Rare Disease Library

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

Moderate multiminicore disease with hand involvement

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

MEB disease with bilateral multicystic leucodystrophy

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYBPC1-related autosomal recessive non-lethal AMC syndrome

Neurodegeneration with brain iron accumulation

NBIA

Neurogenic arthrogryposis multiplex congenita

Non-syndromic multisutural craniosynostosis

Isolated multisutural craniosynostosis · Non-syndromic multiple suture synostosis

Non-syndromic non-specific multisutural craniosynostosis

Isolated non-specific multisutural craniosynostosis · Non-syndromic non-specific multiple suture synostosis

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

OBSOLETE: Acrodysostosis with multiple hormone resistance

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

OBSOLETE: Congenital myopathy with protein accumulation

OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: Genetic MCA/variable MR · OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome

OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome

OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: MCA/variable MR · OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

OBSOLETE: Multiple fibroadenoma of the breast

OBSOLETE: Mammary polyadenomatosis

OBSOLETE: Multiple ventricular septal defects

Ovarian hyperstimulation syndrome

OHSS

Pediatric multiple sclerosis

Primary bone dysplasia with multiple joint dislocations

Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

Pulmonary hypertension with unclear multifactorial mechanism

PH with unclear multifactorial mechanism

Rare disorder involving multiple structures of the eye

Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism

Rare genetic disorder involving multiple structures of the eye

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

IDMDC

Refractory cytopenia with multilineage dysplasia

Sacral hemangiomas-multiple congenital abnormalities syndrome

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Single-system multifocal Langerhans cell histiocytosis

Single-system multifocal histiocytosis X · Single-system multifocal Langerhans cell granulomatosis

Sodium-dependent multivitamin transporter deficiency

STAT3-related early-onset multisystem autoimmune disease

Steatocystoma multiplex-natal teeth syndrome

Stellate multiform amelanotic choroidopathy

Serous maculopathy due to aspecific choroidopathy · SMACH

Sterile multifocal osteomyelitis with periostitis and pustulosis

Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Syndromic multisystem autoimmune disease due to Itch deficiency

Tall stature-long halluces-multiple extra-epiphyses syndrome

Tall stature-scoliosis-macrodactyly of the halluces syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

Unilateral multicystic dysplastic kidney

Unilateral MCDK · Unilateral multicystic renal dysplasia