| Diseases |
Alias |
|
| Greig Cephalopolysyndactyly Syndrome |
|
GCPS
|
Polysyndactyly With Peculiar Skull Shape
|
|
Polysyndactyly With Peculiars Skull Shape
|
Greig Syndrome
|
|
Cephalopolysyndactyly Syndrome
|
Greig Cephalo-Poly-Syndactyly Syndrome
|
|
Cephalopolysyndactyly, Greig Syndrome
|
Aarskog Syndrome
|
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinism Due To Glutamodehydrogenase Deficiency
|
HHF4
|
|
Familial Hyperinsulinemic Hypoglycemia 4
|
Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
|
|
Hyperinsulinism Due To Schad Deficiency
|
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
|
|
Congenital Hyperinsulinism
|
Schad Deficiency
|
|
Persistent Hyperinsulinemic Hypoglycemia Of Infancy
|
Phhi
|
|
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
|
|
|
| Herpes Simplex |
|
Herpes Simplex Infections
|
Herpesvirus Hominis Disease
|
|
Herpes Simplex Disease
|
Herpesviral Infection Due To Herpes Simplex
|
|
Infections Due To Simplex Virus
|
Herpes Nos
|
|
|
| Colorectal Cancer |
|
Colon Cancer
|
Colorectal Carcinoma
|
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
|
Carcinoma Of Colon
|
CRC
|
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
|
Colorectal Carcinomas
|
Colon Cancers
|
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| Gastrointestinal Carcinoma |
|
Gastrointestinal Neoplasms
|
|
|
| Spermatogenic Failure 11 |
|
|
| Amyloidosis, Familial Visceral |
|
Ostertag Type Amyloidosis
|
German Type Amyloidosis
|
|
Familial Renal Amyloidosis
|
Amyloidosis Viii
|
|
Amyloidosis, 3 Or More Types
|
Familial Visceral Amyloidosis
|
|
Familial Amyloid Nephropathy
|
Hereditary Amyloid Nephropathy
|
|
Amyloidosis, Familial Renal
|
Amyloidosis, Systemic Nonneuropathic
|
|
Amyloidosis Familial Visceral
|
Amyloidosis 8
|
|
Amyloidosis, Ostertag Type
|
Hereditary Amyloidosis With Primary Renal Involvement
|
|
Hereditary Renal Amyloidosis
|
Renal Amyloidosis
|
|
Amyloidosis, Renal
|
Systemic Nonneuropathic Amyloidosis
|
|
Amyloidosis Familial Renal
|
Amyloidosis Systemic Nonneuropathic
|
|
Hereditary Amyloidosis With Primary Renal Involement
|
AMYL8
|
|
Systemic Non-Neuropathic Amyloidosis
|
Amyloid Nephropathy
|
|
|
| Amelogenesis Imperfecta, Type Iiic |
|
AI3C
|
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive
|
|
Amelogenesis Imperfecta Type 3c
|
Amelogenesis Imperfecta, Type 3c
|
|
Amelogenesis Imperfecta Type Iiic
|
Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type
|
|
Amelogenesis Imperfecta 3c
|
|
|
| Retinitis Pigmentosa 46 |
|
RP46
|
Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related
|
|
Retinitis Pigmentosa Autosomal Recessive Idh3b-Related
|
Retinitis Pigmentosa, Type 46
|
|
|
| Colon Adenocarcinoma |
|
Adenocarcinoma Of Colon
|
Adenocarcinoma Of The Colon
|
|
Colonic Adenocarcinoma
|
|
|
| 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
|
|
|
| Advanced Sleep Phase Syndrome, Familial, 3 |
|
Advanced Sleep Phase Syndrome 3
|
FASPS3
|
|
Familial Advanced Sleep Phase Syndrome 3
|
Sleep Phase Syndrome, Advanced, Familial, Type 3
|
|
|
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Eec Syndrome
|
Rudiger Syndrome 1
|
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1
|
EEC1
|
|
Eec Syndrome 1
|
Eec Syndrome-1
|
|
Walker-Clodius Syndrome
|
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
|
|
Eec
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome
|
|
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
Ectrodactyly-Cleft Lip/Palate Syndrome
|
|
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate
|
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
|
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
|
Ectrodactyly-Cleft Lip-Palate Syndrome
|
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
|
|
|
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
OPA10
|
Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
|
|
Optic Atrophy 10
|
Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
|
|
|
| Rapp-Hodgkin Syndrome |
|
RHS
|
Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
|
|
Ectodermal Dysplasia, Rapp-Hodgkin Type
|
Rapp-Hodgkin Ectodermal Dysplasia Syndrome
|
|
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate
|
Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
|
|
Edrh
|
Rapp-Hodgkin Ectodermal Dysplasia
|
|
Orofacial Cleft 8
|
|
|
| Parkinson Disease 17 |
|
PARK17
|
Parkinson'S Disease 17
|
|
Autosomal Dominant Parkinson Disease 17
|
Parkinson Disease, Type 17
|
|
|
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
SCDO3
|
Spondylocostal Dysostosis, Autosomal Recessive 3
|
|
Spondylocostal Dysostosis 3
|
Autosomal Recessive Spondylocostal Dysostosis 3
|
|
Doid:0112361
|
Dysostosis, Spondylocostal, Autosomal Recessive, Type 3
|
|
Jarcho-Levin Syndrome
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
|
Costeff Syndrome
|
Mga3
|
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
|
MGCA3
|
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
|
Second Cranium Nerve Atrophy
|
|
|
| Inflammatory Bowel Disease |
|
Inflammatory Bowel Diseases
|
Bowel Disease, Inflammatory
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
| 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
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
