Rare Disease Library

Retinopathy of prematurity

ROP · Retrolental fibroplasia

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

MGA7 · 3-methylglutaconic aciduria type 7

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

4H leukodystrophy

POLR-related leukodystrophy

6-pyruvoyl-tetrahydropterin synthase deficiency

Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Achondroplasia

Acquired amyloid peripheral neuropathy

Acquired generalized lipodystrophy

Acquired lipoatrophic diabetes · Lawrence syndrome

Acquired neutropenia

Immunologic neutropenia

Acquired partial lipodystrophy

Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy

Acquired peripheral neuropathy

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Acropectororenal dysplasia

Acropectorovertebral dysplasia

F syndrome

Acute and subacute inflammatory demyelinating polyneuropathy

Acute and subacute inflammatory demyelinating polyradiculoneuropathy

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

Acute inflammatory demyelinating polyradiculoneuropathy

AIDP · Acute idiopathic demyelinating polyneuropathy

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

Acute motor axonal neuropathy

AMAN · Acute pure motor GBS

Acute pure sensory neuropathy

Acute pure sensory GBS · Acute pure sensory Guillain-Barré syndrome

Acute sensory ataxic neuropathy

ASAN · Acute sensory ataxic GBS

ADNP-related blepharophimosis-intellectual disability syndrome

Adrenomyeloneuropathy

Adrenomyodystrophy

Adult idiopathic neutropenia

Adult chronic idiopathic neutropenia

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

Albright hereditary osteodystrophy

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Angioosteohypotrophic syndrome

Phlebectatic osteohypoplastic angiodysplasia · Servelle-Martorell syndrome

Annular atrophic lichen planus

Annular atrophic LP

Anoctamin-5-related limb-girdle muscular dystrophy R12

Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD2L

Anonychia-onychodystrophy syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Anti-neutrophil cytoplasmic antibody-associated vasculitis

AAV · ANCA-associated vasculitis

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

Arrhinia-choanal atresia-microphthalmia syndrome

Ataxia neuropathy spectrum

Ataxia-hypogonadism-choroidal dystrophy syndrome

Boucher-Neuhäuser syndrome

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

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