autosomal recessive disease +
retinitis pigmentosa +

17-beta hydroxysteroid dehydrogenase 3 deficiency
2-aminoadipic 2-oxoadipic aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-M syndrome
3-methylcrotonyl-CoA carboxylase deficiency +
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3MC syndrome +
46,XY sex reversal 5
46,XY sex reversal 7
46,XY sex reversal 8
ABCD syndrome
abetalipoproteinemia
aceruloplasminemia
achalasia microcephaly syndrome
acheiropody
achondrogenesis type IA
achondrogenesis type IB
achromatopsia 2
achromatopsia 3
achromatopsia 7
acrocapitofemoral dysplasia
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
acromesomelic dysplasia-4
acrorenal syndrome
adenine phosphoribosyltransferase deficiency
adult spinal muscular atrophy
agammaglobulinemia 1
agammaglobulinemia 2
agammaglobulinemia 3
agammaglobulinemia 4
agammaglobulinemia 6
agammaglobulinemia 7
agammaglobulinemia 8B
agammaglobulinemia 9
AGAT deficiency
agenesis of the corpus callosum with peripheral neuropathy
alacrima, achalasia, and impaired intellectual development syndrome
Alkuraya-Kucinskas syndrome
alopecia universalis
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alopecia-mental retardation syndrome 3
alopecia-mental retardation syndrome 4
Alpers-Huttenlocher syndrome
alpha-2-plasmin inhibitor deficiency
Alstrom syndrome
AMED syndrome
amelogenesis imperfecta hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A3
amelogenesis imperfecta hypomaturation type 2A4
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 1J
amelogenesis imperfecta type 2A1
amelogenesis imperfecta type 2A6
amelogenesis imperfecta type 3C
amyotrophic lateral sclerosis type 1
anauxetic dysplasia 1
anauxetic dysplasia 2
anauxetic dysplasia 3
anterior segment dysgenesis 2
anterior segment dysgenesis 7
anterior segment dysgenesis 8
antithrombin III deficiency
Antley-Bixler syndrome with disordered steroidogenesis
ARC syndrome +
arthrogryposis multiplex congenita +
asphyxiating thoracic dystrophy 1
asphyxiating thoracic dystrophy 2
asphyxiating thoracic dystrophy 3
asphyxiating thoracic dystrophy 4
asphyxiating thoracic dystrophy 5
Athabaskan brainstem dysgenesis syndrome
atransferrinemia
atrial standstill 2
atrichia with papular lesions
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autosomal recessive Alport syndrome
autosomal recessive centronuclear myopathy +
autosomal recessive cerebellar ataxia +
autosomal recessive chronic granulomatous disease 1
autosomal recessive chronic granulomatous disease 2
autosomal recessive chronic granulomatous disease 3
autosomal recessive chronic granulomatous disease 4
autosomal recessive chronic granulomatous disease 5
autosomal recessive congenital bilateral absence of vas deferens
autosomal recessive congenital ichthyosis +
autosomal recessive congenital nystagmus
autosomal recessive craniometaphyseal dysplasia
autosomal recessive cutis laxa type I +
autosomal recessive cutis laxa type II classic type +
autosomal recessive cutis laxa type IIB
autosomal recessive cutis laxa type III +
autosomal recessive distal hereditary motor neuronopathy +
autosomal recessive dyskeratosis congenita 1
autosomal recessive dyskeratosis congenita 2
autosomal recessive dyskeratosis congenita 3
autosomal recessive dyskeratosis congenita 4
autosomal recessive dyskeratosis congenita 5
autosomal recessive dyskeratosis congenita 6
autosomal recessive Emery-Dreifuss muscular dystrophy 3
autosomal recessive hyaline body myopathy
autosomal recessive hypophosphatemic rickets
autosomal recessive intellectual developmental disorder +
autosomal recessive isolated ectopia lentis 2
autosomal recessive limb-girdle muscular dystrophy +
autosomal recessive nonsyndromic deafness +
autosomal recessive osteopetrosis 1
autosomal recessive osteopetrosis 2
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 4
autosomal recessive osteopetrosis 5
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis 7
autosomal recessive osteopetrosis 8
autosomal recessive pericentral pigmentary retinopathy
autosomal recessive pericentral pigmentary retinopathy
autosomal recessive polycystic kidney disease +
autosomal recessive progressive external ophthalmoplegia 1
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal recessive pseudohypoaldosteronism type 1
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
autosomal recessive Robinow syndrome
autosomal recessive Robinow syndrome 2
autosomal recessive spondyloepiphyseal dysplasia tarda
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
autosomal recessive thrombophilia due to protein C deficiency
autosomal recessive thrombophilia due to protein S deficiency
autosomal recessive type IV Ehlers-Danlos syndrome
autosomal recessive Whistling face syndrome
autosomal recessive woolly hair 3
axial spondylometaphyseal dysplasia
Bardet-Biedl syndrome +
Becker disease
Behr syndrome
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
bent bone dysplasia syndrome 2
Bernard-Soulier syndrome +
beta-ketothiolase deficiency
BH4-deficient hyperphenylalaninemia A
BH4-deficient hyperphenylalaninemia B
BH4-deficient hyperphenylalaninemia C
BH4-deficient hyperphenylalaninemia D
bilateral frontoparietal polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
biotinidase deficiency
Bjornstad syndrome
Bloom syndrome
Boucher-Neuhauser syndrome
Bowen-Conradi syndrome
brachyolmia-amelogenesis imperfecta syndrome
bradyopsia +
brain small vessel disease 3
branched-chain keto acid dehydrogenase kinase deficiency
brittle cornea syndrome 1
brittle cornea syndrome 2
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Canavan disease
carbamoyl phosphate synthetase I deficiency disease
carboxypeptidase N deficiency
carnitine-acylcarnitine translocase deficiency
Caroli syndrome
cartilage-hair hypoplasia
cataract 11 multiple types
cataract 13 with adult i phenotype
cataract 16 multiple types
cataract 17 multiple types
cataract 18
cataract 19 multiple types
cataract 22 multiple types
cataract 33
cataract 35
cataract 36
cataract 38
cataract 44
cataract 45
cataract 46 juvenile-onset
cataract 48
cataract 9 multiple types
CD3epsilon deficiency
CD3gamma deficiency
CEDNIK syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellofaciodental syndrome
cerebral folate receptor alpha deficiency
Charcot-Marie-Tooth disease axonal type 2H
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2A2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2EE
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Chediak-Higashi syndrome
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
CHIME syndrome
chondrodysplasia with joint dislocations gPAPP type
choreaacanthocytosis
classic dopamine transporter deficiency syndrome
classic galactosemia
cleft lip-palate-ectodermal dysplasia syndrome
COACH syndrome
Cockayne syndrome +
CODAS syndrome
Cohen syndrome
cold-induced sweating syndrome +
combined cellular and humoral immune defects with granulomas
combined D-2- and L-2-hydroxyglutaric aciduria
combined deficiency of vitamin K-dependent clotting factors 1
combined deficiency of vitamin K-dependent clotting factors 2
combined malonic and methylmalonic acidemia
combined oxidative phosphorylation deficiency 1
combined oxidative phosphorylation deficiency 10
combined oxidative phosphorylation deficiency 11
combined oxidative phosphorylation deficiency 12
combined oxidative phosphorylation deficiency 13
combined oxidative phosphorylation deficiency 14
combined oxidative phosphorylation deficiency 15
combined oxidative phosphorylation deficiency 16
combined oxidative phosphorylation deficiency 17
combined oxidative phosphorylation deficiency 18
combined oxidative phosphorylation deficiency 19
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 20
combined oxidative phosphorylation deficiency 21
combined oxidative phosphorylation deficiency 22
combined oxidative phosphorylation deficiency 23
combined oxidative phosphorylation deficiency 24
combined oxidative phosphorylation deficiency 25
combined oxidative phosphorylation deficiency 26
combined oxidative phosphorylation deficiency 27
combined oxidative phosphorylation deficiency 28
combined oxidative phosphorylation deficiency 29
combined oxidative phosphorylation deficiency 3
combined oxidative phosphorylation deficiency 30
combined oxidative phosphorylation deficiency 31
combined oxidative phosphorylation deficiency 32
combined oxidative phosphorylation deficiency 33
combined oxidative phosphorylation deficiency 34
combined oxidative phosphorylation deficiency 35
combined oxidative phosphorylation deficiency 36
combined oxidative phosphorylation deficiency 37
combined oxidative phosphorylation deficiency 38
combined oxidative phosphorylation deficiency 39
combined oxidative phosphorylation deficiency 4
combined oxidative phosphorylation deficiency 40
combined oxidative phosphorylation deficiency 41
combined oxidative phosphorylation deficiency 42
combined oxidative phosphorylation deficiency 43
combined oxidative phosphorylation deficiency 44
combined oxidative phosphorylation deficiency 45
combined oxidative phosphorylation deficiency 46
combined oxidative phosphorylation deficiency 47
combined oxidative phosphorylation deficiency 48
combined oxidative phosphorylation deficiency 49
combined oxidative phosphorylation deficiency 5
combined oxidative phosphorylation deficiency 50
combined oxidative phosphorylation deficiency 51
combined oxidative phosphorylation deficiency 52
combined oxidative phosphorylation deficiency 53
combined oxidative phosphorylation deficiency 54
combined oxidative phosphorylation deficiency 56
combined oxidative phosphorylation deficiency 57
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 8
combined oxidative phosphorylation deficiency 9
common variable immunodeficiency +
Compton-North congenital myopathy
cone-rod dystrophy 21
cone-rod dystrophy 22
congenital adrenal insufficiency
congenital afibrinogenemia
congenital amegakaryocytic thrombocytopenia +
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 7 with exudative enteropathy
congenital disorder of deglycosylation 1
congenital disorder of deglycosylation 2
congenital disorder of glycosylation Ia
congenital disorder of glycosylation Iaa
congenital disorder of glycosylation Ib
congenital disorder of glycosylation Ic
congenital disorder of glycosylation Id
congenital disorder of glycosylation Ie
congenital disorder of glycosylation If
congenital disorder of glycosylation Ig
congenital disorder of glycosylation Ih
congenital disorder of glycosylation Ii
congenital disorder of glycosylation Ij
congenital disorder of glycosylation Ik
congenital disorder of glycosylation Il
congenital disorder of glycosylation Im
congenital disorder of glycosylation In
congenital disorder of glycosylation Ip
congenital disorder of glycosylation Iq
congenital disorder of glycosylation Ir
congenital disorder of glycosylation It
congenital disorder of glycosylation Iu
congenital disorder of glycosylation Iw
congenital disorder of glycosylation Ix
congenital disorder of glycosylation type IIa
congenital disorder of glycosylation type IIb
congenital disorder of glycosylation type IIc
congenital disorder of glycosylation type IId
congenital disorder of glycosylation type IIe
congenital disorder of glycosylation type IIf
congenital disorder of glycosylation type IIg
congenital disorder of glycosylation type IIh
congenital disorder of glycosylation type IIi
congenital disorder of glycosylation type IIj
congenital disorder of glycosylation type IIk
congenital disorder of glycosylation type IIl
congenital disorder of glycosylation type IIn
congenital disorder of glycosylation type IIo
congenital disorder of glycosylation type IIp
congenital disorder of glycosylation type IIq
congenital dyserythropoietic anemia type Ia
congenital dyserythropoietic anemia type Ib
congenital dyserythropoietic anemia type II
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 5
congenital generalized lipodystrophy +
congenital glutamine deficiency
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital hereditary endothelial dystrophy of cornea
congenital hypotrichosis with juvenile macular dystrophy
congenital lactase deficiency
congenital leptin deficiency
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A
congenital muscular dystrophy 1B
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy with cataracts and intellectual disability
congenital muscular dystrophy-dystroglycanopathy type A +
congenital myasthenic syndrome 10
congenital myasthenic syndrome 11
congenital myasthenic syndrome 12
congenital myasthenic syndrome 13
congenital myasthenic syndrome 14
congenital myasthenic syndrome 15
congenital myasthenic syndrome 16
congenital myasthenic syndrome 17
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 22
congenital myasthenic syndrome 2C
congenital myasthenic syndrome 3B
congenital myasthenic syndrome 3C
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C
congenital myasthenic syndrome 5
congenital myasthenic syndrome 6
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
congenital myopathy 10B
congenital myopathy 14
congenital myopathy 17
congenital myopathy 18
congenital myopathy 19
congenital myopathy 1A
congenital myopathy 20
congenital myopathy 21
congenital myopathy 22A
congenital myopathy 22B
congenital myopathy 2B
congenital myopathy 5
congenital myopathy 6
congenital myopathy 9A
congenital myopathy 9B
congenital nongoitrous hypothyroidism 1
congenital nongoitrous hypothyroidism 4
congenital nongoitrous hypothyroidism 7
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness 1B
congenital stationary night blindness 1C
congenital stationary night blindness 1D
congenital stationary night blindness 1E
congenital stationary night blindness 1F
congenital stationary night blindness 1G
congenital stationary night blindness 1H
congenital sucrase-isomaltase deficiency
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
corneal dystrophy-perceptive deafness syndrome
cortical dysplasia-focal epilepsy syndrome
corticosterone methyloxidase deficiency 1
cortisone reductase deficiency 1
cranioectodermal dysplasia +
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
craniolenticulosutural dysplasia
craniotubular dysplasia Ikegawa type
cystathioninuria
cystic fibrosis
cystinosis
cytochrome P450 oxidoreductase deficiency
D-2-hydroxyglutaric aciduria 1
D-glyceric aciduria
developmental and epileptic encephalopathy 101
developmental and epileptic encephalopathy 102
developmental and epileptic encephalopathy 105
developmental and epileptic encephalopathy 106
developmental and epileptic encephalopathy 107
developmental and epileptic encephalopathy 110
developmental and epileptic encephalopathy 12
developmental and epileptic encephalopathy 15
developmental and epileptic encephalopathy 16
developmental and epileptic encephalopathy 18
developmental and epileptic encephalopathy 21
developmental and epileptic encephalopathy 23
developmental and epileptic encephalopathy 25
developmental and epileptic encephalopathy 28
developmental and epileptic encephalopathy 29
developmental and epileptic encephalopathy 3
developmental and epileptic encephalopathy 31B
developmental and epileptic encephalopathy 34
developmental and epileptic encephalopathy 35
developmental and epileptic encephalopathy 37
developmental and epileptic encephalopathy 38
developmental and epileptic encephalopathy 39
developmental and epileptic encephalopathy 40
developmental and epileptic encephalopathy 44
developmental and epileptic encephalopathy 48
developmental and epileptic encephalopathy 49
developmental and epileptic encephalopathy 50
developmental and epileptic encephalopathy 51
developmental and epileptic encephalopathy 52
developmental and epileptic encephalopathy 53
developmental and epileptic encephalopathy 55
developmental and epileptic encephalopathy 60
developmental and epileptic encephalopathy 61
developmental and epileptic encephalopathy 63
developmental and epileptic encephalopathy 68
developmental and epileptic encephalopathy 71
developmental and epileptic encephalopathy 75
developmental and epileptic encephalopathy 76
developmental and epileptic encephalopathy 80
developmental and epileptic encephalopathy 81
developmental and epileptic encephalopathy 82
developmental and epileptic encephalopathy 83
developmental and epileptic encephalopathy 84
developmental and epileptic encephalopathy 86
developmental and epileptic encephalopathy 88
developmental and epileptic encephalopathy 89
developmental and epileptic encephalopathy 95
diastrophic dysplasia
dicarboxylic aminoaciduria
dihydropyrimidinase deficiency
dilated cardiomyopathy 1X
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
dilated cardiomyopathy 2C
dilated cardiomyopathy 2D
dilated cardiomyopathy 2E
dilated cardiomyopathy 2F
dilated cardiomyopathy 2G
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
distal arthrogryposis type 5D
distal myopathy with anterior tibial onset
DNA ligase IV deficiency
dominant pericentral pigmentary retinopathy
Donnai-Barrow syndrome
Donohue syndrome
DOORS syndrome
dopa-responsive dystonia
Dubowitz syndrome
Dyggve-Melchior-Clausen disease +
dystonia 16
dystonia 22, adult-onset
dystonia 22, juvenile-onset
dystonia 27
dystonia 31
dystonia 32
dystonia 33
dystonia 35, childhood-onset
dystonia 37, early-onset with striatal lesions
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
EAST syndrome
ectodermal dysplasia 10B
ectodermal dysplasia 11B
ectodermal dysplasia 13
ectodermal dysplasia 14
ectodermal dysplasia 15
ectodermal dysplasia 4
ectodermal dysplasia 5
ectodermal dysplasia 6
ectodermal dysplasia 7
ectodermal dysplasia 8
ectodermal dysplasia 9
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
ectopia lentis with ectopia of pupil
Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome classic-like 1
Ehlers-Danlos syndrome classic-like 2
Ehlers-Danlos syndrome dermatosparaxis type
Ehlers-Danlos syndrome kyphoscoliotic type 1
Ehlers-Danlos syndrome kyphoscoliotic type 2
Ehlers-Danlos syndrome musculocontractural type 1
Ehlers-Danlos syndrome musculocontractural type 2
Ehlers-Danlos syndrome spondylodysplastic type 1
Ehlers-Danlos syndrome spondylodysplastic type 2
Eiken syndrome
Ellis-Van Creveld syndrome
encephalopathy due to defective mitochondrial and peroxisomal fission 2
endocrine-cerebro-osteodysplasia syndrome
enhanced S-cone syndrome
enterokinase deficiency
epidermodysplasia verruciformis
epidermolysis bullosa simplex with muscular dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 4
erythrokeratodermia variabilis et progressiva 5
essential fructosuria
factor V deficiency
factor VII deficiency
factor X deficiency
factor XII deficiency
factor XIII deficiency
familial adenomatous polyposis 2
familial adenomatous polyposis 3
familial adenomatous polyposis 4
familial adult myoclonic epilepsy 5
familial apolipoprotein C-II deficiency
familial benign fleck retina
familial erythrocytosis 2
familial GPIHBP1 deficiency
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
familial hepatic adenoma
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 4
familial hyperinsulinemic hypoglycemia 8
familial hypertryptophanemia
familial isolated trichomegaly
familial lipase maturation factor 1 deficiency
familial lipoprotein lipase deficiency
familial partial lipodystrophy type 5
familial partial lipodystrophy type 6
familial renal glucosuria
familial temporal lobe epilepsy 5
Fanconi anemia complementation group A
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group I
Fanconi anemia complementation group L
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia complementation group S
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fanconi anemia complementation group W
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 5
Fanconi-Bickel syndrome
fatal infantile hypertonic myofibrillar myopathy
Fazio-Londe disease
fetal akinesia deformation sequence syndrome 1
fetal akinesia deformation sequence syndrome 2
fetal akinesia deformation sequence syndrome 3
fetal akinesia deformation sequence syndrome 4
fetal encasement syndrome
fibrochondrogenesis 1
fibrochondrogenesis 2
fibular hypoplasia and complex brachydactyly
Filippi syndrome
focal segmental glomerulosclerosis 6
focal segmental glomerulosclerosis 9
foveal hypoplasia 2
Frank-Ter Haar syndrome
Fraser syndrome +
frontonasal dysplasia 1
frontonasal dysplasia 2
frontonasal dysplasia 3
Fuhrmann syndrome
fumarase deficiency
galactose epimerase deficiency
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
gamma-glutamyl transpeptidase deficiency
gangliosidosis +
GAPO syndrome
Gaucher's disease type III +
gelatinous drop-like corneal dystrophy
geleophysic dysplasia 1
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
giant axonal neuropathy 1
Gitelman syndrome
glucocorticoid deficiency 1
glucose-galactose malabsorption
glutamate formiminotransferase deficiency
glutamate-cysteine ligase deficiency
glutaric acidemia I
glutaric acidemia type 3
glutathione synthetase deficiency of erythrocytes
glutatione synthetase deficiency with 5-oxoprolinuria
glycine encephalopathy +
glycogen storage disease Ia
glycogen storage disease Ib
glycogen storage disease Ic
glycogen storage disease II
glycogen storage disease III
glycogen storage disease IV
glycogen storage disease IXc
glycogen storage disease V
glycogen storage disease VI
glycogen storage disease VII
glycogen storage disease XV
GNE myopathy
Goldberg-Shprintzen syndrome
Gordon Holmes syndrome
GRACILE syndrome
gray platelet syndrome
Greenberg dysplasia
Griscelli syndrome +
growth hormone insensitivity syndrome with immune dysregulation 1
Halperin-Birk syndrome
Harel-Yoon syndrome
Heimler syndrome 1
Heimler syndrome 2
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary angioedema type I
hereditary arterial and articular multiple calcification syndrome
hereditary folate malabsorption
hereditary sensory and autonomic neuropathy type 2A
hereditary sensory and autonomic neuropathy type 2B
hereditary sensory and autonomic neuropathy type 5
hereditary sensory and autonomic neuropathy type 6
hereditary sensory and autonomic neuropathy type 8
hereditary sensory neuropathy type 2C
hereditary sensory neuropathy type 4
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 18
hereditary spastic paraplegia 23
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 32
hereditary spastic paraplegia 35
hereditary spastic paraplegia 39
hereditary spastic paraplegia 43
hereditary spastic paraplegia 44
hereditary spastic paraplegia 45
hereditary spastic paraplegia 46
hereditary spastic paraplegia 47
hereditary spastic paraplegia 48
hereditary spastic paraplegia 49
hereditary spastic paraplegia 50
hereditary spastic paraplegia 51
hereditary spastic paraplegia 52
hereditary spastic paraplegia 53
hereditary spastic paraplegia 54
hereditary spastic paraplegia 55
hereditary spastic paraplegia 56
hereditary spastic paraplegia 57
hereditary spastic paraplegia 5A
hereditary spastic paraplegia 61
hereditary spastic paraplegia 62
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 70
hereditary spastic paraplegia 72A
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 78
hereditary spastic paraplegia 79B
hereditary spastic paraplegia 81
hereditary spastic paraplegia 82
hereditary spastic paraplegia 83
hereditary spastic paraplegia 84
hereditary spastic paraplegia 85
hereditary spastic paraplegia 86
hereditary spastic paraplegia 87
hereditary spastic paraplegia 89
hereditary spastic paraplegia 9B
hereditary spherocytosis type 1
hereditary spherocytosis type 3
hereditary spherocytosis type 5
Hermansky-Pudlak syndrome +
high molecular weight kininogen deficiency
high myopia-sensorineural deafness syndrome
histiocytosis-lymphadenopathy plus syndrome
HMG-CoA synthase 2 deficiency
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
hyaline fibromatosis syndrome
hydrolethalus syndrome +
hydroxykynureninuria
hyper IgE recurrent infection syndrome 2
hyper IgE recurrent infection syndrome 3
hyper IgE recurrent infection syndrome 4
hyperekplexia 1
hyperekplexia 2
hyperekplexia 3
hyperekplexia 4
hyperphosphatemic familial tumoral calcinosis
hyperprolinemia type 1
hyperprolinemia type 2
hypertelorism, microtia, facial clefting syndrome
hypervalinemia and hyperleucine-isoleucinemia
hypogonadotropic hypogonadism 10 with or without anosmia
hypogonadotropic hypogonadism 11 with or without anosmia
hypogonadotropic hypogonadism 12 with or without anosmia
hypogonadotropic hypogonadism 13 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 22 with or without anosmia
hypogonadotropic hypogonadism 23 with or without anosmia
hypogonadotropic hypogonadism 24 without anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
hypogonadotropic hypogonadism 8 with or without anosmia
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 11
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 14
hypomyelinating leukodystrophy 15
hypomyelinating leukodystrophy 17
hypomyelinating leukodystrophy 18
hypomyelinating leukodystrophy 2
hypomyelinating leukodystrophy 20
hypomyelinating leukodystrophy 21
hypomyelinating leukodystrophy 23
hypomyelinating leukodystrophy 26
hypomyelinating leukodystrophy 3
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 7
hypomyelinating leukodystrophy 8
hypomyelinating leukodystrophy 9
hypoparathyroidism-retardation-dysmorphism syndrome
hypotrichosis 10
hypotrichosis 15
hypotrichosis 6
hypotrichosis 7
hypotrichosis 8
hypotrichosis 9
hypotrichosis-lymphedema-telangiectasia syndrome
immunodeficiency 10
immunodeficiency 11A
immunodeficiency 12
immunodeficiency 15B
immunodeficiency 16
immunodeficiency 17
immunodeficiency 18
immunodeficiency 19
immunodeficiency 20
immunodeficiency 22
immunodeficiency 23
immunodeficiency 24
immunodeficiency 25
immunodeficiency 26
immunodeficiency 27A
immunodeficiency 28
immunodeficiency 29
immunodeficiency 30
immunodeficiency 31B
immunodeficiency 32B
immunodeficiency 35
immunodeficiency 37
immunodeficiency 38
immunodeficiency 40
immunodeficiency 41
immunodeficiency 42
immunodeficiency 43
immunodeficiency 44
immunodeficiency 45
immunodeficiency 46
immunodeficiency 48
immunodeficiency 51
immunodeficiency 52
immunodeficiency 53
immunodeficiency 54
immunodeficiency 55
immunodeficiency 56
immunodeficiency 57
immunodeficiency 58
immunodeficiency 59
immunodeficiency 61
immunodeficiency 62
immunodeficiency 63
immunodeficiency 64
immunodeficiency 65
immunodeficiency 66
immunodeficiency 69
immunodeficiency 7
immunodeficiency 71
immunodeficiency 72
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
immunodeficiency 79
immunodeficiency 9
immunodeficiency with hyper IgM type 3
immunodeficiency with hyper IgM type 5
immunodeficiency with hyper-IgM type 2
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin alpha deficiency
infantile cerebellar-retinal degeneration
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile liver failure syndrome 1
infantile parkinsonism-dystonia 2
inflammatory bowel disease 25
inflammatory bowel disease 28
inflammatory poikiloderma with hair abnormalities and acral keratoses
intellectual developmental disorder with cardiac arrhythmia
intellectual developmental disorder with short stature and behavioral abnormalities
intermediate spinal muscular atrophy
interstitial lung disease 1
isolated hyperchlorhidrosis
isolated microphthalmia 1
isolated microphthalmia 2
isolated microphthalmia 3
isolated microphthalmia 5
isolated microphthalmia 6
isolated microphthalmia 8
isolated sulfite oxidase deficiency
Jackson-Weiss syndrome
Jalili syndrome
Johanson-Blizzard syndrome
junctional epidermolysis bullosa Herlitz type
junctional epidermolysis bullosa non-Herlitz type
junctional epidermolysis bullosa with pyloric atresia
Kahrizi syndrome
karyomegalic interstitial nephritis
Kaufman oculocerebrofacial syndrome
Kenny-Caffey syndrome type 1
keratosis pilaris atrophicans +
Klippel-Feil syndrome 2
Klippel-Feil syndrome 4
Kohlschutter-Tonz syndrome
Kufor-Rakeb syndrome
Lafora disease
Laron syndrome
Larsen-like syndrome B3GAT3 type
late-adult onset retinitis pigmentosa
late-adult onset retinitis pigmentosa
Laurence-Moon syndrome
Leber congenital amaurosis 1
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 2
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 8
Leber congenital amaurosis 9
lethal congenital contracture syndrome +
leukocyte adhesion deficiency +
leukoencephalopathy with vanishing white matter +
Leydig cell hypoplasia +
lissencephaly 4
lissencephaly 5
lissencephaly 6
lissencephaly 7 with cerebellar hypoplasia
lissencephaly 8
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
lysosomal acid lipase deficiency +
Mahvash Disease
mal de Meleda
mandibuloacral dysplasia type B lipodystrophy
Marinesco-Sjogren syndrome
Martsolf syndrome
McKusick-Kaufman syndrome
Meckel syndrome 13
megaconial type congenital muscular dystrophy
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 2A
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
Meier-Gorlin syndrome 7
Meier-Gorlin syndrome 8
methemoglobinemia and ambiguous genitalia
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly, seizures, and developmental delay
microcephaly, short stature, and limb abnormalities
microphthalmia with limb anomalies
microvillus inclusion disease
mismatch repair cancer syndrome
mitochondrial complex IV deficiency nuclear type 1
mitochondrial complex IV deficiency nuclear type 10
mitochondrial complex IV deficiency nuclear type 11
mitochondrial complex IV deficiency nuclear type 12
mitochondrial complex IV deficiency nuclear type 13
mitochondrial complex IV deficiency nuclear type 14
mitochondrial complex IV deficiency nuclear type 15
mitochondrial complex IV deficiency nuclear type 16
mitochondrial complex IV deficiency nuclear type 17
mitochondrial complex IV deficiency nuclear type 18
mitochondrial complex IV deficiency nuclear type 19
mitochondrial complex IV deficiency nuclear type 2
mitochondrial complex IV deficiency nuclear type 20
mitochondrial complex IV deficiency nuclear type 21
mitochondrial complex IV deficiency nuclear type 22
mitochondrial complex IV deficiency nuclear type 23
mitochondrial complex IV deficiency nuclear type 3
mitochondrial complex IV deficiency nuclear type 4
mitochondrial complex IV deficiency nuclear type 6
mitochondrial complex IV deficiency nuclear type 7
mitochondrial complex IV deficiency nuclear type 8
mitochondrial complex IV deficiency nuclear type 9
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
mitochondrial complex V (ATP synthase) deficiency nuclear type 5
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
mitochondrial DNA depletion syndrome 1
mitochondrial DNA depletion syndrome 11
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 13
mitochondrial DNA depletion syndrome 15
mitochondrial DNA depletion syndrome 16
mitochondrial DNA depletion syndrome 16B
mitochondrial DNA depletion syndrome 17
mitochondrial DNA depletion syndrome 18
mitochondrial DNA depletion syndrome 19
mitochondrial DNA depletion syndrome 2
mitochondrial DNA depletion syndrome 20
mitochondrial DNA depletion syndrome 3
mitochondrial DNA depletion syndrome 4b
mitochondrial DNA depletion syndrome 5
mitochondrial DNA depletion syndrome 6
mitochondrial DNA depletion syndrome 7
mitochondrial DNA depletion syndrome 8a
mitochondrial DNA depletion syndrome 8b
mitochondrial DNA depletion syndrome 9
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
mitochondrial trifunctional protein deficiency +
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
mosaic variegated aneuploidy syndrome 3
mosaic variegated aneuploidy syndrome 4
mucolipidosis III alpha/beta
mucolipidosis III gamma
mucopolysaccharidosis Ih
mucopolysaccharidosis Ih/s
mucopolysaccharidosis IVA
mucopolysaccharidosis type IIIA
mucopolysaccharidosis type IIIB
mucopolysaccharidosis type IIIC
mucopolysaccharidosis type IIID
mucopolysaccharidosis type IVB
mucosulfatidosis
mulibrey nanism
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple congenital anomalies-hypotonia-seizures syndrome 4
multiple epiphyseal dysplasia 4
multiple epiphyseal dysplasia 7
multiple intestinal atresia
multiple mitochondrial dysfunctions syndrome 1
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 3
multiple mitochondrial dysfunctions syndrome 4
multiple mitochondrial dysfunctions syndrome 5
multiple mitochondrial dysfunctions syndrome 6
muscular dystrophy-dystroglycanopathy type B1
muscular dystrophy-dystroglycanopathy type B14
muscular dystrophy-dystroglycanopathy type B15
muscular dystrophy-dystroglycanopathy type B2
muscular dystrophy-dystroglycanopathy type B3
muscular dystrophy-dystroglycanopathy type B4
muscular dystrophy-dystroglycanopathy type B5
muscular dystrophy-dystroglycanopathy type B6
muscular dystrophy-dystroglycanopathy type C12
muscular dystrophy-dystroglycanopathy type C8
myofibrillar myopathy 1
myofibrillar myopathy 10
myofibrillar myopathy 7
myofibrillar myopathy 8
myopathy with extrapyramidal signs
N-acetylglutamate synthase deficiency
Nagashima-type palmoplantar keratosis
Nasu-Hakola disease
Native American myopathy
nemaline myopathy 1
nemaline myopathy 10
nemaline myopathy 11
nemaline myopathy 2
nemaline myopathy 3
nemaline myopathy 5A
nemaline myopathy 5B
nemaline myopathy 7
nemaline myopathy 8
nemaline myopathy 9
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
neonatal-onset type II citrullinemia
nephrogenic diabetes insipidus type 2
nephronophthisis +
nephrotic syndrome type 1
nephrotic syndrome type 10
nephrotic syndrome type 11
nephrotic syndrome type 12
nephrotic syndrome type 13
nephrotic syndrome type 14
nephrotic syndrome type 15
nephrotic syndrome type 16
nephrotic syndrome type 17
nephrotic syndrome type 18
nephrotic syndrome type 19
nephrotic syndrome type 2
nephrotic syndrome type 21
nephrotic syndrome type 22
nephrotic syndrome type 23
nephrotic syndrome type 3
nephrotic syndrome type 5
nephrotic syndrome type 6
nephrotic syndrome type 7
nephrotic syndrome type 8
nephrotic syndrome type 9
Nestor-Guillermo progeria syndrome
Netherton syndrome
neurodegeneration with brain iron accumulation 2a
neurodegeneration with brain iron accumulation 2b
neurodegeneration with brain iron accumulation 4
neurodegeneration with brain iron accumulation 6
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with midbrain and hindbrain malformations
neuronal ceroid lipofuscinosis 1
neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis 11
neuronal ceroid lipofuscinosis 13
neuronal ceroid lipofuscinosis 2
neuronal ceroid lipofuscinosis 3
neuronal ceroid lipofuscinosis 5
neuronal ceroid lipofuscinosis 6A
neuronal ceroid lipofuscinosis 6B
neuronal ceroid lipofuscinosis 7
neuronal ceroid lipofuscinosis 8
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
neuronal ceroid lipofuscinosis 9
Nezelof syndrome
Nijmegen breakage syndrome
nonphotosensitive trichothiodystrophy 4
nonphotosensitive trichothiodystrophy 6
nonphotosensitive trichothiodystrophy 7
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 4
nonsyndromic congenital nail disorder 9
Noonan syndrome 2
Norman-Roberts syndrome
nuclear type mitochondrial complex I deficiency 1
nuclear type mitochondrial complex I deficiency 10
nuclear type mitochondrial complex I deficiency 11
nuclear type mitochondrial complex I deficiency 13
nuclear type mitochondrial complex I deficiency 14
nuclear type mitochondrial complex I deficiency 15
nuclear type mitochondrial complex I deficiency 16
nuclear type mitochondrial complex I deficiency 17
nuclear type mitochondrial complex I deficiency 18
nuclear type mitochondrial complex I deficiency 19
nuclear type mitochondrial complex I deficiency 2
nuclear type mitochondrial complex I deficiency 20
nuclear type mitochondrial complex I deficiency 21
nuclear type mitochondrial complex I deficiency 22
nuclear type mitochondrial complex I deficiency 23
nuclear type mitochondrial complex I deficiency 24
nuclear type mitochondrial complex I deficiency 25
nuclear type mitochondrial complex I deficiency 26
nuclear type mitochondrial complex I deficiency 27
nuclear type mitochondrial complex I deficiency 28
nuclear type mitochondrial complex I deficiency 29
nuclear type mitochondrial complex I deficiency 3
nuclear type mitochondrial complex I deficiency 31
nuclear type mitochondrial complex I deficiency 32
nuclear type mitochondrial complex I deficiency 33
nuclear type mitochondrial complex I deficiency 34
nuclear type mitochondrial complex I deficiency 35
nuclear type mitochondrial complex I deficiency 4
nuclear type mitochondrial complex I deficiency 5
nuclear type mitochondrial complex I deficiency 6
nuclear type mitochondrial complex I deficiency 7
nuclear type mitochondrial complex I deficiency 8
nuclear type mitochondrial complex I deficiency 9
oculocutaneous albinism +
Oguchi disease-1
Oguchi disease-2
Oliver-McFarlane syndrome
omodysplasia 1
optic atrophy 11
optic atrophy 6
optic atrophy 7
optic atrophy 9
optic disc anomalies with retinal and/or macular dystrophy
orofacial cleft 14
orofacial cleft 7
orofaciodigital syndrome II
orofaciodigital syndrome III
orofaciodigital syndrome IV
orofaciodigital syndrome IX
orofaciodigital syndrome V
orofaciodigital syndrome XIV
orofaciodigital syndrome XIX
orofaciodigital syndrome XVI
orofaciodigital syndrome XVII
orofaciodigital syndrome XVIII
orofaciodigital syndrome XX
osteogenesis imperfecta type 10
osteogenesis imperfecta type 11
osteogenesis imperfecta type 12
osteogenesis imperfecta type 13
osteogenesis imperfecta type 15
osteogenesis imperfecta type 17
osteogenesis imperfecta type 18
osteogenesis imperfecta type 20
osteogenesis imperfecta type 21
osteogenesis imperfecta type 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
osteoporosis-pseudoglioma syndrome
osteosclerotic metaphyseal dysplasia
otospondylomegaepiphyseal dysplasia, autosomal recessive
otulipenia
ovarian dysgenesis 1
ovarian dysgenesis 10
ovarian dysgenesis 3
ovarian dysgenesis 4
ovarian dysgenesis 5
ovarian dysgenesis 6
ovarian dysgenesis 7
ovarian dysgenesis 9
oxoglutarate dehydrogenase deficiency
Paget's disease of bone 5
palmoplantar keratoderma and woolly hair
pancreatic agenesis 1
pancreatic agenesis 2
pantothenate kinase-associated neurodegeneration
Papillon-Lefevre disease
Parkinson's disease 14
Parkinson's disease 15
Parkinson's disease 19A
Parkinson's disease 2
Parkinson's disease 20
Parkinson's disease 23
Parkinson's disease 25
Parkinson's disease 6
Parkinson's disease 7
peeling skin syndrome +
Pendred Syndrome
pentosuria
permanent neonatal diabetes mellitus
peroxisomal acyl-CoA oxidase deficiency
Peroxisome biogenesis disorder 10B
Peroxisome biogenesis disorder 11B
peroxisome biogenesis disorder 14B
peroxisome biogenesis disorder 1B
peroxisome biogenesis disorder 2B
peroxisome biogenesis disorder 3B
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Perrault syndrome +
PHARC syndrome
photosensitive trichothiodystrophy 1
photosensitive trichothiodystrophy 2
photosensitive trichothiodystrophy 3
Pierson syndrome
Pitt-Hopkins-like syndrome 2
PLACK syndrome
plasminogen deficiency type I
platelet-type bleeding disorder 10
platelet-type bleeding disorder 11
platelet-type bleeding disorder 18
platelet-type bleeding disorder 19
platelet-type bleeding disorder 8
poikiloderma with neutropenia
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia type 11
pontocerebellar hypoplasia type 12
pontocerebellar hypoplasia type 13
pontocerebellar hypoplasia type 14
pontocerebellar hypoplasia type 15
pontocerebellar hypoplasia type 16
pontocerebellar hypoplasia type 1A
pontocerebellar hypoplasia type 1B
pontocerebellar hypoplasia type 1C
pontocerebellar hypoplasia type 1D
pontocerebellar hypoplasia type 1E
pontocerebellar hypoplasia type 1F
pontocerebellar hypoplasia type 2A
pontocerebellar hypoplasia type 2B
pontocerebellar hypoplasia type 2C
pontocerebellar hypoplasia type 2D
pontocerebellar hypoplasia type 2E
pontocerebellar hypoplasia type 2F
poor metabolism of thiopurines +
postaxial acrofacial dysostosis
preaxial polydactyly I
primary autosomal recessive microcephaly +
primary ciliary dyskinesia 38
primary ciliary dyskinesia 39
primary ciliary dyskinesia 40
primary ciliary dyskinesia 41
primary ciliary dyskinesia 42
primary ciliary dyskinesia 44
primary ciliary dyskinesia 45
primary coenzyme Q10 deficiency 9
primary ovarian insufficiency 10
primary ovarian insufficiency 12
primary ovarian insufficiency 13
primary ovarian insufficiency 14
primary ovarian insufficiency 15
primary ovarian insufficiency 18
primary ovarian insufficiency 19
primary ovarian insufficiency 8
primary ovarian insufficiency 9
progressive familial intrahepatic cholestasis 1
progressive familial intrahepatic cholestasis 2
progressive familial intrahepatic cholestasis 3
progressive familial intrahepatic cholestasis 4
progressive familial intrahepatic cholestasis 5
progressive leukoencephalopathy with ovarian failure
progressive myoclonus epilepsy 10
progressive myoclonus epilepsy 1A
progressive myoclonus epilepsy 1B
progressive myoclonus epilepsy 3
progressive myoclonus epilepsy 4
progressive myoclonus epilepsy 6
progressive myoclonus epilepsy 8
progressive myoclonus epilepsy 9
progressive pseudorheumatoid arthropathy of childhood
prolidase deficiency
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
proprotein convertase 1/3 deficiency
proteasome-associated autoinflammatory syndrome 1
proteasome-associated autoinflammatory syndrome 3
proteosome-associated autoinflammatory syndrome 4
proteosome-associated autoinflammatory syndrome 5
prothrombin deficiency
prune belly syndrome
pseudo-TORCH syndrome 1
pseudoxanthoma elasticum
pulmonary venoocclusive disease 2
purine nucleoside phosphorylase deficiency
pycnodysostosis
pyridoxine-dependent epilepsy +
pyruvate kinase deficiency of red cells
rapadilino syndrome
recessive dystrophic epidermolysis bullosa
restrictive dermopathy 1
reticular dysgenesis
retinal cone dystrophy 3B
retinal dystrophy with leukodystrophy
retinitis pigmentosa 1
retinitis pigmentosa 1
retinitis pigmentosa 10
retinitis pigmentosa 11
retinitis pigmentosa 12
retinitis pigmentosa 12
retinitis pigmentosa 13
retinitis pigmentosa 14
retinitis pigmentosa 14
retinitis pigmentosa 17
retinitis pigmentosa 18
retinitis pigmentosa 19
retinitis pigmentosa 19
retinitis pigmentosa 2
retinitis pigmentosa 20
retinitis pigmentosa 20
retinitis pigmentosa 22
retinitis pigmentosa 23
retinitis pigmentosa 24
retinitis pigmentosa 25
retinitis pigmentosa 25
retinitis pigmentosa 26
retinitis pigmentosa 26
retinitis pigmentosa 27
retinitis pigmentosa 28
retinitis pigmentosa 28
retinitis pigmentosa 29
retinitis pigmentosa 29
retinitis pigmentosa 3
retinitis pigmentosa 30
retinitis pigmentosa 31
retinitis pigmentosa 32
retinitis pigmentosa 33
retinitis pigmentosa 34
retinitis pigmentosa 35
retinitis pigmentosa 35
retinitis pigmentosa 36
retinitis pigmentosa 37
retinitis pigmentosa 37
retinitis pigmentosa 38
retinitis pigmentosa 38
retinitis pigmentosa 39
retinitis pigmentosa 4
retinitis pigmentosa 4
retinitis pigmentosa 40
retinitis pigmentosa 40
retinitis pigmentosa 41
retinitis pigmentosa 41
retinitis pigmentosa 42
retinitis pigmentosa 43
retinitis pigmentosa 44
retinitis pigmentosa 45
retinitis pigmentosa 45
retinitis pigmentosa 46
retinitis pigmentosa 47
retinitis pigmentosa 48
retinitis pigmentosa 49
retinitis pigmentosa 50
retinitis pigmentosa 50
retinitis pigmentosa 51
retinitis pigmentosa 54
retinitis pigmentosa 55
retinitis pigmentosa 56
retinitis pigmentosa 56
retinitis pigmentosa 57
retinitis pigmentosa 57
retinitis pigmentosa 58
retinitis pigmentosa 59
retinitis pigmentosa 59
retinitis pigmentosa 6
retinitis pigmentosa 60
retinitis pigmentosa 61
retinitis pigmentosa 63
retinitis pigmentosa 66
retinitis pigmentosa 67
retinitis pigmentosa 68
retinitis pigmentosa 68
retinitis pigmentosa 69
retinitis pigmentosa 69
retinitis pigmentosa 7
retinitis pigmentosa 7
retinitis pigmentosa 70
retinitis pigmentosa 71
retinitis pigmentosa 71
retinitis pigmentosa 72
retinitis pigmentosa 72
retinitis pigmentosa 73
retinitis pigmentosa 73
retinitis pigmentosa 74
retinitis pigmentosa 74
retinitis pigmentosa 75
retinitis pigmentosa 75
retinitis pigmentosa 77
retinitis pigmentosa 77
retinitis pigmentosa 81
retinitis pigmentosa 81
retinitis pigmentosa 83
retinitis pigmentosa 84
retinitis pigmentosa 84
retinitis pigmentosa 85
retinitis pigmentosa 85
retinitis pigmentosa 86
retinitis pigmentosa 87
retinitis pigmentosa 88
retinitis pigmentosa 88
retinitis pigmentosa 89
retinitis pigmentosa 9
retinitis pigmentosa 90
retinitis pigmentosa 90
retinitis pigmentosa with or without situs inversus
retinitis pigmentosa with or without situs inversus
retinitis pigmentosa Y-linked
rhizomelic chondrodysplasia punctata +
RIDDLE syndrome
right atrial isomerism
rigid spine muscular dystrophy 1
Ritscher-Schinzel syndrome 1
RNASET2-deficient cystic leukoencephalopathy
Roberts syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Ruijs-Aalfs syndrome
salt and pepper syndrome
Sandestig-Stefanova syndrome
sarcosinemia
Schimke immuno-osseous dysplasia
Schindler disease +
Schinzel type phocomelia
Schwartz-Jampel syndrome 1
sclerosteosis 1
sclerosteosis 2
Seckel syndrome +
Sengers syndrome
Senior-Loken syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
severe combined immunodeficiency with sensitivity to ionizing radiation
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
severe congenital neutropenia 3
severe congenital neutropenia 4
severe congenital neutropenia 5
severe congenital neutropenia 6
severe congenital neutropenia 7
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
short-rib thoracic dysplasia 10 with or without polydactyly
short-rib thoracic dysplasia 11 with or without polydactyly
short-rib thoracic dysplasia 13 with or without polydactyly
short-rib thoracic dysplasia 14 with polydactyly
short-rib thoracic dysplasia 18 with polydactyly
short-rib thoracic dysplasia 19 with or without polydactyly
short-rib thoracic dysplasia 6 with or without polydactyly
short-rib thoracic dysplasia 7 with or without polydactyly
short-rib thoracic dysplasia 8 with or without polydactyly
short-rib thoracic dysplasia 9 with or without polydactyly
sickle cell anemia
sideroblastic anemia 5
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silverman-Handmaker type dyssegmental dysplasia
sitosterolemia 1
sitosterolemia 2
Sjogren-Larsson syndrome
SOST-related sclerosing bone dysplasia
Sotos syndrome 3
spastic ataxia 2
spastic ataxia 3
spastic ataxia 4
spastic ataxia 5
spastic ataxia 8
spastic quadriplegic cerebral palsy 3
spermatogenic failure 13
spermatogenic failure 14
spermatogenic failure 15
spermatogenic failure 16
spermatogenic failure 17
spermatogenic failure 18
spermatogenic failure 19
spermatogenic failure 20
spermatogenic failure 21
spermatogenic failure 22
spermatogenic failure 23
spermatogenic failure 24
spermatogenic failure 25
spermatogenic failure 26
spermatogenic failure 27
spermatogenic failure 28
spermatogenic failure 29
spermatogenic failure 30
spermatogenic failure 31
spermatogenic failure 33
spermatogenic failure 34
spermatogenic failure 35
spermatogenic failure 37
spermatogenic failure 38
spermatogenic failure 39
spermatogenic failure 40
spermatogenic failure 41
spermatogenic failure 42
spermatogenic failure 43
spermatogenic failure 44
spermatogenic failure 45
spermatogenic failure 46
spermatogenic failure 47
spermatogenic failure 48
spermatogenic failure 49
spermatogenic failure 5
spermatogenic failure 50
spermatogenic failure 51
spermatogenic failure 52
spermatogenic failure 53
spermatogenic failure 54
spermatogenic failure 55
spermatogenic failure 56
spermatogenic failure 57
spermatogenic failure 58
spermatogenic failure 59
spermatogenic failure 6
spermatogenic failure 60
spermatogenic failure 61
spermatogenic failure 62
spermatogenic failure 63
spermatogenic failure 64
spermatogenic failure 65
spermatogenic failure 66
spermatogenic failure 67
spermatogenic failure 68
spermatogenic failure 69
spermatogenic failure 7
spermatogenic failure 70
spermatogenic failure 71
spermatogenic failure 72
spermatogenic failure 73
spermatogenic failure 74
spermatogenic failure 75
spermatogenic failure 76
spermatogenic failure 77
spermatogenic failure 78
spermatogenic failure 79
spermatogenic failure 80
spermatogenic failure 81
spermatogenic failure 82
spermatogenic failure 83
spermatogenic failure 84
spermatogenic failure 85
spermatogenic failure 86
spermatogenic failure 87
spermatogenic failure 88
spermatogenic failure 89
spermatogenic failure 9
spermatogenic failure 90
spermatogenic failure 91
spermatogenic failure 92
spermatogenic failure 93
spermatogenic failure 94
spermatogenic failure 95
spinal muscular atrophy with progressive myoclonic epilepsy
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 6
SPOAN syndrome
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
spondylocostal dysostosis 2
spondylocostal dysostosis 3
spondylocostal dysostosis 4
spondylocostal dysostosis 6
spondyloepimetaphyseal dysplasia with joint laxity type 1
spondyloepimetaphyseal dysplasia with joint laxity type 3
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
spondyloepiphyseal dysplasia Kondo-Fu type
spondyloepiphyseal dysplasia tarda with characteristic facies
spondyloepiphyseal dysplasia tarda with intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
spondylometaphyseal dysplasia Sedaghatian type
spondylometaphyseal dysplasia with cone-rod dystrophy
spondylometaphyseal dysplasia with corneal dystrophy
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic microphthalmia 9
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TANGO2-related metabolic encephalopathy and arrythmias
temtamy preaxial brachydactyly syndrome
Temtamy syndrome
tetraamelia syndrome 1
tetraamelia syndrome 2
thalassemia +
thiamine-responsive megaloblastic anemia syndrome
thrombocytopenia-absent radius syndrome
thyroid dyshormonogenesis 1
thyroid dyshormonogenesis 2A
thyroid dyshormonogenesis 3
thyroid dyshormonogenesis 4
thyroid dyshormonogenesis 5
thyroid dyshormonogenesis 6
torsion dystonia 17
torsion dystonia 2
transient bullous dermolysis of the newborn
transient infantile liver failure
Treacher Collins syndrome 2
Treacher Collins syndrome 3
trichohepatoenteric syndrome +
trimethylaminuria
triple-A syndrome
Troyer syndrome
Tukel syndrome
Ullrich congenital muscular dystrophy +
urocanase deficiency
urofacial syndrome
Usher syndrome +
UV-sensitive syndrome
Van den Ende-Gupta syndrome
Van Maldergem syndrome +
ventriculomegaly - cystic kidney disease
Vici syndrome
visual impairment and progressive phthisis bulbi
vitamin D-dependent rickets type 1A
vitamin D-dependent rickets type 1B
vitamin D-dependent rickets type 2A
Walker-Warburg syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Werner syndrome
WHIM syndrome 2
Wiedemann-Rautenstrauch syndrome
Wolcott-Rallison syndrome
Wolfram syndrome 1
Wolfram syndrome 2
Woodhouse-Sakati syndrome
wrinkly skin syndrome
xanthinuria +
xeroderma pigmentosum +
XFE progeroid syndrome
Yoon-Bellen neurodevelopmental syndrome
Yunis-Varon syndrome
Zaki syndrome
Zellweger syndrome +