Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Frontotemporal dementia, Astrocytosis, I... |
OMIM:600795 |
Sporadic Creutzfeldt-Jakob Disease |
|
Confusion, Cerebral atrophy, Astrocytosis, Dementia, Gliosis, Cognitive impairment, Memory impair... |
ORPHA:204 |
Focal Cortical Dysplasia, Type Ii |
|
Cognitive impairment, Astrocytosis |
OMIM:607341 |
Niemann-Pick Disease, Type B |
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Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Abnormal macular morphology... |
OMIM:607616 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Restlessness, Frontotemporal dementia, Temporal cortical ... |
ORPHA:100070 |
Inherited Creutzfeldt-Jakob Disease |
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Short attention span, Confusion, Progressive forgetfulness, Astrocytosis, Central nervous system ... |
ORPHA:282166 |
Cach Syndrome |
|
Cerebellar atrophy, Progressive neurologic deterioration, T2 hypointense thalamus, Optic atrophy,... |
ORPHA:135 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Cerebellar calcifications, Depression, Dementia, Thalamic calcification, Cognitive impairment, Me... |
OMIM:615483 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Depression, Pigmentary retinopathy, Deme... |
ORPHA:79264 |
Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Progressive neurologic deterioration, Hepatosplenomegaly |
OMIM:607624 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Cerebellar atrophy, Optic disc pallor, T2 hypointense thalamus, Cerebral atrophy, Dementia, Cogni... |
ORPHA:1947 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Familial Infantile Bilateral Striatal Necrosis |
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Optic atrophy, Astrocytosis, Atrophy/Degeneration involving the caudate nucleus, Dysphagia, Basal... |
ORPHA:225154 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Histiocytosis, Familial Lipochrome |
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Histiocytosis |
OMIM:235900 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis |
ORPHA:158025 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Thalamic calcification, Cerebellar calcifications |
OMIM:618824 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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Caudate atrophy, T2 hypointense thalamus, Dementia, Disinhibition, Memory impairment, Cerebral co... |
OMIM:618193 |
Aceruloplasminemia |
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Refractory anemia, Abnormality of retinal pigmentation, Abnormal dentate nucleus morphology, Abno... |
ORPHA:48818 |
Spinocerebellar Ataxia With Epilepsy |
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Acute hepatic failure, Progressive neurologic deterioration, Optic atrophy, Depression, Focal T2 ... |
ORPHA:254881 |
Ataxia-Pancytopenia Syndrome |
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Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Spl... |
ORPHA:2585 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Thalamic calcification, Brain atrophy, Dysphagia, Mental deterioration, Memory impairment |
OMIM:618317 |
Coasy Protein-Associated Neurodegeneration |
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Cognitive impairment, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
Cockayne Syndrome Type 3 |
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Progressive neurologic deterioration, Retinal degeneration, Hepatomegaly, Retinal atrophy, Renal ... |
ORPHA:90324 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cerebellar atrophy, Aciduria,... |
OMIM:203700 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
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Nephrocalcinosis, Astrocytosis |
OMIM:611087 |
Tubulinopathy-Associated Dysgyria |
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Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Attention def... |
ORPHA:467166 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Short attention span, Optic atrophy, Abnormal thalamic MRI signal intensity, ... |
ORPHA:845 |
Nphp3-Related Meckel-Like Syndrome |
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Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Leigh Syndrome |
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Progressive neurologic deterioration, Abnormal optic nerve morphology, Complex organic aciduria, ... |
ORPHA:506 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral atrophy |
OMIM:619057 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Retinal detachment, Fusion of the cerebellar hemispheres, Optic nerve h... |
ORPHA:370959 |
New-Onset Refractory Status Epilepticus |
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Cerebellar edema, Confusion, Abnormal thalamic MRI signal intensity, Cognitive impairment, Global... |
ORPHA:363558 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia |
OMIM:603552 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Short attention span, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of t... |
ORPHA:300570 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Hypospadias, Microcytic anemia, T lympho... |
ORPHA:2959 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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Decreased thalamic volume, Cerebral cortical atrophy, Cerebellar hypoplasia |
OMIM:619072 |
Alexander Disease Type I |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:363717 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholesta... |
OMIM:619858 |
Neuroferritinopathy |
|
Caudate atrophy, T2 hypointense thalamus, Subcortical dementia, Dysphagia, Abnormal thalamic MRI ... |
ORPHA:157846 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia |
ORPHA:158029 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Confusion, Aggressive behavior, Abnormal cerebellum morphology, Abnormal thalami... |
ORPHA:83597 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
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Diffuse cerebral atrophy, Decreased thalamic volume, Dysphagia |
OMIM:613668 |
Japanese Encephalitis |
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Decreased motor nerve conduction velocity, Neutrophilia, Facial palsy, Anorexia, Paucity of anter... |
ORPHA:79139 |
Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Irritability, Dysphagia, Gliosis, S... |
OMIM:601104 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Astrocytosis, Pontocerebellar atrophy, Cognitive impairment, Dysphagia |
ORPHA:258 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:158057 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Oral-pharyngeal dysphagia, Optic atrophy, Abnormal thalamic MRI signal intensity, Facial diplegia... |
ORPHA:254930 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morphology, Depression, Atroph... |
ORPHA:70595 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Splenomegaly, Dysphagia, De... |
OMIM:257220 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Progressive psychomotor deterioration, Cerebral atroph... |
OMIM:230600 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... |
ORPHA:485421 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Panhypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy,... |
ORPHA:309155 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:613101 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, ... |
OMIM:619306 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:404440 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hepatosplenomegaly,... |
ORPHA:167 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
Meningioma |
|
Papilledema, Enlarged pituitary gland, Hypothalamic hypothyroidism, Facial palsy, Urinary inconti... |
ORPHA:2495 |
Citrullinemia, Type Ii, Adult-Onset |
|
Confusion, Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ball... |
OMIM:603471 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Cholestasis, Leukopeni... |
ORPHA:292 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
ORPHA:435638 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... |
ORPHA:59315 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Decreased nerve... |
OMIM:214500 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology, Gliosis |
ORPHA:88619 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Dementia, Sea-blue histi... |
OMIM:607625 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:444013 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis |
OMIM:615122 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
ORPHA:158061 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... |
OMIM:614963 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Orthostatic hypotension, Atrophy of the spinal cord, Memory impairment, Hyp... |
ORPHA:2822 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Anemia, Ch... |
ORPHA:540 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology |
ORPHA:353 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Pr... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Pr... |
ORPHA:529799 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... |
ORPHA:101330 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Thrombocytopen... |
OMIM:603553 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Leukopenia, Irritability, Hemophagocytosi... |
OMIM:267700 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu... |
OMIM:301078 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Thalamic hemorrhage, Thrombocy... |
ORPHA:464321 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Aplasia/Hypoplasia of the cerebe... |
ORPHA:2720 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the ... |
ORPHA:456312 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Irritability, Hem... |
ORPHA:39812 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Confusion, Abnormal thalamic MRI signal ... |
ORPHA:79138 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:158048 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Hydranencephaly |
|
Dysgenesis of the thalamus, Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Cerebr... |
ORPHA:2177 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Cerebral cortical atrophy |
ORPHA:2570 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
Listeriosis |
|
Brain abscess, Liver abscess, Abscess, Jaundice, Peritonitis, Abnormal cellular immune system mor... |
ORPHA:533 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Jaundice, Decreased thalamic volume, Hepatosplenomegaly, Stomatocyt... |
ORPHA:168577 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal medulla oblongata morphology, Facial palsy, Confusion, Abnormal cerebellum... |
ORPHA:68 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Horseshoe kidney, Multiple renal cysts, Abnormal liver lobulation,... |
ORPHA:99776 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Stage 5 chronic kidney disease, Leukopenia, Aminoac... |
OMIM:222700 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... |
OMIM:602782 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Abnormal liver lobulation, Cystic renal dysplasia, Horseshoe kidney |
OMIM:608022 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Micropenis, Enlarged kidney, Histiocytosis |
ORPHA:168569 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Anterior pituitary ... |
ORPHA:227990 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Crescentic glomerulo... |
ORPHA:93126 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Retinal hemorrhage |
OMIM:608710 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Optic atrophy, Pituita... |
ORPHA:54595 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Anterior pituitary ... |
ORPHA:227982 |
Granulomatosis With Polyangiitis |
|
Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Hematuria, Granulomatosis, Ret... |
ORPHA:900 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, R... |
OMIM:306400 |
Duplication Of The Pituitary Gland |
|
Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Congenital stationary nigh... |
ORPHA:314621 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iron concentratio... |
OMIM:619991 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Eosinophilia, Portal hypertension, Facial pa... |
ORPHA:797 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Agenesis of corpus callosum, Partial agenesis of the corpus... |
OMIM:610828 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Abnormality of the diencephalon |
ORPHA:2165 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Proteinuria, Elevated circulating gr... |
ORPHA:79318 |
Williams Syndrome |
|
Hypoplasia of penis, Nephrocalcinosis, Compulsive behaviors, Vesicoureteral reflux, Pelvic kidney... |
ORPHA:904 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Choriocapillaris atrophy, Cirrhosis, Hepatic arteriovenous malformation, Polycythe... |
OMIM:600376 |
Usher Syndrome Type 3 |
|
Depression |
ORPHA:231183 |