| Diseases |
Alias |
|
| Donnai-Barrow Syndrome |
|
Faciooculoacousticorenal Syndrome
|
Dbs/Foar Syndrome
|
|
Foar Syndrome
|
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
|
|
Facio-Oculo-Acoustico-Renal Syndrome
|
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome
|
Holmes-Schepens Syndrome
|
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness
|
DBS
|
|
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria
|
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
|
|
Donnai Barrow Syndrome
|
|
|
| Dent Disease 1 |
|
Dent Disease
|
Dent'S Disease
|
|
Dent Disease 2
|
Dent Disease Type 1
|
|
DENT1
|
Urolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis 2
|
Nphl2
|
|
Dent Syndrome
|
Dents Disease
|
|
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis
|
Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
|
|
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets
|
X-Linked Recessive Nephrolithiasis
|
|
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
|
Nephrolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis-Hypercalciuria X-Linked Recessive
|
Nephrolithiasis, X-Linked Recessive
|
|
Dent Disease, Type 1
|
|
|
| Cystinosis |
|
Cystine Storage Disease
|
Cystine Diathesis
|
|
Cystine Disease
|
Cystinoses
|
|
Protein Defect Of Cystin Transport
|
Cystin Transport, Protein Defect Of
|
|
Nephropathic Cystinosis
|
Protein Defect Of Cystine Transport
|
|
|
| Prolactinoma |
|
Prolactin-Producing Pituitary Gland Adenoma
|
Prolactin-Secreting Pituitary Adenoma
|
|
Forbes-Albright Syndrome
|
Lactotroph Adenoma
|
|
Prl-Secreting Pituitary Adenoma
|
Prloma
|
|
Pituitary Lactotrophic Adenoma
|
Familial Prolactinoma
|
|
Pituitary Adenoma, Prolactin-Secreting
|
Prolactinoma Of Pituitary Gland
|
|
PSPA
|
|
|
| Membranous Nephropathy |
|
Membranous Glomerulonephritis
|
Glomerulonephritis, Membranous
|
|
Idiopathic Membranous Nephropathy
|
Idiopathic Membranous Glomerulonephritis
|
|
MBNP
|
Membranous Nephropathy, Susceptibility To
|
|
Extramembranous Glomerulonephritis
|
Mgn
|
|
Membranous Gn
|
Primary Membranous Glomerulonephritis
|
|
Primary Membranous Nephropathy
|
Nephropathy Membranous
|
|
|
| Lowe Oculocerebrorenal Syndrome |
|
Lowe Syndrome
|
Oculocerebrorenal Syndrome
|
|
OCRL
|
Oculocerebrorenal Syndrome Of Lowe
|
|
Ocrl1
|
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
|
|
Lowe Disease
|
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
|
|
Cerebrooculorenal Syndrome
|
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
|
|
Lowe Oculo-Cerebro-Renal Dystrophy
|
Lowe Oculo-Cerebro-Renal Syndrome
|
|
Lowe Oculocerebrorenal Dystrophy
|
Low
|
|
Chromosome 11p Deletion Syndrome
|
Oculocerebrorenal Dystrophy
|
|
Cerebro-Oculorenal Dystrophy
|
Ocrl1 - [Oculocerebrorenal Syndrome]
|
|
Lowe-Terrey-Maclachlan Syndrome
|
Renal-Oculocerebrodystrophy
|
|
|
| Glomerulonephritis |
|
|
| Fanconi Syndrome |
|
Infantile Nephropathic Cystinosis
|
Adult Fanconi Syndrome
|
|
Congenital Fanconi Syndrome
|
De Toni-Fanconi Syndrome
|
|
Fanconi-De Toni Syndrome
|
Lignac-Fanconi Syndrome
|
|
Fanconi Renotubular Syndrome
|
Primary Fanconi Renotubular Syndrome
|
|
De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
|
Detoni Fanconi Syndrome
|
Fanconi-De-Toni Syndrome
|
|
Primary Fanconi Syndrome
|
Detoni-Debre-Fanconi Syndrome
|
|
Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
|
Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
|
Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Ureteral Obstruction |
|
|
| Insulin-Like Growth Factor I |
|
Insulin-Like Growth Factor I Deficiency
|
IGF1 DEFICIENCY
|
|
Insulin-Like Growth Factor I, Resistance To
|
Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency
|
|
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
|
Growth Delay Due To Insulin-Like Growth Factor I Resistance
|
|
IGF1RES
|
Igf-I Resistance
|
|
Somatomedin, End-Organ Insensitivity To
|
Somatomedin-C
|
|
Somatomedin-C, Resistance To
|
Growth Retardation With Sensorineural Deafness And Mental Retardation
|
|
Insulin-Like Growth Factor 1 Resistance To
|
Igf-1 Resistance
|
|
Somatomedin End-Organ Insensitivity To
|
Somatomedin-C Resistance To
|
|
Growth Restriction With Sensorineural Deafness And Intellectual Disability
|
Growth Delay-Deafness-Intellectual Disability Syndrome
|
|
Growth Delay-Hearing Loss-Intellectual Disability Syndrome
|
Igf-1 Deficiency
|
|
Primary Insulin-Like Growth Factor Deficiency
|
Resistance To Igf-1
|
|
Insulin-Like Growth Factor 1 Resistance
|
End-Organ Insensitivity To Somatomedin
|
|
Igf1 Resistance
|
Resistance To Insulin-Like Growth Factor I
|
|
Resistance To Somatomedin-C
|
Insulin-Like Growth Factor 1, Resistance To
|
|
|
| Congenital Intrinsic Factor Deficiency |
|
Hereditary Intrinsic Factor Deficiency
|
Intrinsic Factor Deficiency
|
|
Congenital Pernicious Anemia
|
Gastric Intrinsic Factor Deficiency
|
|
Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency
|
Ifd
|
|
Intrinsic Factor Deficiency, Congenital, Susceptibility To
|
Congenital Deficiency Of Intrinsic Factor
|
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
|
|
| Microphthalmia, Syndromic 12 |
|
Microphthalmia With Or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, And/Or Cardiac Defects
|
MCOPS12
|
|
Syndromic Microphthalmia 12
|
Syndromic Microphthalmia-12
|
|
Microphthalmia, Syndromic, 12
|
Microphthalmia, Syndromic, Type 12
|
|
|
| Primary Hyperparathyroidism |
|
Familial Primary Hyperparathyroidism
|
Hyperparathyroidism, Primary
|
|
Hyperparathyroidism Primary
|
Hypocalciuric Hypercalcemia, Familial, Type 1
|
|
Familial Benign Hypercalcemia
|
Familial Hyperparathyroidism
|
|
Parathyroid Enlargement
|
|
|
| Cerebral Lymphoma |
|
Primary Cerebral Lymphoma
|
Brain Primary Lymphoma
|
|
Primary Lymphoma Of Cerebrum
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Fanconi-Like Syndrome |
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Kidney Disease |
|
Renal Failure
|
Kidney Failure
|
|
Kidney Diseases
|
Nephropathy
|
|
Abnormality Of The Kidney
|
Impaired Renal Function Disease
|
|
Renal Anomaly
|
Kidney Dysfunction
|
|
Renal Disease
|
Nephropathies
|
|
Renal Failure Adverse Event
|
Abnormal Renal Function
|
|
|
| Nephrolithiasis |
|
Kidney Stones
