| Diseases |
Alias |
|
| Laurence-Moon Syndrome |
|
LNMS
|
Laurence-Moon-Biedl Syndrome
|
|
|
| Oliver-Mcfarlane Syndrome |
|
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
|
OMCS
|
|
Long Eyelashes-Intellectual Disability Syndrome
|
Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina
|
|
Eyelashes, Long, With Mental Retardation
|
Eyelashes Long Mental Retardation
|
|
Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration
|
Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina
|
|
Eyelashes, Long With Intellectual Disability
|
Oliver Mcfarlane Syndrome
|
|
Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature
|
Trichomegaly, Retina Pigmentary Degeneration, Dwarfism
|
|
Trichomegaly Retina Pigmentary Degeneration Dwarfism
|
|
|
| Boucher-Neuhauser Syndrome |
|
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
|
BNHS
|
|
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy
|
Boucher-Neuhäuser Syndrome
|
|
Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism
|
Ataxia - Hypogonadism - Choroidal Dystrophy
|
|
Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism
|
Bns
|
|
Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome
|
Boucher Neuhauser Syndrome
|
|
|
| Spastic Paraplegia 39, Autosomal Recessive |
|
SPG39
|
Ntemnd
|
|
Hereditary Spastic Paraplegia 39
|
Nte-Related Motor Neuron Disorder
|
|
Autosomal Recessive Spastic Paraplegia Type 39
|
Spastic Paraplegia Due To Neuropathy Target Esterase Mutation
|
|
Spastic Paraplegia Due To Nte Mutation
|
Spastic Paraplegia 39
|
|
Autosomal Recessive Spastic Paraplegia 39
|
Nte Related Motor Neuron Disorder
|
|
Paraplegia, Spastic, Type 39
|
|
|
| Spastic Ataxia |
|
|
| Gordon Holmes Syndrome |
|
Cerebellar Ataxia And Hypogonadotropic Hypogonadism
|
Lhrh Deficiency And Ataxia
|
|
Cerebellar Ataxia-Hypogonadism Syndrome
|
GDHS
|
|
Cahh
|
Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
|
|
Gordon-Holmes Syndrome
|
Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
|
|
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia
|
Cerebellar Ataxia - Hypogonadism
|
|
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia
|
Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
|
|
|
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Kallmann Syndrome 1
|
Dysplasia Olfactogenitalis Of De Morsier
|
|
Kal1
|
HH1
|
|
Kms
|
Hypogonadotropic Hypogonadism And Anosmia
|
|
Hha
|
Anosmic Hypogonadism
|
|
Kallmann Syndrome, X-Linked
|
Kallmann Syndrome, Type 1, X-Linked
|
|
Kallmann Syndrome, Type 1, X Linked
|
Hypogonadism, Hypogonadotropic, Type 1, With/Without Anosmia )
|
|
Kallmann Syndrome
|
|
|
| Kallmann Syndrome |
|
Hypogonadism With Anosmia
|
Kallman'S Syndrome
|
|
Anosmic Hypogonadism
|
Anosmic Idiopathic Hypogonadotropic Hypogonadism
|
|
Hypogonadotropic Hypogonadism And Anosmia
|
Hypogonadotropic Hypogonadism-Anosmia Syndrome
|
|
Olfacto-Genital Pathological Sequence
|
Familial Hypogonadism With Anosmia
|
|
Kallman Syndrome
|
Dysplasia Olfactogenitalis Of De Morsier
|
|
Kallmann'S Syndrome
|
Congenital Hypogonadotropic Hypogonadism With Anosmia
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Sick Building Syndrome |
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Polyneuropathy |
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Idiopathic Hypogonadotropic Hypogonadism
|
HH7
|
|
Hypogonadism, Isolated Hypogonadotropic
|
Ihh
|
|
Hypogonadism, Isolated, Hypogonadotropic
|
Hypogonadotropic Hypogonadism
|
|
Isolated Hypogonadotropic Hypogonadism
|
Hypogonadotropic Hypogonadism 7 Without Anosmia
|
|
Congenital Hypogonadotropic Hypogonadism Normosmic
|
Hh
|
|
Klinefelter Syndrome
|
Isolated Gonadotropin Deficiency
|
|
|
| Trichomegaly |
|
Long Eyelashes
|
TCMGLY
|
|
Goldstein Hutt Syndrome
|
Eyelashes, Long
|
|
Movie Lashes
|
|
|
| Hypogonadotropic Hypogonadism |
|
Klinefelter Syndrome
|
Klinefelter'S Syndrome
|
|
Xxy Syndrome
|
Xxy Trisomy
|
|
Hypogonadotropism
|
47, Xxy
|
|
Congenital Idiopathic Hypogonadotropic Hypogonadism
|
Isolated Congenital Gonadotropin Deficiency
|
|
47,Xxy Syndrome
|
47, Xxy Syndrome
|
|
Klinefelters Syndrome
|
Hypogonadism
|
|
Klinefelter Syndrome In Males
|
Klinefelter Syndrome, Unspecified
|
|
Klinefelter Syndrome Karyotype 47, Xxy
|
|
|
| Hypogonadism |
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Spastic Paraplegia 28, Autosomal Recessive |
|
SPG28
|
Hereditary Spastic Paraplegia 28
|
|
Autosomal Recessive Spastic Paraplegia Type 28
|
Autosomal Recessive Spastic Paraplegia 28
|
|
Paraplegia, Spastic, Type 28, Autosomal Recessive
|
|
|
| Spastic Paraplegia 20, Autosomal Recessive |
|
Troyer Syndrome
|
SPG20
|
|
Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting
|
Spastic Paraplegia, Autosomal Recessive, Troyer Type
|
|
Autosomal Recessive Spastic Paraplegia Type 20
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
|
Spastic Paraplegia 20
|
Cross-Mckusick Syndrome
|
|
Autosomal Recessive Spastic Paraplegia 20
|
Autosomal Recessive Spastic Paraplegia Troyer Type
|
|
Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting
|
Hereditary Spastic Paraplegia 20
|
|
Spastic Paraplegia Type 20
|
Hereditary Spastic Paraplegia
|
|
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome
|
Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
|
|
Spastic Paraplegia Autosomal Recessive Troyer Type
|
Trs
|
|
Spastic Paraplegia Hereditary Autosomal Recessive
|
Spastic Paraplegia, Hereditary
|
|
|
| Glandular Tularemia |
|
|
| Spastic Paraplegia 43, Autosomal Recessive |
|
SPG43
|
Hereditary Spastic Paraplegia 43
|
|
Autosomal Recessive Spastic Paraplegia Type 43
|
Autosomal Recessive Spastic Paraplegia 43
|
|
Paraplegia, Spastic, Type 43, Autosomal Recessive
|
|
|
| Spastic Paraplegia 78, Autosomal Recessive |
|
SPG78
|
Autosomal Recessive Spastic Paraplegia Type 78
|
|
Hereditary Spastic Paraplegia 78
|
Spastic Paraplegia 78 Autosomal Recessive
|
|
Doid:0112348
|
|
|
| Spastic Paraplegia 75, Autosomal Recessive |
|
SPG75
|
Hereditary Spastic Paraplegia 75
|
|
Autosomal Recessive Spastic Paraplegia Type 75
|
Autosomal Recessive Spastic Paraplegia 75
|
|
|
| Spastic Paraplegia 73, Autosomal Dominant |
|
SPG73
|
Hereditary Spastic Paraplegia 73
|
|
Autosomal Dominant Spastic Paraplegia Type 73
|
Autosomal Dominant Spastic Paraplegia 73
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 73
|
|
|
| Spastic Paraplegia 54, Autosomal Recessive |
|
SPG54
|
Hereditary Spastic Paraplegia 54
|
|
Autosomal Recessive Spastic Paraplegia Type 54
|
Autosomal Recessive Spastic Paraplegia 54
|
|
Paraplegia, Spastic, Type 54, Autosomal Recessive
|
|
|
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Pharc Syndrome
|
PHARC
|
|
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
|
|
Peripheral Neuropathy, Fiskerstrand Type
|
Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
SCAR24
|
Autosomal Recessive Spinocerebellar Ataxia 24
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 24
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
|
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Spastic Paraplegia 42, Autosomal Dominant |
|
SPG42
|
Hereditary Spastic Paraplegia 42
|
|
Autosomal Dominant Spastic Paraplegia Type 42
|
Autosomal Dominant Spastic Paraplegia 42
|
|
Paraplegia, Spastic, Type 42, Autosomal Dominant
|
|
|
| Spastic Paraplegia 79, Autosomal Recessive |
|
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome
|
SPG79
|
|
Neurodegeneration With Optic Atrophy, Childhood-Onset
|
Ndgoa
|
|
Hereditary Spastic Paraplegia 79
|
Spastic Paraplegia 79 Autosomal Recessive
|
|
Doid:0112344
|
Neurodegeneration, With Optic Atrophy, Childhood-Onset
|
|
|
| Spastic Paraplegia 48, Autosomal Recessive |
|
SPG48
|
Hereditary Spastic Paraplegia 48
|
|
Autosomal Recessive Spastic Paraplegia Type 48
|
Autosomal Recessive Spastic Paraplegia 48
|
|
Paraplegia, Spastic, Type 48, Autosomal Recessive
|
|
|
| Hereditary Spastic Paraplegia 35 |
|
Autosomal Recessive Spastic Paraplegia Type 35
|
Spg35
|
|
Autosomal Recessive Spastic Paraplegia 35
|
Fahn
|
|
Fatty Acid Hydroxylase-Associated Neurodegeneration
|
Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
|
|
|
| Sjogren-Larsson Syndrome |
|
Sjögren-Larsson Syndrome
|
SLS
|
|
Faldh Deficiency
|
Fatty Aldehyde Dehydrogenase Deficiency
|
|
Fatty Acid Alcohol Oxidoreductase Deficiency
|
Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
|
|
Sjogren Larsson Syndrome
|
Fatty Alcohol:Nad+ Oxidoreductase Deficiency
|
|
Sjogren-Larsson'S Syndrome
|
Fadh Deficiency
|
|
Fao Deficiency
|
Congenital Icthyosis Mental Retardation Spasticity Syndrome
|
|
Ichthyosis Oligophrenia Syndrome
|
Sjoegren-Larsson Syndrome
|
|
|
| Retinal Degeneration |
|
|
| Spastic Paraplegia 2, X-Linked |
|
SPG2
|
Hereditary Spastic Paraplegia 2
|
|
Sppx2
|
Spastic Paraplegia Type 2
|
|
Spastic Paraplegia 2
|
Hereditary X-Linked Recessive Spastic Paraplegia
|
|
X-Linked Spastic Paraplegia 2
|
X Linked Recessive Hereditary Spastic Paraplegia
|
|
Spastic Gait Type 2
|
Spastic Paraparesis Type 2
|
|
X-Linked Spastic Paraplegia Type 2
|
Spastic Paraplegia Type 2, X-Linked
|
|
Spastic Paraplegia-2
|
Paraplegia, Spastic, Type 2
|
|
|
| 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
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
