| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Gait ataxia, Shyness |
OMIM:618221 |
| Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Apathy, Bradyk... |
ORPHA:412066 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Developmental And Epileptic Encephalopathy 56 |
|
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait |
OMIM:617665 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
| Persistent Idiopathic Facial Pain |
|
Anxiety, Depression |
ORPHA:398147 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor |
ORPHA:46532 |
| Nephronophthisis 16 |
|
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... |
OMIM:615382 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
| Sagliker Syndrome |
|
Anxiety, Waddling gait, Depression |
ORPHA:300493 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
| Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
| Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... |
ORPHA:96369 |
| Creutzfeldt-Jakob Disease |
|
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment |
OMIM:123400 |
| Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Leg dystonia, Agoraphobia, Fatigable weakness, Inabilit... |
ORPHA:255 |
| Childhood Disintegrative Disorder |
|
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... |
ORPHA:168782 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney |
OMIM:615415 |
| Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
| Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... |
ORPHA:85445 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... |
ORPHA:401901 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Dry skin, Erythema, Scaling skin |
ORPHA:530838 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Anxiety, Aggressive behavior |
OMIM:618286 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Anxiety, Depression |
OMIM:614296 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety |
ORPHA:101039 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact |
ORPHA:444002 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression |
OMIM:159900 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia, Poor eye contact |
OMIM:300983 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... |
ORPHA:882 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts, Decreased glomerular filt... |
ORPHA:730 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Impaired social interactions |
OMIM:606053 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Inappropriate crying, Impaired social interactions |
ORPHA:397933 |
| Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
| Rabies |
|
Anxiety, Attention deficit hyperactivity disorder, Depression |
ORPHA:770 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Scaling skin, Erythema |
OMIM:617571 |
| Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Frontotemporal dementia, Anxiety, Mental deterioration, D... |
ORPHA:100070 |
| Huntington Disease-Like 1 |
|
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
| Acral Peeling Skin Syndrome |
|
Scaling skin, Excessive wrinkling of palmar skin, Erythema |
ORPHA:263534 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Thrombocytopenia, Scaling skin |
OMIM:612952 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Bradykinesia, Anxiety, Depression |
OMIM:605909 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Cutis laxa |
OMIM:105250 |
| Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... |
OMIM:604326 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis |
OMIM:615023 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Elevated hepatic transaminase, Exercise-induced myoglobinuria, Acute kidney ... |
ORPHA:284426 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Kaposiform Lymphangiomatosis |
|
Ecchymosis, Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of ... |
ORPHA:464329 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... |
ORPHA:101330 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Ascites, Glomer... |
OMIM:276700 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
| Epidermolytic Hyperkeratosis |
|
Scaling skin, Epidermal acanthosis |
OMIM:113800 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... |
OMIM:618495 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Dry skin, Cutis laxa, Epidermal acanthosis |
ORPHA:2269 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
No social interaction, Aggressive behavior, Impaired social interactions |
ORPHA:329249 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... |
OMIM:615234 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
| Chorea, Benign Hereditary |
|
Anxiety, Gait disturbance |
OMIM:118700 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... |
ORPHA:71517 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Juvenile Huntington Disease |
|
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... |
ORPHA:248111 |
| Migraine, Familial Hemiplegic, 1 |
|
Anxiety, Ataxia |
OMIM:141500 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
| Idiopathic Localized Lipodystrophy |
|
Scaling skin, Erythema |
ORPHA:90158 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:237800 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
| Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
| Centrifugal Lipodystrophy |
|
Lymphadenitis, Erythema, Scaling skin |
ORPHA:90156 |
| Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Pancreatic fibrosis, Polysplenia... |
OMIM:200995 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Peeling Skin Syndrome 5 |
|
Epidermal acanthosis |
OMIM:617115 |
| Oculotrichodysplasia |
|
Scaling skin, Dry skin |
OMIM:257960 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Psoriasiform lesion, Lymphadenopathy, Decreased proportion of CD3-positive T cells, ... |
ORPHA:169154 |
| Acrokeratosis Verruciformis |
|
Epidermal acanthosis |
OMIM:101900 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
ORPHA:79301 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... |
OMIM:617303 |
| Trimethylaminuria |
|
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Decreased proportion of CD4+CD25+ regulato... |
OMIM:606367 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Ataxia, Disinhibition, Abnormal social behavior, Memory impairment |
ORPHA:1020 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
| Psoriasis 2 |
|
Scaling skin, Epidermal acanthosis |
OMIM:602723 |
| Peeling Skin Syndrome 1 |
|
Scaling skin, Erythema |
OMIM:270300 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Dysmetria, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, Depression |
OMIM:618093 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
| Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration |
ORPHA:2382 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
| Cole Disease |
|
Epidermal acanthosis |
OMIM:615522 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... |
ORPHA:90301 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Poor eye contact,... |
ORPHA:163681 |
| Young-Onset Parkinson Disease |
|
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... |
ORPHA:2828 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Huntington Disease |
|
Gait disturbance, Dystonia, Gait imbalance, Bradyphrenia, Suicidal ideation, Aggressive behavior,... |
ORPHA:399 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation |
ORPHA:208441 |
| Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
| Raynaud-Claes Syndrome |
|
Aggressive behavior, Progressive cerebellar ataxia, Anxiety, Depression, Bipolar affective disorder |
OMIM:300114 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Lipid accumulation in ... |
OMIM:608836 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Childhood Absence Epilepsy |
|
Low self esteem, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Dep... |
ORPHA:64280 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Ecchymosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Petechiae, Nodular regenerative hype... |
OMIM:619463 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... |
OMIM:610042 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... |
OMIM:232220 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Decreased glomerular ... |
OMIM:232200 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Anxiety |
OMIM:602066 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Anxiety |
ORPHA:494541 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
| Trisomy X |
|
Attention deficit hyperactivity disorder, Anxiety, Cognitive impairment, Depression |
ORPHA:3375 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... |
OMIM:614377 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, X-Linked 9 |
|
Anxiety, Aggressive behavior |
OMIM:309549 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Familial Reactive Perforating Collagenosis |
|
Abnormal epidermal morphology |
ORPHA:79147 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
| Hypotrichosis Simplex Of The Scalp |
|
Scaling skin, Epidermal acanthosis |
ORPHA:90368 |
| Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hypoplasia of penis, Nephroblastoma |
ORPHA:2849 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:613670 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Erythema, Splenomegaly, Dry skin, ... |
ORPHA:2584 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice |
OMIM:224100 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
OMIM:214900 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
| Matthew-Wood Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnorma... |
ORPHA:2470 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Dry skin, Erythema, Scaling skin |
OMIM:614457 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Epidermal acanthosis |
OMIM:616295 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Attention deficit hypera... |
ORPHA:449291 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
| Atypical Rett Syndrome |
|
Inappropriate crying, Gait disturbance, Dystonia, Poor eye contact, Inappropriate laughter, Loss ... |
ORPHA:3095 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
| Proteus Syndrome |
|
Lymphangioma, Epidermal acanthosis, Splenomegaly |
OMIM:176920 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Ataxia, Anxiety, Depression, Difficulty walking |
OMIM:619425 |
| Graft Versus Host Disease |
|
Lymphadenopathy, Acute hepatitis, Hepatosplenomegaly, Scaling skin, Elevated hepatic transaminase... |
ORPHA:39812 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... |
OMIM:602347 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Elevated circulating follicle stimulating hormone level, Scaling skin, Unilateral renal agenesis,... |
OMIM:618419 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Ataxia, Dysdiadocho... |
OMIM:615157 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
| Hsd10 Disease |
|
Abnormal social behavior, Gait disturbance, Ataxia |
ORPHA:391417 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Scaling skin, Unilateral renal agenesis, Dry skin,... |
OMIM:308205 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Decreased response to growth hormone stimulation test, Scaling skin |
ORPHA:79323 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Pallor, Hemolytic anemia |
ORPHA:56425 |
| Feingold Syndrome Type 2 |
|
Anxiety, Emotional lability |
ORPHA:391646 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... |
ORPHA:1414 |
| Peeling Skin Syndrome 4 |
|
Scaling skin, Epidermal acanthosis |
OMIM:607936 |
| Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Lymphadeniti... |
ORPHA:449395 |
| Perry Syndrome |
|
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... |
OMIM:168605 |
| Cutaneous Mastocytoma |
|
Scaling skin, Erythema |
ORPHA:79455 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... |
OMIM:616828 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Hematuria, Splenomegaly, Abnormality of the... |
ORPHA:91138 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Anxiety, Dementia |
OMIM:204200 |
| Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... |
OMIM:608022 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Parkinsonism With Polyneuropathy |
|
Anxiety, Depression, Bradykinesia |
OMIM:619279 |
| Wolfram-Like Syndrome |
|
Progressive cerebellar ataxia, Anxiety, Dementia, Depression |
ORPHA:411590 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
| Bazex Syndrome |
|
Scaling skin, Anemia |
ORPHA:166113 |
| Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... |
ORPHA:848 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Hepatic cysts, Pallor, Pancreatic cysts |
OMIM:616307 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
| Posterior Cortical Atrophy |
|
Ataxia, Anxiety, Inertia, Memory impairment |
ORPHA:54247 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... |
OMIM:194380 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ps... |
OMIM:614700 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice |
OMIM:611804 |
| O'Donnell-Luria-Rodan Syndrome |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Skin-picking |
OMIM:618512 |
| Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin |
OMIM:609180 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency |
ORPHA:100025 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Epidermal acanthosis |
OMIM:617526 |
| Adiposis Dolorosa |
|
Anxiety, Depression |
OMIM:103200 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Scaling skin, Dry skin, Epidermal acanthosis |
OMIM:612281 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Bathing Suit Ichthyosis |
|
Scaling skin, Epidermal acanthosis |
ORPHA:100976 |
| Tonne-Kalscheuer Syndrome |
|
Shyness, Self-injurious behavior, Aggressive behavior, Broad-based gait, Anxiety |
OMIM:300978 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin |
OMIM:604536 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... |
ORPHA:1046 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Increased circulating myelocyte count, Peritonitis, Hepatitis, Increased circulating ... |
ORPHA:36234 |
| Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Amyotrophic lateral sclerosis, Emotio... |
ORPHA:803 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Petechiae, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... |
OMIM:612840 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... |
OMIM:618892 |
| Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Dementia, Dystonia, Progressive gait ataxia, Emotional lab... |
ORPHA:309271 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Epidermal acanthosis |
OMIM:617525 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... |
OMIM:613812 |
| Primary Myelofibrosis |
|
Ecchymosis, Hepatomegaly, Leukocytosis, Thrombocytosis, Petechiae, Lymphadenopathy, Anemia, Splen... |
ORPHA:824 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive psychomotor deterioration, Dystonia, Progressive gait ataxia, Emotional lability, Abn... |
ORPHA:309263 |
| Beta-Thalassemia Intermedia |
|
Splenomegaly, Hepatosplenomegaly, Pallor, Skin ulcer, Anemia of inadequate production, Jaundice, ... |
ORPHA:231222 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
| Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... |
ORPHA:507 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Anxiety, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Myoclonic-Astatic Epilepsy |
|
Lack of peer relationships, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Unst... |
ORPHA:1942 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Anxiety, Ataxia |
OMIM:618970 |
| Rolandic Epilepsy |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:1945 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Dementia, Motor deterioration, Bradyphrenia, Cognitive impairment, Apathy, Emot... |
ORPHA:136 |
| Posttransplant Acute Limbic Encephalitis |
|
Dystonia, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impairment |
ORPHA:163921 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Progressive gait ataxia, Emotional lability, Tip-toe gait, Abnormal social behavior, Ga... |
ORPHA:309256 |
| Ichthyosis Vulgaris |
|
Dry skin, Absent keratohyalin granules |
OMIM:146700 |
| Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Hepatoblastoma, Nephrolithias... |
OMIM:130650 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
| Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
| Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| H Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly, Micropenis, Microcytic anemia, Decreased testicular size, Ab... |
ORPHA:168569 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Shyness, Waddling gait, Difficulty walking |
ORPHA:280763 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Thrombocytopenia, Sea-blue hi... |
ORPHA:158029 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness |
OMIM:300801 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Adenylosuccinase Deficiency |
|
Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye contact, Inappropriate laughter, H... |
OMIM:103050 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
| Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly |
OMIM:254450 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
| Choreoacanthocytosis |
|
Dystonia, Dementia, Aggressive behavior, Self-mutilation of tongue and lips due to involuntary mo... |
OMIM:200150 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, A... |
ORPHA:309246 |
| Atrophoderma Vermiculata |
|
Erythema, Abnormal epidermal morphology |
ORPHA:79100 |
| Distal Xq28 Microduplication Syndrome |
|
Self-biting, Aggressive behavior, Poor eye contact, Tip-toe gait, Impulsivity, Anxiety, Attention... |
ORPHA:293939 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor |
ORPHA:163596 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:411515 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, ... |
ORPHA:79259 |
| Jansen-De Vries Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder, Broad-based gait |
OMIM:617450 |
| Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression |
OMIM:616398 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... |
ORPHA:1929 |
| Pemphigus Foliaceus |
|
Scaling skin, Erythema, Acantholysis, Skin vesicle |
ORPHA:79481 |
| Chung-Jansen Syndrome |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Impulsivity |
OMIM:617991 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:251004 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Dystonia, Hyperactivity, Ataxia |
OMIM:615924 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
| Inherited Creutzfeldt-Jakob Disease |
|
Dementia, Akinetic mutism, Progressive forgetfulness, Apathy, Bradykinesia, Progressive cerebella... |
ORPHA:282166 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Fragile X Tremor/Ataxia Syndrome |
|
Dementia, Dysmetria, Bradykinesia, Impaired tandem gait, Dysdiadochokinesis, Disinhibition, Menta... |
OMIM:300623 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder |
ORPHA:261102 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Polycythemia, Congenital megaureter, Cardiomegaly, Hepatoblas... |
ORPHA:116 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... |
ORPHA:485350 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Abnormality of the lymphatic system, Nephroblastoma, Hydrocele testis... |
ORPHA:276280 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... |
OMIM:610333 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin, Hydronephrosis |
ORPHA:35173 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Rena... |
ORPHA:108 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter |
OMIM:618718 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heavy proteinuria, Nephrotic syndrome, Leukopenia, Bone marrow hypocellularity, Anemia, Hepatospl... |
ORPHA:505248 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Hyperactivity, Ataxia |
ORPHA:530983 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Dysmetria, Aggressive behavior, Ataxia, Dysdiadochokinesis, Anxiety |
OMIM:618356 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
| Rat-Bite Fever |
|
Lymphadenitis, Anemia, Pancreatitis, Abdominal aseptic abscess, Parotitis, Scaling skin |
ORPHA:31205 |
| Beck-Fahrner Syndrome |
|
Attention deficit hyperactivity disorder, Anxiety, Impaired social interactions, Depression |
OMIM:618798 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytos... |
ORPHA:79477 |
| Martinez-Frias Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct atresia, Hypoplas... |
OMIM:601346 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
| Autism, Susceptibility To, 18 |
|
Anxiety |
OMIM:615032 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
| Intellectual Developmental Disorder With Neuropsychiatric Features |
|
Anxiety |
OMIM:617532 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Pyoderma gangrenosum, Sp... |
OMIM:150550 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Pallor, Hemolytic anemia, Abnormal leukocyte morphology |
ORPHA:98375 |
| Kosaki Overgrowth Syndrome |
|
Anxiety, Depression, Progressive neurologic deterioration |
OMIM:616592 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Micropenis, Hyperechogenic kidneys, Cryptorchidism, Microphallus, Enlarged kidney |
OMIM:612651 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... |
OMIM:300908 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa, Epidermal acanthosis |
ORPHA:79148 |
| Usher Syndrome Type 1 |
|
Ataxia, Anxiety, Depression |
ORPHA:231169 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly |
OMIM:615846 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
| Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dementia, Motor deterioration, Cognitive impairment, Loss of ability to walk, Emotional lability,... |
ORPHA:79264 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
| Usher Syndrome Type 3 |
|
Ataxia, Anxiety, Depression |
ORPHA:231183 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... |
OMIM:251880 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Elevated hep... |
ORPHA:158057 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
| Caroli Disease |
|
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Epidermal acanthosis, Splenomegaly, Hypereosinophilia, Dry skin, Autoimmune hemolyt... |
OMIM:617388 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Splenomegaly |
OMIM:602390 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... |
OMIM:607765 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Multiple glomerular cys... |
OMIM:267010 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
| Mal De Débarquement |
|
Unsteady gait, Anxiety, Gait imbalance |
ORPHA:210272 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency |
ORPHA:79312 |
| Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Overfriendl... |
OMIM:123450 |
| Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
| Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice |
OMIM:182900 |
| Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
| X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Inappropriate sexual behav... |
ORPHA:43 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Suicidal ideation, Cognitive impairment, Anxiety, Attention deficit hyperact... |
ORPHA:98784 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
| Coach Syndrome 1 |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... |
OMIM:216360 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
| Mal De Meleda |
|
Erythema, Epidermal acanthosis |
ORPHA:87503 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... |
OMIM:308240 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Anxiety, Cognitive impairment, Ataxia, Bradykinesia |
ORPHA:36387 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure, Intrahepatic cholesta... |
OMIM:235555 |
| Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
| Luscan-Lumish Syndrome |
|
Anxiety, Aggressive behavior, Shyness |
OMIM:616831 |
| Classic Galactosemia |
|
Gait disturbance, Dystonia, Gait imbalance, Ataxia, Mental deterioration, Anxiety, Attention defi... |
ORPHA:79239 |
| Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... |
OMIM:613159 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Cholangitis, Jaundice, Dry skin, Epidermal acanthosis |
OMIM:607626 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Abnormal urinary c... |
ORPHA:90033 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminase |
OMIM:613489 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
| Parkes Weber Syndrome |
|
Urinary retention, Abnormal lymphatic vessel morphology, Abnormality of the urinary system, Nephr... |
ORPHA:90307 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... |
ORPHA:131 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... |
OMIM:615630 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... |
OMIM:618641 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia |
OMIM:606324 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Epidermal acanthosis |
ORPHA:79395 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... |
ORPHA:168491 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Anxiety |
OMIM:606703 |
| Alg9-Cdg |
|
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Abnormal renal artery morphology, Hepatic cyst... |
ORPHA:79328 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... |
OMIM:309520 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Nephropathy, Splenomegaly |
ORPHA:87876 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Anemia of inadequate production, Exocrine pancreatic insuffic... |
OMIM:612714 |
| Fragile X Syndrome |
|
Hyperactivity, Poor eye contact |
OMIM:300624 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
| Immunodeficiency 58 |
|
Scaling skin, Dysuria, Psoriasiform lesion |
OMIM:618131 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Riddle Syndrome |
|
Scaling skin, Generalized lymphadenopathy, Erythema, Enuresis nocturna |
ORPHA:420741 |
| Infantile Neuroaxonal Dystrophy |
|
Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Psychomotor d... |
ORPHA:35069 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Abnormality of endocrine pancreas physiology, Horseshoe kidney, Renal Fanconi syndro... |
ORPHA:93111 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria, Skin ulcer |
ORPHA:834 |
| Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
| Central Diabetes Insipidus |
|
Anxiety, Depression, Lethargy |
ORPHA:178029 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
| Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... |
ORPHA:39041 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... |
OMIM:615710 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Petechiae, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, T... |
OMIM:251290 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Erythema, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... |
ORPHA:905 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increas... |
ORPHA:822 |
| Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... |
OMIM:603903 |
| Niemann-Pick Disease Type C |
|
Gait disturbance, Dementia, Dystonia, Axial dystonia, Aggressive behavior, Cognitive impairment, ... |
ORPHA:646 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
| Pearson Marrow-Pancreas Syndrome |
|
Renal Fanconi syndrome, Refractory sideroblastic anemia, 3-Methylglutaric aciduria, Pancreatic fi... |
OMIM:557000 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Apathy, Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Anxiety, L... |
ORPHA:227510 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Abnormal renal physiology, Ane... |
ORPHA:540 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, Abnormal social behavio... |
ORPHA:314647 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... |
OMIM:256550 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
| Xq28 (MECP2) duplication |
|
Anxiety, Inability to walk, Gait ataxia, Depression |
DECIPHER:45 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Dry skin, Elevated hepatic transaminase, Proximal tubulopathy, Splenomegaly, Cirrho... |
OMIM:614576 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... |
OMIM:609981 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice |
OMIM:616649 |
| Sézary Syndrome |
|
