Rare Disease Library

Intermediate severe Salla disease

Intermediate uveitis

IU

Intermittent hydrarthrosis

Intermittent maple syrup urine disease

Intermittent BCKD deficiency · Intermittent MSUD

Intermittent neutropenia

Internal carotid absence

Interstitial cystitis

Bladder pain syndrome · Painful bladder syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Interstitial lung disease

ILD

Interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency

Interstitial lung disease due to SP-C deficiency

Interstitial lung disease due to surfactant protein C deficiency

Interstitial lung disease in childhood and adulthood

ILD in childhood and adulthood

Interstitial lung disease specific to adulthood

ILD specific to adulthood

Interstitial lung disease specific to childhood

ILD specific to childhood

Interstitial lung disease specific to infancy

ILD specific to infancy

Interstitial lung disease-brain calcification syndrome

Interstitial lung disease-brain calcification syndrome, Rajab type · Developmental delay-brain calcification-interstitial lung disease syndrome

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ILNEB syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome

Interventricular septum aneurysm

Intestinal botulism

Intestinal colonization botulism · Intestinal toxemia botulism

Intestinal disease due to fat malabsorption

Intestinal disease due to vitamin absorption anomaly

Intestinal lymphangiectasia

Intestinal malformation

Malformation of the intestine

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

Meconium ileus due to guanylate cyclase 2C deficiency

Intestinal polyposis syndrome

Intractable diarrhea of infancy

IDI

Intractable diarrhea-choanal atresia-eye anomalies syndrome

Intraductal papillary mucinous carcinoma of pancreas

Pancreatic intraductal papillary mucinous carcinoma · IPMN

Intrahepatic cholestasis of pregnancy

Gravidic intrahepatic cholestasis · Pregnancy-related cholestasis

Intralobar congenital pulmonary sequestration

Congenital intrapulmonary sequestration · Intralobar congenital bronchopulmonary sequestration

Intramedullary non-dysraphic spinal cord lipoma

Intramuscular fast-flow vascular anomaly

Intraneural perineurioma

Intraocular medulloepithelioma

Orbital medulloepithelioma

Intraoral basal cell carcinoma

IOBCC intramucosal basal cell carcinoma · Basal cell carcinoma of the buccal mucosa

Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

Intravascular large B-cell lymphoma

Angioendotheliomatosis proliferans systemisata · Angiotropic large cell lymphoma

Intravascular papillary endothelial hyperplasia

IPEH · Vegetant intravascular hemangioendothelioma

Invasive candidiasis

Systemic candidiasis · Disseminated candidiasis

Invasive infections due to vancomycin-resistant enterococci

Invasive infections due to VRE

Invasive mole

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Invasive scopulariopsis infection

Inverse Klippel-Trénaunay syndrome

Cutaneous hemangioma with muscle or bone atrophy

Inverse Marcus-Gunn phenomenon

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome