| Diseases |
Alias |
|
| Spastic Paraplegia 9a, Autosomal Dominant |
|
Hereditary Spastic Paraplegia 9a
|
SPG9A
|
|
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
|
Ad-Spg9a
|
|
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome
|
Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
|
|
Autosomal Dominant Complex Spastic Paraplegia Type 9a
|
Autosomal Dominant Spastic Paraplegia 9a
|
|
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
|
|
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux
|
Autosomal Dominant Spastic Paraplegia Type 9a
|
|
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
|
|
Spastic Paraplegia 9, Autosomal Dominant
|
|
|
| Spastic Paraplegia 9b, Autosomal Recessive |
|
SPG9B
|
Autosomal Recessive Complex Spastic Paraplegia Type 9b
|
|
Hereditary Spastic Paraplegia 9b
|
Autosomal Recessive Spastic Paraplegia 9b
|
|
Autosomal Recessive Spastic Paraplegia Type 9b
|
Ar-Spg9b
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
ARCL3A
|
De Barsy Syndrome A
|
|
Aldh18a1-Related De Barsy Syndrome
|
Progeroid Syndrome Of De Barsy
|
|
Autosomal Recessive Cutis Laxa Type Iiia
|
P5cs Deficiency
|
|
De Barsy Syndrome
|
Cutis Laxa, Corneal Clouding, And Mental Retardation
|
|
Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency
|
Neurocutaneous Syndrome, Bicknell Type
|
|
Cutis Laxa Corneal Clouding Mental Retardation
|
Progeroid Syndrome De Barsy Type
|
|
Cutis Laxa, Autosomal Recessive, 3a
|
Cutis Laxa Autosomal Recessive Type Iiia
|
|
Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin
|
Neurocutaneous Syndrome Bicknell Type
|
|
Corneal Clouding Cutis Laxa Mental Retardation
|
|
|
| Cutis Laxa, Autosomal Dominant 3 |
|
ADCL3
|
Autosomal Dominant Cutis Laxa 3
|
|
Cutis Laxa, Autosomal Dominant, 3
|
|
|
| Autosomal Recessive Cutis Laxa Type Iii |
|
De Barsy Syndrome
|
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome
|
|
Progeroid Syndrome, De Barsy Type
|
Corneal Clouding, Cutis Laxa And Intellectual Disability
|
|
Cutis Laxa Growth Deficiency Syndrome
|
Progeroid Syndrome Of De Barsy
|
|
|
| Spastic Paraplegia 9 |
|
Autosomal Dominant Spastic Paraparesis
|
Bilateral Cataracts, Gastroesophageal Reflux, And Spastic Paraparesis With Amyotrophy
|
|
Cataracts, Motor Neuronopathy, Short Stature And Skeletal Abnormalities
|
Spg9
|
|
Spastic Paraplegia 9, Autosomal Dominant
|
|
|
| Autosomal Dominant Spastic Paraplegia Type 9b |
|
|
| Cutis Laxa, Autosomal Dominant 1 |
|
Cutis Laxa, Autosomal Dominant
|
Autosomal Dominant Cutis Laxa
|
|
ADCL1
|
Adcl
|
|
Autosomal Dominant Cutis Laxa 1
|
Cutis Laxa, Autosomal Dominant, 1
|
|
Cutis Laxa, Autosomal Dominant, Type 1
|
|
|
| Spastic Paraplegia 5a, Autosomal Recessive |
|
SPG5A
|
Hereditary Spastic Paraplegia 5a
|
|
Autosomal Recessive Spastic Paraplegia 5a
|
Autosomal Recessive Spastic Paraplegia Type 5a
|
|
Spastic Paraplegia 5a
|
Spastic Paraplegia Type 5a
|
|
Spastic Paraplegia Type 5a, Recessive
|
Autosomal Recessive Spastic Paraplegia
|
|
Spastic Paraplegia-5a
|
Paraplegia, Spastic, Autosomal Recessive, Type 5a
|
|
|
| Cutis Laxa |
|
Generalized Elastolysis
|
Loose Skin
|
|
Dermatolysis
