Rare Disease Library

Neurological muscular channelopathy due to a genetic sodium channel defect

OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect

OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect

OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect

OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect

OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect

OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect

OBSOLETE: Channelopathy due to an epithelial sodium channel defect

OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect

OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia

OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria

OBSOLETE: Genetic primary hypomagnesemia with normocalciuria

OBSOLETE: Holoacardius amorphus

OBSOLETE: Mycobacterium xenopi infection

Persistent left superior vena cava connecting through coronary sinus to left-sided atrium

Persistent left SVC connecting through coronary sinus to left-sided atrium

Persistent left superior vena cava connecting to the roof of left-sided atrium

Persistent left SVC connecting to the roof of left-sided atrium · Persistent left SVC connecting to left-sided atrium

Popliteal pterygium syndrome

Potassium-aggravated myotonia

K+-aggravated myotonia · K-aggravated myotonia

Predominantly medium-vessel vasculitis

Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

Pterygium colli-intellectual disability-digital anomalies syndrome

Khalifa-Graham syndrome

Rare disorder related with pregnancy, childbirth and puerperium

Reticular dystrophy of the retinal pigment epithelium

Right inferior vena cava connecting to left-sided atrium

Right IVC connecting to left-sided atrium · Right inferior caval vein connecting to left-sided atrium

Right superior vena cava connecting to left-sided atrium

Right SVC connecting to left-sided atrium · Right superior caval vein connecting to left-sided atrium

Sodium-dependent multivitamin transporter deficiency

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

Thrombocytopenia-absent radius syndrome

TAR syndrome

X-linked intellectual disability, Siderius type

X-linked lethal multiple pterygium syndrome

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu