Rare Disease Library

Chronic intestinal failure

CIF

Acrokeratosis verruciformis of Hopf

AKV of Hopf

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

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

Calcifying aponeurotic fibroma

Juvenile aponeurotic fibromatosis · Keasby tumor

Celiac disease-epilepsy-cerebral calcification syndrome

CEC

Combined immunodeficiency with normal Ig and poor specific antibody response

CID with normal Ig and poor specific antibody response · Combined immunodeficiency with normal immunoglobulins and poor specific antibody response

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Dendritic cell sarcoma not otherwise specified

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

Hereditary arterial and articular multiple calcification syndrome

CALJA · Calcification of joints and arteries

Hereditary site-specific ovarian cancer syndrome

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

Infantile choroidocerebral calcification syndrome

Inherited epidermodysplasia verruciformis

Lewandowsky-Lutz syndrome · Lutz-Lewandowsky epidermodysplasia verruciformis

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

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

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

Non-specific autoimmune brainstem encephalitis with characteristic antibodies

Non-specific autoimmune rhombencephalitis with characteristic antibodies · Non-specific autoimmune rhomboencephalitis with characteristic antibodies

Non-specific autoimmune brainstem encephalitis without characteristic antibodies

Non-specific autoimmune rhombencephalitis without characteristic antibodies · Non-specific autoimmune rhomboencephalitis without characteristic antibodies

Non-specific autoimmune cerebellar ataxia with characteristic antibodies

Non-specific autoimmune CA with characteristic antibodies

Non-specific autoimmune cerebellar ataxia without characteristic antibodies

Non-specific autoimmune CA without characteristic antibodies · Primary Autoimmune Cerebellar Ataxia

Non-specific autoimmune supratentorial encephalitis with characteristic antibodies

Non-specific supratentorial AE with characteristic antibodies

Non-specific autoimmune supratentorial encephalitis without characteristic antibodies

Non-specific supratentorial AE without characteristic antibodies

Non-specific early-onset epileptic encephalopathy

Non-specific EOEE · Undetermined early-onset epileptic encephalopathy

Non-specific interstitial pneumonia

NSIP · Non-specific idiopathic interstitial pneumonia

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

Non-syndromic non-specific multisutural craniosynostosis

Isolated non-specific multisutural craniosynostosis · Non-syndromic non-specific multiple suture synostosis

OBSOLETE: Langerhans cell histiocytosis specific to adulthood

OBSOLETE: Langerhans cell granulomatosis specific to adulthood · OBSOLETE: Histiocytosis X specific to adulthood

OBSOLETE: Langerhans cell histiocytosis specific to childhood

OBSOLETE: Langerhans cell granulomatosis specific to childhood · OBSOLETE: Histiocytosis X specific to childhood

Primary cutaneous peripheral T-cell lymphoma not otherwise specified

Primary cutaneous peripheral T-cell lymphoma NOS · Primary cutaneous unspecified peripheral T-cell lymphoma

Primary interstitial lung disease specific to adulthood

Primary ILD specific to adulthood

Primary interstitial lung disease specific to childhood

Primary ILD specific to childhood

Primary interstitial lung disease specific to childhood due to alveolar structure disorder

Primary ILD specific to childhood due to alveolar structure disorder

Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

Primary ILD specific to childhood due to alveolar vascular disorder

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Primary ILD specific to childhood due to pulmonary surfactant protein anomalies

Primary organ-specific lymphoma

Rare disorder with lens opacification

Rare cataract

Rare genetic disorder with lens opacification

Recurrent infections due to specific granule deficiency

Neutrophil-specific granule deficiency

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

Secondary interstitial lung disease specific to adulthood associated with a systemic disease

Secondary ILD specific to adulthood associated with a systemic disease

Secondary interstitial lung disease specific to childhood associated with a connective tissue disease

Secondary ILD specific to childhood associated with a connective tissue disease