Rare Disease Library

Intermediate uveitis

IU

Absent radius-anogenital anomalies syndrome

Antecubital pterygium syndrome

Atrial septal defect, ostium primum type

ASD, ostium primum type

Atrial septal defect, ostium secundum type

ASD, ostium secundum type

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

Autosomal recessive multiple pterygium syndrome

Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Mild calf-predominant myopathy

Chronic beryllium disease

Chronic beryllium lung disease · Berylliosis

Combined hamartoma of the retina and retinal pigment epithelium

CHR-RPE · Combined hamartoma of the retina and RPE

Congenital complete agenesis of pericardium

Congenital partial agenesis of pericardium

Congenital pericardium anomaly

Congenital pseudoarthrosis of the radius

Congenital pseudarthrosis of the radius

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Disorder of magnesium transport

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Erythema elevatum diutinum

Erythema palmare hereditarium

Lane disease · Red palms disease

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hypocalciuric hypercalcemia

FBH · FBHH

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Familial idiopathic dilatation of the right atrium

Familial pterygium of the conjunctiva

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

Hereditary sodium channelopathy-related small fibers neuropathy

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Idiopathic hypercalciuria

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

Malposition of a coronary ostium

Meconium aspiration syndrome

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Moebius syndrome

Möbius syndrome

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Multiple pterygium syndrome

Multiple pterygium syndrome, Aslan type

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

Nephrogenic syndrome of inappropriate antidiuresis

NSIAD

Neurological muscular channelopathy due to a genetic calcium channel defect

Neurological muscular channelopathy due to a genetic potassium channel defect