vessels · Discordant ventriculoarterial and atrioventricular connections

Congenitally short costocoracoid ligament

Congenitally uncorrected transposition of the great arteries

Transposition of the great vessels · Discordant ventriculoarterial connections

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation

Congenitally uncorrected transposition of the great arteries with coarctation

Congenitally uncorrected transposition of the great vessels with coarctation · TGA with coarctation

Coralliform cataract

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Corpus callosum dysgenesis-hypopituitarism syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Cutaneous small vessel vasculitis

Cutaneous hypersensitivity vasculitis

Deafness-small bowel diverticulosis-neuropathy syndrome

Hearing loss-small bowel diverticulosis-neuropathy syndrome · Groll-Hirschowitz syndrome

Dentatorubral pallidoluysian atrophy

DRPLA · Dentatorubropallidoluysian atrophy

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy