| Diseases |
Alias |
|
| Congenital Disorder Of Glycosylation, Type Iic |
|
CDG2C
|
Congenital Disorder Of Glycosylation Type Iic
|
|
Leukocyte Adhesion Deficiency Type Ii
|
Cdg Iic
|
|
Cdgiic
|
Rambam-Hasharon Syndrome
|
|
Leukocyte Adhesion Deficiency, Type Ii
|
Lad2
|
|
Leukocyte Adhesion Deficiency 2
|
Cdg-Iic
|
|
Congenital Disorder Of Glycosylation, Type 2c
|
Rhs
|
|
Cdg Syndrome Type Iic
|
Lad-Ii
|
|
Rambam Hasharon Syndrome
|
Congenital Disorder Of Glycosylation 2c
|
|
Glycosylation, Congenital Disorder Of, Type Iic
|
|
|
| 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
|
|
|
| Congenital Disorder Of Glycosylation, Type Iif |
|
CDG2F
|
Congenital Disorder Of Glycosylation Type Iif
|
|
Cdg Iif
|
Cdgiif
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iif
|
Cmp-Sialic Acid Transporter Deficiency
|
|
Slc35a1-Cdg
|
Cdg-Iif
|
|
Cdgiidf
|
Cdg Syndrome Type Iif
|
|
Congenital Disorder Of Glycosylation Type 2f
|
Congenital Disorder Of Glycosylation 2f
|
|
Glycosylation, Congenital Disorder Of, Type Iif
|
|
|
| Congenital Disorder Of Glycosylation, Type Iik |
|
CDG2K
|
Congenital Disorder Of Glycosylation Type Iik
|
|
Cdg Iik
|
Cdgiik
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iik
|
Cdg Syndrome Type Iik
|
|
Congenital Disorder Of Glycosylation Type 2k
|
Tmem165-Cdg
|
|
Cdg-Iik
|
Cdgiidk
|
|
Congenital Disorder Of Glycosylation 2k
|
Glycosylation, Congenital Disorder Of, Type Iik
|
|
|
| Congenital Disorder Of Glycosylation, Type Iin |
|
CDG2N
|
Slc39a8-Cdg
|
|
Cdg Iin
|
Congenital Disorder Of Glycosylation Type Iin
|
|
Cdgiin
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iin
|
|
Cdg Syndrome Type Iin
|
Congenital Disorder Of Glycosylation Type 2n
|
|
Cdg-Iin
|
Cdgiidn
|
|
Slc39a8 Deficiency
|
Congenital Disorder Of Glycosylation 2n
|
|
Glycosylation, Congenital Disorder Of, Type Iin
|
|
|
| Immunodeficiency 23 |
|
Cid Due To Pgm3 Deficiency
|
Combined Immunodeficiency Due To Pgm3 Deficiency
|
|
Pgm3-Cdg
|
Pgm3-Related Congenital Disorder Of Glycosylation
|
|
IMD23
|
Immunodeficiency With Hyper Ige And Cognitive Impairment
|
|
Immunodeficiency-Vasculitis-Myoclonus Syndrome
|
Ivms
|
|
Phosphoglucomutase 3 Deficiency
|
Phosphoglucomutase Deficiency Type 3
|
|
Pgm3-Congenital Disorder Of Glycosylation
|
Agm1 Deficiency
|
|
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1
|
Deficiency Of Phosphoglucomutase 3
|
|
Pgm3 Deficiency
|
Immunodeficiency, Type 23
|
|
|
| Leukocyte Adhesion Deficiency, Type I |
|
Leukocyte Adhesion Deficiency
|
Leukocyte Adhesion Deficiency 1
|
|
LAD1
|
Lad
|
|
Lymphocyte Function-Associated Antigen 1 Immunodeficiency
|
Leukocyte Adhesion Deficiency Type I
|
|
Leukocyte Adhesion Deficiency Type 1
|
Linear Iga Bullous Dermatosis
|
|
Linear Iga Dermatosis
|
Leukocyte-Adhesion Deficiency Syndrome
|
|
Lfa1 Immunodeficiency
|
Congenital Leukocyte Adherence Deficiency
|
|
Lad-I
|
Linear Iga Disease
|
|
Leukocyte Adhesion Deficiency Syndrome
|
Lad 1
|
|
Lfa 1 Immunodeficiency
|
Linear Immunoglobulin A Dermatosis
|
|
Leucocyte Adhesion Deficiency Type 1
|
Leukocyte Adhesion Molecule Deficiency Type 1
|
|
|
| Congenital Disorder Of Glycosylation, Type Iid |
|
CDG2D
|
Congenital Disorder Of Glycosylation Type Iid
|
|
Cdg Iid
|
Cdgiid
|
|
B4galt1-Cdg
|
Cdg-Iid
|
|
Congenital Disorder Of Glycosylation Type 2d
|
Beta-1,4-Galactosyltransferase Deficiency
|
|
Cdg Syndrome Type Iid
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iid
|
|
Congenital Disorder Of Glycosylation 2d
|
Glycosylation, Congenital Disorder Of, Type Iid
|
|
Congenital Disorder Of Glycosylation, Type Iiid
|
|
|
| Congenital Disorder Of Glycosylation, Type Iib |
|
CDG2B
|
CDGIIB
|
|
Glucosidase I Deficiency
|
Congenital Disorder Of Glycosylation Type Iib
|
|
Cdg Iib
|
Mogs-Cdg
|
|
Cdg Syndrome Type Iib
|
Cdg-Iib
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iib
|
Congenital Disorder Of Glycosylation Type 2b
|
|
Glucosidase 1 Deficiency
|
Type Iib Congenital Disorder Of Glycosylation
|
|
Glycosylation, Congenital Disorder Of, Type Iib
|
|
|
| Frontonasal Dysplasia 2 |
|
FND2
|
Frontonasal Dysplasia With Alopecia And Genital Anomaly
|
|
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
|
Alx4-Related Fndag
|
|
Craniofrontonasal Dysplasia With Alopecia And Hypogonadism
|
Frontonasal Dysplasia Type 2
|
|
Frontonasal Dysplasia With Alopecia And Genital Abnomality
|
Doid:0081046
|
|
Dysplasia, Frontonasal, Type 2
|
|
|
| Developmental And Epileptic Encephalopathy 36 |
|
Congenital Disorder Of Glycosylation Type I
|
Epileptic Encephalopathy, Early Infantile, 36
|
|
Congenital Disorder Of Glycosylation, Type Is
|
Cdg1s
|
|
Congenital Disorder Of Glycosylation, Type Ie
|
CDG1E
|
|
Congenital Disorder Of Glycosylation Type 1e
|
DEE36
|
|
Eiee36
|
Cdg Is
|
|
Cdgis
|
Congenital Disorder Of Glycosylation Ie
|
|
Congenital Disorder Of Glycosylation 1e
|
Cdg-Is
|
|
Congenital Disorder Of Glycosylation Type Is
|
Developmental And Epileptic Encephalopathy, 36
|
|
Cdg Ie
|
Cdgie
|
|
Early Infantile Epileptic Encephalopathy 36
|
Alg13-Cdg
|
|
Cdg Syndrome Type Is
|
Congenital Disorder Of Glycosylation Type 1s
|
|
Dpm1-Cdg
|
Cdg Syndrome Type Ie
|
|
Cdg-Ie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ie
|
|
Congenital Disorder Of Glycosylation Type Ie
|
Dol-P-Mannosyltransferase Deficiency
|
|
Congenital Disorder Of Glycosylation 1s
|
Glycosylation, Congenital Disorder Of, Type I
|
|
Glycosylation, Congenital Disorder Of, Type Ie
|
Congenital Disorder Of Glycosylation Type 1a
|
|
Congenital Disorder Of Glycosylation, Type Iu
|
|
|
| Schneckenbecken Dysplasia |
|
SHNKND
|
Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis
|
|
Chondrodysplasia Lethal Neonatal With Snail Like Pelvis
|
Chondrodysplasia With Snail-Like Pelvis
|
|
Slc35d1-Cdg
|
Dysplasia, Schneckenbecken
|
|
|
| Congenital Disorder Of Glycosylation, Type Iio |
|
CDG2O
|
Ccdc115-Cdg
|
|
Cdg Iio
|
Congenital Disorder Of Glycosylation Type Iio
|
|
Cdgiio
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iio
|
|
Cdg Syndrome Type Iio
|
Congenital Disorder Of Glycosylation Type 2o
|
|
Cdg-Iio
|
Cdgiido
|
|
Congenital Disorder Of Glycosylation 2o
|
Glycosylation, Congenital Disorder Of, Type Iio
|
|
|
| Congenital Disorder Of Glycosylation, Type Iia |
|
CDG2A
|
Congenital Disorder Of Glycosylation Type Iia
|
|
Cdg Iia
|
Cdgiia
|
|
Congenital Disorder Of Glycosylation Type 2a
|
Alkuraya Syndrome
|
|
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth
|
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
|
|
Mgat2-Cdg
|
Cdg-Iia
|
|
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly
|
Cdgs2, Formerly
|
|
Cdgs2
|
Cdg Syndrome Type Iia
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iia
|
N-Acetylglucosaminyltransferase 2 Deficiency
|
|
Congenital Disorder Of Glycosylation 2a
|
Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
|
|
Cdgs Type Ii
|
Carbohydrate-Deficient Glycoprotein Syndrome Type 2
|
|
Glycosylation, Congenital Disorder Of, Type Iia
|
|
|
| Fructose Intolerance, Hereditary |
|
Hereditary Fructose Intolerance
|
Fructose Intolerance
|
|
Fructose-1-Phosphate Aldolase Deficiency
|
Fructose-1,6-Bisphosphate Aldolase B Deficiency
|
|
Aldolase B Deficiency
|
Fructosemia
|
|
Aldob Deficiency
|
Hereditary Fructose Intolerance Syndrome
|
|
HFI
|
Fructosaemia
|
|
Hereditary Fructose-1-Phosphate Aldolase Deficiency
|
Fructose Aldolase B Deficiency
|
|
Fructose-1,6-Biphosphate Aldolase Deficiency
|
Hereditary Fructosemia
|
|
Fructosemia, Hereditary
|
Hereditary Fructosaemia
|
|
Fructose-Biphosphate Aldolase B Deficiency
|
Fructose Intolerance Of Newborn
|
|
Aldb - [Aldolase B] Deficiency
|
Deficiency Of Fructose-Bisphosphate Aldolase
|
|
|
| Parietal Foramina |
|
Enlarged Parietal Foramina
|
Hereditary Cranium Bifidum
|
|
Symmetric Parietal Foramina
|
Catlin Marks
|
|
Foramina Parietalia Permagna
|
Caitlin Marks
|
|
Cranium Bifidum
|
Cranium Bifidum Occultum
|
|
Fenestrae Parietals Symmetricae
|
Fpp
|
|
Giant Parietal Foramina
|
Pfm
|
|
Fenestrae Parietales Symmetricae
|
Foramina, Parietal
|
|
|
| Developmental And Epileptic Encephalopathy 42 |
|
DEE42
|
Epileptic Encephalopathy, Early Infantile, 42
|
|
Eiee42
|
Developmental And Epileptic Encephalopathy, 42
|
|
Early Infantile Epileptic Encephalopathy 42
|
Encephalopathy, Epileptic, Early Infantile, Type 42
|
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
|
Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocyte Adhesion Deficiency 3
|
LAD3
|
|
Leukocyte Adhesion Deficiency 1 Variant
|
Lad1v
|
|
Integrin Activation Deficiency Disease
|
Iadd
|
|
Leukocyte Adhesion Deficiency Type Iii
|
Lad1 Variant
|
|
Lad-1 Variant
|
Lad-Iii
|
|
Leukocyte Adhesion Deficiency-1 Variant
|
Leukocyte Adhesion Deficiency Type 1
|
|
|
| Combined Immunodeficiency |
|
Combined T Cell And B Cell Immunodeficiency
|
Congenital Combined Immunodeficiency
|
|
Syndrome With Combined Immunodeficiency
|
Combined T And B Cell Immunodeficiency
|
|
Combined Immunity Deficiency
|
Combined Immunodeficiency Syndrome
|
|
Combined T-Cell And B-Cell Immunodeficiency
|
Lymphopenic Agammaglobulinaemia
|
|
|
| Cohen Syndrome |
|
Pepper Syndrome
|
COH1
|
|
Hypotonia, Obesity, And Prominent Incisors
|
Coh
|
|
Chs1, Formerly
|
Norio Syndrome
|
|
Obesity-Hypotonia Syndrome
|
Prominent Incisors-Obesity-Hypotonia Syndrome
|
|
Chs1
|
Hypotonia-Obesity-Prominent Incisors
|
|
Stage 4s Neuroblastoma
|
|
|
| Dowling-Degos Disease |
|
Reticular Pigment Anomaly Of Flexures
|
Dark Dot Disease
|
|
Reticulate Acropigmentation Of Kitamura
|
Dowling-Degos Kitamura Disease
|
|
Kitamura Reticulate Acropigmentation
|
Ddd
|
|
Dowling-Degos-Kitamura Disease
|
Reticular Pigmented Anomaly Of Flexures
|
|
|
| Severe Congenital Neutropenia |
|
Congenital Neutropenia
|
Neutropenia, Severe Congenital
|
|
Congenital Agranulocytosis
|
Infantile Genetic Agranulocytosis
|
|
Kostmann Disease
|
Kostmann'S Agranulocytosis
|
|
Kostmann'S Syndrome
|
Severe Infantile Genetic Neutropenia
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