|
Dermatomegaly
|
|
Cutis Laxa Syndrome
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| Gastroesophageal Reflux |
|
Gastroesophageal Reflux Disease
|
Gerd
|
|
GER
|
Gastroesophageal Reflux, Pediatric
|
|
Acid Reflux
|
Gastresophageal Reflux
|
|
Gastro-Esophageal Reflux
|
Gerd - Gastro-Esophageal Reflux Disease
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
ARCL3B
|
De Barsy Syndrome B
|
|
Pycr1-Related De Barsy Syndrome
|
Autosomal Recessive Cutis Laxa Type Iiib
|
|
Pycr1 Deficiency
|
Pyrroline-5-Carboxylate Reductase 1 Deficiency
|
|
Cutis Laxa, Autosomal Recessive, 3b
|
Cutis Laxa Autosomal Recessive Type Iiib
|
|
Cutis Laxa, Autosomal Recessive, Type 3b
|
|
|
| Spastic Paraparesis |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
ARCL2B
|
Cutis Laxa With Progeroid Features
|
|
Autosomal Recessive Cutis Laxa Type 2b
|
Autosomal Recessive Cutis Laxa Type Iib
|
|
Arcl2, Progeroid Type
|
Cutis Laxa, Autosomal Recessive Type 2b
|
|
Autosomal Recessive Cutis Laxa Type 2, Progeroid Type
|
Cutis Laxa, Autosomal Recessive, 2b
|
|
Cl Type Iib
|
Cutis Laxa Autosomal Recessive Type Iib
|
|
Cutis Laxa, Autosomal Recessive, Type 2b
|
|
|
| Spastic Paraplegia 19, Autosomal Dominant |
|
SPG19
|
Hereditary Spastic Paraplegia 19
|
|
Autosomal Dominant Spastic Paraplegia Type 19
|
Autosomal Dominant Spastic Paraplegia 19
|
|
Spastic Paraplegia 19
|
Spastic Paraplegia-19
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
ARCL2D
|
Autosomal Recessive Cutis Laxa Type Iid
|
|
Autosomal Recessive Cutis Laxa Type 2d
|
Cutis Laxa, Autosomal Recessive, 2d
|
|
|
| Hyperprolinemia |
|
Proline Oxidase Deficiency
|
Hyperprolinemia Type 1
|
|
Proline Hydrogenase Deficiency
|
Prolinemia
|
|
Pyrroline Carboxylate Dehydrogenase Deficiency
|
Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Proline Dehydrogenase Deficiency
|
Hyperprolinemia Type 2
|
|
|
| Spastic Paraplegia 34, X-Linked |
|
SPG34
|
Hereditary Spastic Paraplegia 34
|
|
X-Linked Spastic Paraplegia Type 34
|
X-Linked Spastic Paraplegia 34
|
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
SPG14
|
Hereditary Spastic Paraplegia 14
|
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
|
Spastic Paraplegia 14
|
|
|
| Mend Syndrome |
|
Male Ebp Disorder With Neurological Defects
|
MEND
|
|
Male Ebp Disorder With Neurologic Defects
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
ARCL2A
|
Cutis Laxa With Joint Laxity And Retarded Development
|
|
Cutis Laxa With Growth And Developmental Delay
|
Cutis Laxa, Debre Type
|
|
Cutis Laxa With Bone Dystrophy
|
Arcl2
|
|
Cutis Laxa With Congenital Disorder Of Glycosylation
|
Autosomal Recessive Cutis Laxa Type Iia
|
|
Cutis Laxa, Autosomal Recessive Type 2a
|
Cutis Laxa, Autosomal Recessive, 2a
|
|
Cl Type Iia
|
Cutis Laxa Autosomal Recessive Type Iia
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Spastic Paraplegia 36, Autosomal Dominant |
|
SPG36
|
Hereditary Spastic Paraplegia 36
|
|
Autosomal Dominant Spastic Paraplegia Type 36
|
Autosomal Dominant Spastic Paraplegia 36
|
|
|
| Gamma-Amino Butyric Acid Metabolism Disorder |
|
Disorder Of Gamma-Aminobutyric Acid Metabolism
|
Disorder Of Gaba Metabolism
|
|
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
|
|
|
| Geroderma Osteodysplasticum |
|
Gerodermia Osteodysplastica
|
Geroderma Osteodysplastica
|
|
GO
|
Walt Disney Dwarfism
|
|
Type Of Gerodermia Osteodysplastica
|
|
|
| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
|
Arcl2, Classic Type
|
Arcl2, Debre Type
|
|
Autosomal Recessive Cutis Laxa Type 2, Classic Type
|
Autosomal Recessive Cutis Laxa Type 2, Debre Type
|
|
|
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
4-Hydroxybutyric Aciduria
|
Ssadh Deficiency
|
|
Gamma-Hydroxybutyric Aciduria
|
Gaba Metabolic Defect
|
|
SSADHD
|
Ssadh
|
|
Succinate-Semialdehyde Dehydrogenase Deficiency
|
Gamma-Hydroxybutyricaciduria
|
|
4-Hydroxybutyricaciduria
|
Gamma-Hydroxybutyric Acidemia
|
|
Succinate Semialdehyde Dehydrogenase Deficiency
|
|
|
| Leukodystrophy, Hypomyelinating, 10 |
|
Hypomyelinating Leukodystrophy 10
|
HLD10
|
|
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
|
Leukodystrophy, Hypomyelinating, Type 10
|
|
|
| Hyperprolinemia, Type Ii |
|
Hyperprolinemia Type 2
|
HYRPRO2
|
|
Hpii
|
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia Type Ii
|
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Type 2 Hyperprolinemia
|
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia 2
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
ARCL1A
|
Cutis Laxa, Autosomal Recessive
|
|
Autosomal Recessive Cutis Laxa Type Ia
|
Cutis Laxa, Autosomal Recessive, Type 1a
|
|
Arcl1
|
Cutis Laxa, Autosomal Recessive, 1a
|
|
Cl Type I
|
Cutis Laxa Autosomal Recessive Type I
|
|
Cutis Laxa Autosomal Recessive Type Ia
|
Cutis Laxa, Autosomal Recessive, Type I
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
ARCL1B
|
Cutis Laxa, Autosomal Recessive, Type 1b
|
|
Autosomal Recessive Cutis Laxa Type Ib
|
Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency
|
|
Cutis Laxa, Autosomal Recessive, 1b
|
Cutis Laxa Autosomal Recessive Type Ib
|
|
|
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
|
ARCL1C
|
|
Urban-Rifkin-Davis Syndrome
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
|
|
URDS
|
Autosomal Recessive Cutis Laxa Type Ic
|
|
Autosomal Recessive Cutis Laxa Type 1c
|
Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
|
|
|
| Wrinkly Skin Syndrome |
|
WSS
|
Wrinkled Skin Syndrome
|
|
|
| Autosomal Recessive Cutis Laxa Type I |
|
Autosomal Recessive Cutis Laxa Type 1
|
Cutis Laxa, Type 1
|
|
Cutis Laxa, Autosomal Recessive, Type I
|
Cutis Laxa, Autosomal Recessive Type 1
|
|
Cutis Laxa, Autosomal Recessive
|
Arcl1
|
|
Autosomal Recessive Cutis Laxa With Severe Systemic Involvement
|
Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
|
|
|
| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
|
Congenital Disorder Of Glycosylation Type Iie
|
IMD47
|
|
Cdg2s
|
Cdg Iis
|
|
Cdgiis
|
Immunodeficiency And Hepatopathy With Or Without Neurologic Features
|
|
Congenital Disorder Of Glycosylation, Type Ii
|
CDG1I
|
|
Congenital Disorder Of Glycosylation, Type Iie
|
Cdg Iie
|
|
Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
|
Cdg Ii
|
Cdgii
|
|
Cdgiie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
|
Cdg Syndrome Type Iie
|
Congenital Disorder Of Glycosylation Ii
|
|
Congenital Disorder Of Glycosylation 1i
|
Cdg-Iie
|
|
Alg2-Cdg
|
Cdg-Ii
|
|
Glycosylation, Congenital Disorder Of, Type Ii
|
Cdgiide
|
|
Congenital Disorder Of Glycosylation Type Iis
|
Cog7-Cdg
|
|
Cdg Syndrome Type Ii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
|
Congenital Disorder Of Glycosylation Type 1i
|
Mannosyltransferase 2 Deficiency
|
|
Congenital Disorder Of Glycosylation 2e
|
Congenital Disorder Of Glycosylation 2s
|
|
Congenital Disorders Of Glycosylation Type Ii
|
Glycosylation, Congenital Disorder Of, Type Iie
|
|
Immunodeficiency, Type 47
|
Congenital Disorder Of Glycosylation Type 2a
|
|
|
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hhh Syndrome
|
Ornithine Translocase Deficiency
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome
|
HHHS
|
|
Hhh
|
Triple H Syndrome
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
|
Ornithine Translocase Deficiency Syndrome
|
|
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome
|
Ornt1 Deficiency
|
|
Ornithine Carrier Deficiency
|
Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
|
|
|
| Spastic Paraplegia 64, Autosomal Recessive |
|
SPG64
|
Hereditary Spastic Paraplegia 64
|
|
Autosomal Recessive Spastic Paraplegia Type 64
|
Autosomal Recessive Spastic Paraplegia 64
|
|
Paraplegia, Spastic, Type 64, Autosomal Recessive
|
|
|
| Spastic Paraplegia 8, Autosomal Dominant |
|
SPG8
|
Hereditary Spastic Paraplegia 8
|
|
Autosomal Dominant Spastic Paraplegia Type 8
|
Autosomal Dominant Spastic Paraplegia 8
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 8
|
|
|
| Occipital Horn Syndrome |
|
OHS
|
Eds Ix
|
|
Cutis Laxa X-Linked
|
Cutis Laxa, X-Linked
|
|
Cutis Laxa, X-Linked, Formerly
|
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
|
|
Eds Ix, Formerly
|
Eds9, Formerly
|
|
Ehlers-Danlos Syndrome Type 9
|
Ehlers-Danlos Syndrome Type Ix
|
|
X-Linked Cutis Laxa
|
Ehlers-Danlos Syndrome, Occipital Horn Type
|
|
Eds9
|
Ehlers-Danlos Syndrome Occipital Horn Type
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Gyrate Atrophy Of Choroid And Retina |
|
Gyrate Atrophy
|
Ornithine Aminotransferase Deficiency
|
|
HOGA
|
Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
|
Oat Deficiency
|
Okt Deficiency
|
|
Hyperornithinemia
|
Ornithine Keto Acid Aminotransferase Deficiency
|
|
Ornithine-Delta-Aminotransferase Deficiency
|
Gyrate Atrophy Of The Choroid And Retina
|
|
GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
|
|
Gyrate Atrophy Of The Retina
|
Ornithinemia With Gyrate Atrophy
|
|
Ornithinemia
|
Fuchs Atrophia Gyrata Chorioideae Et Retinae
|
|
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome
|
Gyrate Atrophy Of The Choroid And/Or Retina
|
|
Girate Atrophy Of The Retina
|
Ornithine Ketoacid Aminotransferase Deficiency
|
|
Atrophy, Gyrate, Of Choroid And Retina
|
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
|
Hereditary Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
|
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
|