|
Stone - Kidney/Ureter
|
|
Kidney Calculi
|
|
|
| Hypoplastic Left Heart Syndrome |
|
Hlhs
|
Heart, Hypoplastic Left, Syndrome
|
|
Hypoplasia Of The Left Heart
|
Left Heart Hypoplasia Syndrome
|
|
Hlhs - [Hypoplastic Left Heart Syndrome]
|
Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
|
|
Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
|
Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
|
|
Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
|
Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
|
|
Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
|
|
|
| Renal Tubular Transport Disease |
|
Renal Tubular Transport, Inborn Errors
|
Inborn Renal Tubular Transport Disorder
|
|
|
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Autosomal Recessive
|
Arh
|
|
FHCL4
|
Autosomal Recessive Hypercholesterolemia
|
|
Arh1
|
Arh2
|
|
Autosomal Recessive Hypercholesterolemia 1
|
Autosomal Recessive Hypercholesterolemia 2
|
|
Fhcb1
|
Fhcb2
|
|
Hypercholesterolemia, Autosomal Recessive, 1, Formerly
|
Arh1, Formerly
|
|
Fhcb1, Formerly
|
Hypercholesterolemia, Autosomal Recessive, 2, Formerly
|
|
Arh2, Formerly
|
Fhcb2, Formerly
|
|
Familial Autosomal Recessive Hypercholesterolemia
|
Hypercholesterolemia, Familial, Autosomal Recessive
|
|
Hypercholesterolemia, Familial, Type 4
|
|
|
| Acute Kidney Tubular Necrosis |
|
Acute Tubular Necrosis
|
Acute Renal Failure With Tubular Necrosis
|
|
Acute Tubule Necrosis
|
Acute Renal Failure With Lesion Of Tubular Necrosis
|
|
Atn - Acute Tubular Necrosis
|
Tubular Necrosis Acute
|
|
Kidney Tubular Necrosis, Acute
|
Acute Renal Tubular Necrosis
|
|
Acute Tubular Nephrosis
|
Ischaemic Acute Tubular Necrosis
|
|
Ischaemic Tubular Necrosis
|
Kidney Tubular Necrosis
|
|
Lower Nephron Nephrosis
|
Necrotising Renal Oedema
|
|
Renal Tubular Necrosis
|
Toxic Tubular Necrosis
|
|
Tubular Kidney Necrosis
|
Tubular Necrosis Nos
|
|
Tubular Nephrosis
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Nephrotic Syndrome |
|
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
|
Nephrosis Syndrome
|
Nephrosis Nos
|
|
Glomerular Lesion Nephrosis
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Diaphragm Disease |
|
Abnormality Of The Diaphragm
|
Disease Of Diaphragm
|
|
Diaphragmatic Disorder
|
Disorder Of Diaphragm
|
|
|
| Megaloblastic Anemia |
|
Imerslund-Grasbeck Syndrome
|
Igs
|
|
Defect Of Enterocyte Intrinsic Factor Receptor
|
Enterocyte Cobalamin Malabsorption
|
|
Familial Megaloblastic Anemia
|
Megaloblastic Anemia 1
|
|
Selective Cobalamin Malabsorption With Proteinuria
|
Imerslund-Gräsbeck Syndrome
|
|
Anemia, Megaloblastic
|
Grasbeck-Imerslund Syndrome
|
|
Megaloblastic Anaemia
|
Mga1 Norwegian Type
|
|
Recessive Hereditary Megaloblastic Anaemia 1
|
Recessive Hereditary Megaloblastic Anemia 1
|
|
Rh-Mga1
|
Gräsbeck-Imerslund Disease
|
|
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria
|
Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
|
|
Anemia Megaloblastic
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
|
3-@Methylglutaconic Aciduria, Type I
|
|
|
| Diaphragmatic Hernia, Congenital |
|
Congenital Diaphragmatic Hernia
|
Diaphragmatic Hernia
|
|
Cdh
|
Congenital Diaphragmatic Defect
|
|
Hernia, Diaphragmatic
|
Dih
|
|
Hernia, Congenital Diaphragmatic
|
Hcd
|
|
Diaphragmatic Defect, Congenital
|
Diaphragm, Unilateral Agenesis Of
|
|
Hemidiaphragm, Agenesis Of
|
Diaphragmatic Hernia 1
|
|
Agenesis Of Hemidiaphragm
|
Unilateral Agenesis Of Diaphragm
|
|
Hernia Diaphragmatic
|
Hernia Diaphragmatic Congenital
|
|
Hernia, Diaphragmatic, Type 1
|
Hiatus Hernia
|
|
Oesophageal Hiatus Hernia
|
Paraoesophageal Hernia
|
|
Sliding Hiatus Hernia
|
Congenital Diaphragm Hernia
|
|
Congenital Diaphragm Defect With Hernia
|
Gross Congenital Diaphragm Defect
|
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Behcet Syndrome |
|
Behcet Disease
|
Behcet'S Syndrome
|
|
Behcet'S Disease
|
Behçet Disease
|
|
Bd
|
Adamantiades-Behcet Disease
|
|
Triple Symptom Complex
|
Behçet'S Disease
|
|
Behet'S Syndrome
|
Bd Syndrome
|
|
Behçet Syndrome
|
Behçet'S Syndrome
|
|
Behcet Triple Symptom Complex
|
Malignant Aphthosis
|
|
Old Silk Route Disease
|
Adamantiades-Behçet Disease
|
|
|
| Alport Syndrome |
|
Hereditary Nephritis
|
Alport Syndrome, X-Linked
|
|
Hemorrhagic Hereditary Nephritis
|
Congenital Hereditary Hematuria
|
|
Hemorrhagic Familial Nephritis
|
Familial Nephritis
|
|
Thin Basement Membrane Disease
|
Thin Basement Membrane Nephropathy
|
|
Hematuria-Nephropathy-Deafness Syndrome
|
Hematuric Hereditary Nephritis
|
|
Hereditary Familial Congenital Hemorrhagic Nephritis
|
Hereditary Hematuria Syndrome
|
|
Hereditary Interstitial Pyelonephritis
|
Alport Deafness-Nephropathy
|
|
Alport Hearing Loss-Nephropathy
|
Alports Syndrome
|
|
Nephritis, Hereditary
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
| Familial Hypercholesterolemia |
|
Hyperlipoproteinemia Type Iia
|
Familial Hyperbetalipoproteinaemia
|
|
Familial Hypercholesteremia
|
Fredrickson Type Iia Hyperlipoproteinemia
|
|
Fredrickson Type Iia Lipidaemia
|
Hyperbetalipoproteinemia
|
|
Type Ii Hyperlipidemia
|
Familial Hypercholesterolæmia
|
|
Familial Hypercholesterolaemia
|
Fh
|
|
Hypercholesterolemia Familial
|
Hyperlipoproteinemia Type Ii
|
|
Hypercholesterolemia, Familial
|
|
|
| Focal Segmental Glomerulosclerosis |
|
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome
|
Focal Glomerulosclerosis
|
|
Fsgs
|
Segmental Glomerulosclerosis
|
|
Glomerulosclerosis, Focal Segmental
|
Fgs
|
|
Focal Glomerular Sclerosis
|
Familial Idiopathic Nephrotic Syndrome
|
|
Focal Sclerosis With Hyalinosis
|
Glomerulosclerosis, Focal
|
|
Glomerulosclerosis Focal
|
Glomerulosclerosis, Segmental, Focal
|
|
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic Kidney Disease, Adult Type
|
Adpkd
|
|
Polycystic Kidney Diseases
|
Polycystic Kidney, Autosomal Dominant
|
|
Congenital Biliary Ectasias
|
Polycystic Kidney And Hepatic Disease 1
|
|
Polycystic Kidney Disease, Autosomal Dominant
|
Kidney, Polycystic, Disease, Autosomal Dominant
|
|
Adult Polycystic Kidney Disease
|
Polycystic Kidney, Adult Type
|
|
Apckd - [Autosomal Polycystic Kidney Disease]
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
