Rare Disease Library

Multiple mitochondrial dysfunctions syndrome

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 4

MMDS4

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

Multiple mitochondrial dysfunctions syndrome type 6

PMPCB deficiency

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Multiple non-ossifying fibromatosis

Jaffe-Campanacci syndrome

Multiple osteochondromas

Bessel-Hagen disease · Multiple cartilaginous exostoses

Multiple paragangliomas associated with polycythemia

Multiple paragangliomas associated with erythrocytosis · Paraganglioma-somatostatinoma-polycythemia syndrome

Multiple polyglandular tumor

Multiple pterygium syndrome

Multiple pterygium syndrome, Aslan type

Multiple pterygium-malignant hyperthermia syndrome

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

Multiple sclerosis variant

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

Multiple self-healing squamous epithelioma

Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease

Multiple sulfatase deficiency

MSD · Austin disease

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Multiple system atrophy

MSA · Multisystem atrophy

Multiple system atrophy, cerebellar type

MSA, cerebellar type · MSA-c

Multiple system atrophy, parkinsonian type

MSA, parkinsonian type · MSA-p

Multisystem inflammatory syndrome in children and adults

MIS-C/A

Multisystem Langerhans cell histiocytosis

Multisystem Langerhans cell granulomatosis · Multisystem histiocytosis X

Multisystemic smooth muscle dysfunction syndrome

Arthrogryposis multiplex congenita

AMC · Multiple congenital arthrogryposis

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Combined pituitary hormone deficiencies, genetic forms

Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Cutaneous mastocytoma

Cutaneous local mastocytoma · Multiple mastocytoma

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Familial keratoacanthoma

Hereditary keratoacanthoma · Multiple keratoacanthoma

Familial ossifying fibroma

Multiple ossifying fibroma · Familial Gigantiform cementoma

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Larsen-like syndrome, B3GAT3 type

Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

Lewis-Sumner syndrome

MADSAM · Multifocal acquired demyelinating sensory and motor neuropathy

Maffucci syndrome

Multiple Enchondromatosis, Maffucci Type · Multiple Enchondromatosis type II

Muir-Torre syndrome

Multiple keratoacanthoma, Muir-Torre type

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Peritoneal inclusion cyst

Benign multicystic peritoneal mesothelioma · Multicystic mesothelioma

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

Reunion Island Larsen-like syndrome

Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome