Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Huntington Disease-Like 2 |
|
Inertia, Weight loss, Apathy, Dementia, Dystonia, Action tremor, Subcortical dementia, Anxiety, I... |
OMIM:606438 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Hyperlysinuria, Cognitive impairment, Anemia |
OMIM:238700 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Huntington Disease |
|
Aggressive behavior, Memory impairment, Weight loss, Suicidal ideation, Anxiety, Apathy, Irritabi... |
ORPHA:399 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Huntington Disease-Like 2 |
|
Dementia, Dystonia, Memory impairment, Weight loss |
ORPHA:98934 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Intention tremor, Hyposmia |
OMIM:613724 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Bardet-Biedl Syndrome 19 |
|
Rod-cone dystrophy, Obesity, Hyposmia |
OMIM:615996 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness, Hyp... |
OMIM:605899 |
Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Cognitive impairment, Hyposmia, Cone/cone-rod dystrophy, Retinal degeneration... |
OMIM:615994 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Anosmia, Hyposmia, Facial palsy |
OMIM:144755 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Anosmia, Hyposmia |
OMIM:617885 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Emotional lability |
OMIM:617028 |
Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Aggressive behavior, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Anosmia, Hyposmia |
OMIM:610628 |
Young-Onset Parkinson Disease |
|
Cognitive impairment, Hyposmia, Frontal lobe dementia, Abnormal autonomic nervous system physiolo... |
ORPHA:2828 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity disorder, Emotional la... |
OMIM:234500 |
Parkinson Disease 8, Autosomal Dominant |
|
Dementia, Resting tremor, Hyposmia |
OMIM:607060 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Hereditary Late-Onset Parkinson Disease |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hyposmia, Resting tremor, Apat... |
ORPHA:411602 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Anosmia |
OMIM:614879 |
Perry Syndrome |
|
Tremor, Apathy, Dementia, Weight loss |
ORPHA:178509 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Bifid nose, Hyposmia |
OMIM:614838 |
Kufor-Rakeb Syndrome |
|
Aggressive behavior, Hyposmia, Torticollis, Dementia, Tremor, Anosmia, Dystonia |
OMIM:606693 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Anosmia, Axonal dege... |
OMIM:601152 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Spinocerebellar Ataxia 48 |
|
Anxiety, Cachexia, Tremor, Mental deterioration, Irritability, Dystonia |
OMIM:618093 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nasal septum, Anosmia, Short nose |
OMIM:302950 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Abnormal cranial nerve morphology, Anosmia |
ORPHA:2057 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Increa... |
OMIM:261600 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity, Anosmia, Hyposmia |
OMIM:243000 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Morning glory anomaly, Abnormal fifth cranial nerve morphology... |
ORPHA:91412 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:612702 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Optic atrophy |
ORPHA:1672 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Dementia, Weight loss |
OMIM:605543 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
Riboflavin Transporter Deficiency |
|
Aggressive behavior, Abnormal autonomic nervous system physiology, Cachexia, Tremor, Abnormal cra... |
ORPHA:97229 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Frontalis muscle weakness, Anosmia, Wide nasal bridge |
OMIM:210745 |
Mulibrey Nanism |
|
Cachexia, Wide nasal bridge |
ORPHA:2576 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Increased urinary disaccharide excretion |
OMIM:248510 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Cognitive impairment, Weight loss, Optic disc pallor, Opisthotonus, Generaliz... |
ORPHA:216866 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Failure to thrive, Anosmia, Bulbous nose, Facial palsy |
ORPHA:2316 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:244200 |
Oromandibular Dystonia |
|
Blepharospasm, Weight loss, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Gen... |
ORPHA:93958 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy, Failure to thrive, Prolonged brainstem auditory evok... |
OMIM:616881 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Progressive neurologic deterioration, Weight loss |
OMIM:612075 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, ... |
OMIM:609541 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100083 |
Juvenile Huntington Disease |
|
Dystonia, Irritability, Dementia, Weight loss |
ORPHA:248111 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Tay-Sachs Disease |
|
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia, Cherry red spot of the... |
OMIM:272800 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... |
OMIM:619827 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Mental deterioration |
OMIM:615924 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Anosmia, Hyposmia, Choanal atresia |
OMIM:147950 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Optic atrop... |
ORPHA:320406 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Weight loss |
ORPHA:30925 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Micropenis |
ORPHA:75858 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy, Anosmia |
OMIM:266500 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Wide nasal bridge |
ORPHA:377 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Increased level of gamma-aminobutyri... |
OMIM:271980 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hyp... |
OMIM:618314 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Anosmia, Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Anosmia, Hyposmia |
OMIM:308700 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614897 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Eunuchoid habitus |
OMIM:308750 |
Non-Functioning Paraganglioma |
|
Cranial nerve compression, Weight loss, Paraganglioma of head and neck, Tremor, Hypertensive reti... |
ORPHA:94080 |
Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor... |
OMIM:147250 |
Perry Syndrome |
|
Frontotemporal dementia, Weight loss, Suicidal ideation, Apathy, Tremor, Anxiety, Dystonia |
OMIM:168605 |
Johnson Neuroectodermal Syndrome |
|
Choanal stenosis, Anosmia, Facial palsy |
OMIM:147770 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Short nose |
ORPHA:1295 |
Congenital Hypothyroidism |
|
Anosmia, Depressed nasal ridge, Optic atrophy, Anxiety |
ORPHA:442 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety |
ORPHA:3198 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Vitreous floaters, Weight loss |
ORPHA:85447 |
Refsum Disease |
|
Retinopathy, Anosmia, Abnormality of retinal pigmentation |
ORPHA:773 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response |
OMIM:618201 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Anxiety |
ORPHA:178029 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Holoprosencephaly |
|
Absent nares, Aplasia/Hypoplasia involving the nose, Retinopathy, Cognitive impairment, Depressed... |
ORPHA:2162 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb tremor, Limb dystonia, Torticollis, Choreoathet... |
OMIM:608643 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior |
ORPHA:101039 |
Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ... |
OMIM:535000 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Christianson Syndrome |
|
Conspicuously happy disposition, Cachexia, Dystonia, Abnormality of the nose |
ORPHA:85278 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Exaggerated startle response, Irritability, Optic nerve hypoplasia |
OMIM:617864 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Motor deterioration, Dementia, Irritability, Pigmentary retinopathy, Progressive psy... |
ORPHA:3208 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Gerstmann-Straussler Disease |
|
Aggressive behavior, Weight loss, Emotional lability, Dementia, Tremor, Memory impairment |
OMIM:137440 |
Superficial Siderosis |
|
Cognitive impairment, Dementia, Partial anosmia, Anosmia, Abnormality of the brachial nerve plexu... |
ORPHA:247245 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Retinoschisis, Chorioretinal atrophy, Action tremor, Optic neuropathy |
OMIM:615651 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Kallmann Syndrome |
|
Tremor, Obesity, Anosmia, Hyposmia |
ORPHA:478 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Meningioma |
|
Cognitive impairment, Papilledema, Facial palsy, Neurofibromas, Emotional lability, Abnormality o... |
ORPHA:2495 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Weight loss, Decreased motor nerve conduction velocity, Cachexia, Dementia, Decreased sensory ner... |
ORPHA:298 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis |
OMIM:244400 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Abnormal autonomic nervous system physiology, Torticollis, Aganglionic megacolon, Absent brainste... |
OMIM:609136 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Hydron... |
OMIM:620141 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose |
ORPHA:284160 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Pa... |
ORPHA:276621 |
Citrullinemia Type Ii |
|
Hyperactivity, Aggressive behavior, Memory impairment, Irritability, Acute hyperammonemia, Hypopr... |
ORPHA:247585 |
Hirschsprung Disease |
|
Aganglionic megacolon, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-injurious behavior |
OMIM:620023 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Optic atrophy, Choreoathetosis, Cachexia, Dystonia |
ORPHA:702 |
Trigeminal Neuralgia |
|
Allodynia, Episodic paroxysmal anxiety, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Congenital Tufting Enteropathy |
|
Weight loss, Irritability, Failure to thrive, Optic disc coloboma, Choanal atresia |
ORPHA:92050 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Weight loss |
OMIM:275000 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Weight loss |
ORPHA:42642 |
Hodgkin Lymphoma |
|
Weight loss |
ORPHA:98293 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Anxiety |
OMIM:266265 |
Huntington Disease-Like 1 |
|
Cognitive impairment, Memory impairment, Dementia, Weight loss |
ORPHA:157941 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
Gm1 Gangliosidosis |
|
Cognitive impairment, Depressed nasal ridge, Weight loss, Optic atrophy, Failure to thrive, Depre... |
ORPHA:354 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Short nose |
ORPHA:1389 |
Mcdonough Syndrome |
|
Underdeveloped nasal alae, Cachexia, Prominent nose |
ORPHA:2471 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss |
OMIM:613239 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Cachexia, Psychomotor deterioratio... |
ORPHA:206436 |
Wilson Disease |
|
Hyposmia, Limb dystonia, Hand tremor, Dementia, Tremor, Decreased nerve conduction velocity, Dyst... |
OMIM:277900 |
Rhabdoid Tumor |
|
Irritability, Weight loss |
ORPHA:69077 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Acute kidney injury, Neutrophilia, Hematuria, Elev... |
ORPHA:91547 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Urinary bladder sphincter dysfunction, ... |
ORPHA:43 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Underdeveloped nasal alae, Exaggerated startle response, Wide nasal bridge, Broad nasal tip, Ante... |
ORPHA:438216 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology, Dementia, Weight loss |
OMIM:600072 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Flynn-Aird Syndrome |
|
Rod-cone dystrophy, Cachexia, Dementia |
ORPHA:2047 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Retrocollis, Cognitive impairment, Opisthotonus, Cachexia, Axial dystonia, Head titubation, Oroma... |
ORPHA:300605 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Apathy, Dystonia, Dementia |
OMIM:272750 |
Moebius Syndrome |
|
Abnormality of the sense of smell, Facial palsy |
ORPHA:570 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Prominent nose, Cachexia, Anteverted nares, Bulbous nose, Prominent... |
OMIM:616801 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Weight loss, Schwannoma, A... |
ORPHA:221098 |
Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety |
OMIM:184850 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, ... |
ORPHA:1930 |
Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Failure to thrive, Depressed nasal ridge, Anteverted nares |
ORPHA:1842 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Re... |
ORPHA:29072 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Polyarteritis Nodosa |
|
Polyneuritis, Sensory axonal neuropathy, Weight loss |
ORPHA:767 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Enlarged naris, Self-injurious behavior, Wide nasal bridge, Cachexia, Severe failure to thrive, A... |
ORPHA:371364 |
8P11.2 Deletion Syndrome |
|
Retinal dystrophy, Depressed nasal bridge, Anosmia |
ORPHA:251066 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia, Anxiety |
OMIM:619718 |
Waardenburg Syndrome, Type 2E |
|
Hypopigmentation of the fundus, Anosmia, Ocular albinism |
OMIM:611584 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Anosmia, Hyposmia |
ORPHA:2250 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Facial diplegia, Cachexia, Dystonia |
OMIM:618186 |
Benign Schwannoma |
|
Allodynia, Scleral schwannoma, Nasal polyposis, Schwannoma, Abnormality of the twelfth cranial ne... |
ORPHA:252164 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration, Splenomegaly, Heparan s... |
OMIM:252920 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Exaggerated startle response, Depressed nasal bridge, Anteverted nares |
OMIM:617301 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Wide nasal bridge |
ORPHA:1438 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Convex nasal ridge, Weight loss |
ORPHA:1979 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Hyperactivity, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia, Urin... |
OMIM:609727 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Optic atrophy, Short nose, Failure to thrive |
OMIM:617527 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Kaposi Sarcoma |
|
Abnormal retinal morphology, Weight loss |
ORPHA:33276 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Weight loss |
ORPHA:79242 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Optic atrophy, Failure to thrive, Chorioretinal atrophy, Irritability, Dystonia, Sel... |
OMIM:619487 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Wilson Disease |
|
Failure to thrive, Aggressive behavior, Weight loss, Increased body weight |
ORPHA:905 |
Renpenning Syndrome |
|
Broad columella, Cachexia, Prominent nose |
ORPHA:3242 |
Takayasu Arteritis |
|
Retinopathy, Weight loss |
ORPHA:3287 |
Amoebiasis Due To Free-Living Amoebae |
|
Irritability, Hyposmia, Facial palsy |
ORPHA:68 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Anosmia |
OMIM:613266 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal optic nerve morphology, Weight loss |
ORPHA:3226 |
Tetrasomy 12P |
|
Cachexia, Anteverted nares, Short nose |
ORPHA:884 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Decreased nerve conduction velocity |
ORPHA:1933 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce... |
ORPHA:54251 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Leishmaniasis |
|
Rhinitis, Weight loss |
ORPHA:507 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Allodynia, Cachexia, Dementia, Slender build |
OMIM:603041 |
Tay-Sachs Disease |
|
Exaggerated startle response, Optic atrophy, Tremor, Dystonia, Laryngeal dystonia, Anxiety, Memor... |
ORPHA:845 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:330001 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Short nose, Failure to thrive, Dystonia |
ORPHA:521426 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Cherry red spot of the macula, Progressive... |
OMIM:268800 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Al... |
ORPHA:36238 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309155 |
Asparagine Synthetase Deficiency |
|
Failure to thrive, Exaggerated startle response |
OMIM:615574 |
Rett Syndrome |
|
Motor deterioration, Cachexia, Dystonia |
OMIM:312750 |
Choreoacanthocytosis |
|
Hair-pulling, Blepharospasm, Limb dystonia, Abnormal autonomic nervous system physiology, Self-mu... |
ORPHA:2388 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Hyposmia |
OMIM:618653 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Horner syndrome, Ganglioneuroma, Weight loss |
OMIM:256700 |
Adrenocortical Carcinoma |
|
Anxiety, Weight loss, Panic attack, Irritability, Increased body weight |
ORPHA:1501 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Wide nasal bridge |
ORPHA:2774 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Thymic Neuroendocrine Tumor |
|
Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm, Weight loss |
ORPHA:97289 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Psoriasis 14, Pustular |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:614204 |
Medullary Thyroid Carcinoma |
|
Weight loss, Pheochromocytoma |
ORPHA:1332 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1302 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Charge Syndrome |
|
Optic atrophy, Facial palsy, Depressed nasal bridge, Anosmia, Chorioretinal coloboma, Abnormal cr... |
ORPHA:138 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reactive protein c... |
ORPHA:829 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Eosinophilic Gastroenteritis |
|
Weight loss, Allergic rhinitis |
ORPHA:2070 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
X-Linked Intellectual Disability, Cabezas Type |
|
Aggressive behavior, Prominent nose, Cachexia, Tremor, Obesity |
ORPHA:85293 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Aganglionic megacolon, Weight loss |
ORPHA:95427 |
Xfe Progeroid Syndrome |
|
Convex nasal ridge, Optic atrophy, Cachexia, Attenuation of retinal blood vessels, Failure to thrive |
OMIM:610965 |
Bosma Arhinia Microphthalmia Syndrome |
|
Anosmia, Aplasia of the nose, Choanal atresia |
OMIM:603457 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Argininemia |
|
Hyperactivity, Oroticaciduria, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Irritability |
OMIM:207800 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Retinal dysplasia, Exaggerated startle response, Optic atrophy |
OMIM:253800 |
Fryns-Smeets-Thiry Syndrome |
|
Narrow nasal bridge, Cachexia, Prominent nasal bridge |
ORPHA:2058 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Cognitive impairment, Weight loss, Retinal pigment epithelial mottling, Emotional lability, Demen... |
OMIM:607459 |
Aredyld Syndrome |
|
Abnormal nasal morphology, Cachexia |
ORPHA:1133 |
8P23.1 Microdeletion Syndrome |
|
Weight loss, Wide nasal bridge, Short nose, Obesity, Prominent nasal bridge |
ORPHA:251071 |
Felty Syndrome |
|
Rhinitis, Recurrent pharyngitis, Weight loss |
ORPHA:47612 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... |
OMIM:617099 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Leopard Syndrome 1 |
|
Depressed nasal ridge, Hyposmia |
OMIM:151100 |
Giant Cell Arteritis |
|
Epistaxis, Optic atrophy, Recurrent pharyngitis, Weight loss |
ORPHA:397 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
19Q13.11 Microdeletion Syndrome |
|
Broad columella, Failure to thrive, Cachexia, Underdeveloped nasal alae |
ORPHA:217346 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, Dystonia, Cherry red spot ... |
ORPHA:79255 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Lynch Syndrome |
|
Irritability, Memory impairment, Weight loss, Anxiety |
ORPHA:144 |
Short Syndrome |
|
Weight loss, Wide nasal bridge |
ORPHA:3163 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Apathy, Weight loss |
ORPHA:465508 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Familial Colorectal Cancer Type X |
|
Irritability, Memory impairment, Weight loss, Anxiety |
ORPHA:440437 |
Acrodermatitis Enteropathica |
|
Emotional lability, Failure to thrive, Weight loss |
ORPHA:37 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Weight loss, Anxiety |
OMIM:212750 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Anteverted nares, Midline defect of the nose |
ORPHA:1969 |
Seckel Syndrome |
|
Cachexia, Convex nasal ridge, Cognitive impairment |
ORPHA:808 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Beta-Ketothiolase Deficiency |
|
Apathy, Weight loss |
ORPHA:134 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abscess |
OMIM:612852 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Weight loss |
ORPHA:520 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Poems Syndrome |
|
Papilledema, Weight loss |
ORPHA:2905 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperactivity, Emotional lability |
OMIM:620047 |
Bronchial Neuroendocrine Tumor |
|
Pulmonary carcinoid tumor, Weight loss |
ORPHA:97287 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Weight loss |
ORPHA:370348 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Carcinoid tumor, Neuroendocrine neoplasm, Weight loss |
ORPHA:100085 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Cachexia, Optic atrophy |
ORPHA:220295 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Cockayne Syndrome |
|
Pigmentary retinopathy, Retinal hemorrhage, Retinal arteriolar constriction, Convex nasal ridge, ... |
ORPHA:191 |
Malignant Atrophic Papulosis |
|
Abnormal optic nerve morphology, Weight loss |
ORPHA:679 |
Hermansky-Pudlak Syndrome |
|
Epistaxis, Abnormal optic nerve morphology, Weight loss, Ocular albinism |
ORPHA:79430 |
Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat... |
ORPHA:3243 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Neutrophilia, Elevated circulating C-reactive... |
OMIM:249100 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Weight loss |
ORPHA:183 |
Al Amyloidosis |
|
Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction, Weight loss, Postur... |
ORPHA:85443 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Concave nasal ridge, Weight loss |
OMIM:608710 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Charge Syndrome |
|
Retinal coloboma, Choanal atresia, Anosmia, Self-mutilation, Facial palsy |
OMIM:214800 |
Neuroendocrine Tumor Of Stomach |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss, Paraganglioma |
ORPHA:100075 |
Lacrimoauriculodentodigital Syndrome |
|
Anosmia, Choanal atresia |
ORPHA:2363 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Cachexia, Short nose, Anteverted nares, Abnormal optic nerve morphology |
ORPHA:109 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Polycythemia Vera |
|
Epistaxis, Weight loss |
ORPHA:729 |
Silver-Russell Syndrome |
|
Cachexia, Failure to thrive in infancy, Obesity |
ORPHA:813 |
Lysosomal Acid Lipase Deficiency |
|
Cognitive impairment, Weight loss, Cachexia, Psychomotor deterioration, Failure to thrive |
ORPHA:275761 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:71273 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:199299 |
Simple Cryoglobulinemia |
|
Progressive neurologic deterioration, Weight loss |
ORPHA:91139 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apathy, Weight loss |
ORPHA:20 |
Thyrotoxic Periodic Paralysis |
|
Tremor, Obesity, Abnormality of peripheral nerve conduction, Weight loss |
ORPHA:79102 |
Trisomy 18 |
|
Cognitive impairment, Cachexia, Abnormality of retinal pigmentation, Short nose, Choanal atresia |
ORPHA:3380 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss |
ORPHA:2126 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Retinopathy, Peripheral axonal neuropathy, Weight loss |
ORPHA:99885 |
Riddle Syndrome |
|
Emotional lability, Recurrent sinusitis, Weight loss |
ORPHA:420741 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Oculopharyngodistal Myopathy 1 |
|
Tremor, Weight loss, Facial palsy |
OMIM:164310 |
Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Cachexia, Abnormal chorioretinal morphology, Failure to t... |
ORPHA:649 |
Behçet Disease |
|
Retinopathy, Weight loss, Optic neuritis, Retrobulbar optic neuritis, Irritability, Memory impair... |
ORPHA:117 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Nijmegen Breakage Syndrome |
|
Convex nasal ridge, Prominent nose, Cachexia, Depressed nasal bridge, Mental deterioration, Promi... |
ORPHA:647 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Memory impairment, Suicidal ideation, Weight loss, Anxiety, Pancreatic endocrine tumor, Atypical ... |
ORPHA:99889 |
Mucolipidosis Type Ii |
|
Depressed nasal bridge, Cognitive impairment, Weight loss |
ORPHA:576 |
Reactive Arthritis |
|
Cognitive impairment, Weight loss |
ORPHA:29207 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Aicardi-Goutieres Syndrome 7 |
|
Irritability, Dystonia, Weight loss |
OMIM:615846 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:95409 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight |
ORPHA:2298 |
Schwartz-Jampel Syndrome |
|
Blepharospasm, Decreased body weight, Cachexia, Anxiety, Irritability, Prominent nasal bridge |
ORPHA:800 |
Whipple Disease |
|
Cachexia |
ORPHA:3452 |
African Trypanosomiasis |
|
Aggressive behavior, Weight loss, Papilledema, Apathy, Choreoathetosis, Optic neuritis, Tremor, A... |
ORPHA:3385 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Cystinosis, Nephropathic |
|
Retinopathy, Weight loss, Retinal pigment epithelial mottling, Progressive neurologic deteriorati... |
OMIM:219800 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Granulomatosis With Polyangiitis |
|
Epistaxis, Retinopathy, Weight loss, Abnormality of the nose |
ORPHA:900 |
Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Weight loss |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Small intestine carcinoid, Weight loss |
ORPHA:100077 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Camurati-Engelmann Disease |
|
Optic nerve compression, Optic atrophy, Cachexia, Slender build, Facial palsy |
ORPHA:1328 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal optic nerve morphology, Optic nerve compression, Weight loss |
ORPHA:79078 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Zollinger-Ellison Syndrome |
|
Glucagonoma, Neuroendocrine neoplasm, Weight loss |
ORPHA:913 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Multiple Endocrine Neoplasia Type 1 |
|
Cranial nerve compression, Weight loss, Pancreatic endocrine tumor, Intestinal carcinoid, Pheochr... |
ORPHA:652 |
Ppoma |
|
Intestinal carcinoid, Weight loss |
ORPHA:97278 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Macular edema, Weight loss, Choroidal neovascularization, Abnormality of ret... |
ORPHA:91500 |
Grfoma |
|
Intestinal carcinoid, Weight loss, Pheochromocytoma |
ORPHA:97261 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Hepatocellular Carcinoma |
|
Emotional lability, Weight loss |
ORPHA:88673 |
Microsporidiosis |
|
Cachexia, Rhinitis, Weight loss |
ORPHA:2552 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Chorioretinitis, Weight loss |
OMIM:181000 |
Addison Disease |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:85138 |
Brucellosis |
|
Chorioretinitis, Weight loss, Small for gestational age, Failure to thrive, Abnormality of the pe... |
ORPHA:1304 |
Yellow Fever |
|
Anuria, Renal insufficiency, Acute kidney injury, Hyperbilirubinemia, Neutrophilia, Elevated circ... |
ORPHA:99829 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Vipoma |
|
Ganglioneuroma, Weight loss |
ORPHA:97282 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Fanconi Anemia |
|
Aganglionic megacolon, Weight loss, Choanal atresia |
ORPHA:84 |
Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Failure to thrive in infancy |
ORPHA:37042 |
Stickler Syndrome |
|
Depressed nasal ridge, Cachexia, Short nose, Depressed nasal bridge, Anteverted nares, Retinal de... |
ORPHA:828 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Weight loss |
ORPHA:91347 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Postinfectious Vasculitis |
|
Retinal vasculitis, Weight loss, Abnormality of the peripheral nervous system |
ORPHA:48435 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Juvenile Polyposis Of Infancy |
|
Depressed nasal bridge, Cachexia |
ORPHA:79076 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Cachexia |
ORPHA:2072 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Wide nasal bridge, Short nose, Broad nasal tip, Anteverted nares, L... |
OMIM:619522 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Hutchinson-Gilford Progeria Syndrome |
|
Convex nasal ridge, Narrow nasal ridge, Weight loss, Narrow nasal tip, Severe failure to thrive, ... |
ORPHA:740 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Nocardiosis |
|
Chorioretinitis, Weight loss |
ORPHA:31204 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Optic disc pallor, Dystonia |
ORPHA:438213 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Marfan Syndrome |
|
Slender build, Cachexia, Retinal detachment |
ORPHA:558 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Proteus Syndrome |
|
Retinal hamartoma, Cachexia, Abnormality of retinal pigmentation, Depressed nasal bridge, Retinal... |
ORPHA:744 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Sarcoidosis |
|
Facial palsy, Weight loss, Abnormal nasal mucosa morphology |
ORPHA:797 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |