Rare Disease Library

Perioral myoclonia with absences

POMA

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

Chaotic conus spinal cord lipoma

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Congenital infiltrating lipomatosis of the face

CIL-F · Facial infused lipomatosis

Conus spinal cord lipoma

Dorsal spinal cord lipoma

Conus sparing spinal cord lipoma

Dysraphic spinal cord lipoma

EGF-related primary hypomagnesemia with intellectual disability

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Extramedullary conus spinal cord lipoma

Familial angiolipomatosis

Familial multiple lipomatosis

Fibrolipomatous filum anomaly

Hemihyperplasia-multiple lipomatosis syndrome

HHML

Hypomandibular faciocranial dysostosis

Hypomaturation amelogenesis imperfecta

Amelogenesis imperfecta type 2

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Amelogenesis imperfecta type 4

Intramedullary non-dysraphic spinal cord lipoma

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Isolated filum lipoma

Lipoma of the filum terminale

Isolated transitional filum lipoma

Lipomatous non-saccular limited dorsal myeloschisis

Lipomatous flat LDM · Lipomatous non-saccular LDM

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

Nasopalpebral lipoma-coloboma syndrome

OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma

OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia

OBSOLETE: Genetic primary hypomagnesemia

OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria

OBSOLETE: Genetic primary hypomagnesemia with normocalciuria

OBSOLETE: Leptomyelolipoma

OBSOLETE: Lipoma associated with neurospinal dysraphism

Posterior extramedullary conus spinal cord lipoma

PPoma

Pancreatic polypeptidoma

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

Primary hypomagnesemia with secondary hypocalcemia

HOMG1 · HSH

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Roch-Leri mesosomatous lipomatosis

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

SOLAMEN syndrome

Spinal cord lipoma

Terminal extramedullary conus spinal cord lipoma

Transitional extramedullary conus spinal cord lipoma

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera