Rare Disease Library

Radiculomegaly of canine teeth- congenital cataract

Marashi-Gorlin syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

Acrogeria

Acrogeria, Gottron type · Acrometageria

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Frontofacionasal dysplasia

Gollop syndrome

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Gorham-Stout disease

Gorham disease · Gorham syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Limb-mammary syndrome

LMS

Maffucci syndrome

Multiple Enchondromatosis, Maffucci Type · Multiple Enchondromatosis type II

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Majeed syndrome

Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

Marfan syndrome

MFS

Marin-Amat syndrome