Rare Disease Library

Acute infantile liver failure-multisystemic involvement syndrome

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

Autosomal recessive multiple pterygium syndrome

Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Bilateral multicystic dysplastic kidney

Bilateral MCDK · Bilateral multicystic renal dysplasia

Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

CNO/CRMO

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

Cloverleaf skull-multiple congenital anomalies syndrome

Combined immunodeficiency-multiple intestinal atresia

CID-MIA/early-onset IBD

Congenital multicore myopathy with external ophthalmoplegia

Cryptogenic multifocal ulcerous stenosing enteritis

CMUSE

Disorder of multiple glycosylation

Disorder with multisystemic involvement and glomerulopathy

Disorder with multisystemic involvement and primary lymphedema

Embryonal tumor with multilayered rosettes

ETMR

Erythema multiforme major

Erythema multiforme majus · Erythema exsudativum multiforme majus

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Familial multiple discoid fibromas

Familial multiple trichodiscomas

Familial multiple fibrofolliculoma

Familial multiple lipomatosis

Familial multiple meningioma

Familial multiple nevi flammei

Familial multiple port-wine stains

Familial multiple trichoepithelioma

Focal, segmental or multifocal dystonia

Genetic lethal multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

Hemihyperplasia-multiple lipomatosis syndrome

HHML

Hereditary arterial and articular multiple calcification syndrome

CALJA · Calcification of joints and arteries

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

Idiopathic multidrug-resistant nephrotic syndrome

Infantile multisystem neurologic-endocrine-pancreatic disease

IMNEPD

Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Isolated multiple intestinal atresia

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

LAMA5-related multisystemic syndrome

Lethal multiple congenital anomalies/dysmorphic syndrome

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

Marburg acute multiple sclerosis

Acute multiple sclerosis, Marburg type · Acute multiple sclerosis, Marburg variant