Rare Disease Library

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Amino acid or protein metabolism disease with epilepsy

Aminopterin/methotrexate embryofetopathy

Aminopterin embryopathy syndrome · Fetal aminopterin syndrome

Amish lethal microcephaly

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

Aniridia-renal agenesis-psychomotor retardation syndrome

Sommer-Rathbun-Battles syndrome

Anomaly of puberty or/and menstrual cycle of genetic origin

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

Cassia Stocco dos Santos syndrome

Anterior segment developmental anomaly of genetic origin

Anterior urethral valve

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome · Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

Ataxia-tapetoretinal degeneration syndrome

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

Atresia of urethra

Urethral atresia

Atypical Norrie disease due to Xp11.3 microdeletion

Atypical Norrie disease due to del(X)(p11.3) · Atypical Norrie disease due to nullisomy Xp11.3

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

Autosomal dominant chorioretinopathy-microcephaly syndrome

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Autosomal dominant neovascular inflammatory vitreoretinopathy

ADNIV

Autosomal dominant osteopetrosis type 1

Autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant thrombocytopenia with platelet secretion defect

Autosomal dominant vitreoretinochoroidopathy

ADVIRC

Autosomal erythropoietic protoporphyria

EPP

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal CMT due to copper metabolism defect

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Autosomal recessive hypophosphatemic rickets

ARHR

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Autosomal recessive malignant osteopetrosis

Infantile malignant osteopetrosis

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive MSMD due to a complete deficiency

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive methemoglobinemia

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Autosomal thrombocytopenia with normal platelets

Avascular necrosis of genetic origin