Rare Disease Library

Machado-Joseph disease type 1

SCA3, Joseph type · Spinocerebellar ataxia type 3, Joseph type

Machado-Joseph disease type 2

SCA3, Thomas type · Spinocerebellar ataxia, Thomas type

Machado-Joseph disease type 3

SCA3, Machado type · Spinocerebellar ataxia type 3, Machado type

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 2 syndrome

Macrocephaly-developmental delay syndrome

Macrocephaly-intellectual disability-autism syndrome

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Fryns macrocephaly

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

Macrodactyly of fingers

Macrodactyly of hand

Macrodactyly of fingers, bilateral

Macrodactyly of hand, bilateral

Macrodactyly of fingers, unilateral

Macrodactyly of hand, unilateral

Macrodactyly of toes

Macrodactyly of foot

Macrodactyly of toes, bilateral

Macrodactyly of foot, bilateral

Macrodactyly of toes, unilateral

Macrodactyly of foot, unilateral

Macroglossia

Macrophage activation syndrome

Macrophage or histiocytic tumor

Macrophagic myofasciitis

MMF

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

Macrothrombocytopenia with mitral valve insufficiency

Macular amyloidosis

Macular coloboma-cleft palate-hallux valgus syndrome

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

Maculopapular cutaneous mastocytosis

Urticaria pigmentosa

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Bolivian hemorrhagic fever

Machupo hemorrhagic fever

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Hypocomplementemic urticarial vasculitis

Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Macroblepharon-ectropion-hypertelorism-macrostomia syndrome

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

Retinal degeneration-nanophthalmos-glaucoma syndrome

Mackay-Shek-Carr syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

Takenouchi-Kosaki syndrome

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

X-linked congenital generalized hypertrichosis

Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

Ablepharon macrostomia syndrome

AMS

Acute macular neuroretinopathy

AMNR

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome