Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia |
OMIM:238700 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Hyposmia, Intentio... |
OMIM:613724 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Huntington Disease-Like 2 |
|
Subcortical dementia, Depression, Weight loss, Irritability, Dementia, Dystonia, Memory impairmen... |
OMIM:606438 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... |
ORPHA:66624 |
Huntington Disease-Like 2 |
|
Memory impairment, Dystonia, Dementia, Weight loss |
ORPHA:98934 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Huntington Disease |
|
Bradyphrenia, Depression, Abnormality of the sense of smell, Weight loss, Irritability, Hostility... |
ORPHA:399 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoac... |
OMIM:234500 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi... |
OMIM:615994 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Optic atrophy, Anosmia, Facial palsy |
OMIM:144755 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, Rod-cone dystrophy, Obesity, Cone/cone-rod dystrophy |
OMIM:615996 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia, Obesity |
OMIM:617885 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas... |
OMIM:261600 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia |
OMIM:602079 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Anosmia, Obesity |
OMIM:610628 |
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 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Chronic Hiccup |
|
Depression, Weight loss |
ORPHA:396 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Perry Syndrome |
|
Tremor, Depression, Dementia, Weight loss |
ORPHA:178509 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Resting tremor, Dementia |
OMIM:607060 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Depression, Frontal lobe dementia, Dementia, Abnormal autonomic ner... |
ORPHA:2828 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Mental deterioration, Weight loss, Depression, Dementia, Low frustration toleranc... |
ORPHA:411602 |
Kleine-Levin Syndrome |
|
Confusion, Depression, Irritability, Transient global amnesia, Cognitive impairment, Parosmia |
ORPHA:33543 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Abnormality of the nose, Weight loss, Blepharospasm, Depressio... |
ORPHA:93958 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Tremor, Depression, Irritability, Dystonia, Mental deterioration |
OMIM:618093 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose |
OMIM:614838 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Anosmia, Total anosmia |
OMIM:614879 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia, Axonal dege... |
OMIM:601152 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia, Abnormal cranial nerve morphology |
ORPHA:2057 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory anomaly, Abnormality of t... |
ORPHA:91412 |
Kufor-Rakeb Syndrome |
|
Torticollis, Tremor, Anosmia, Dementia, Dystonia, Hyposmia |
OMIM:606693 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Cogni... |
ORPHA:216866 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Abnormal autonomic nervous system physiology, Anosmia, Abnormal nerve conduction velocity |
OMIM:243000 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:612702 |
Juvenile Huntington Disease |
|
Depression, Weight loss, Irritability, Dementia, Dystonia |
ORPHA:248111 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Dementia, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Mulibrey Nanism |
|
Wide nasal bridge, Cachexia |
ORPHA:2576 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge, Frontalis muscle weakness |
OMIM:210745 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... |
OMIM:616881 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... |
ORPHA:98818 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Choanal atresia, Bulbous nose, Anosmia, Failure to thrive |
ORPHA:2316 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:244200 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ... |
OMIM:609541 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Progressive neurologic deterioration, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100083 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re... |
ORPHA:320406 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Weight loss |
ORPHA:30925 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Anosmia, Choanal atresia |
OMIM:147950 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Cachexia, Tremor, Abnormality of macular pigmentation, Abnormal ... |
ORPHA:97229 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced b... |
ORPHA:100924 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Gorlin Syndrome |
|
Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Anosmia, Retinal degeneration |
OMIM:266500 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
Septo-Optic Dysplasia Spectrum |
|
Optic nerve hypoplasia, Septo-optic dysplasia, Anosmia, Obesity |
ORPHA:3157 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che... |
ORPHA:309246 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hyposmia, Anosmia |
OMIM:308700 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:614897 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Anosmia |
OMIM:308750 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Abnormality of the sense of smell |
OMIM:616113 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia |
OMIM:272800 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Central Diabetes Insipidus |
|
Depression, Failure to thrive, Weight loss |
ORPHA:178029 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Failure... |
OMIM:617864 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Torticollis, Oculogyric crisis, Limb tremor, Nasal congestion, Chor... |
OMIM:608643 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation, Anosmia |
ORPHA:773 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Perry Syndrome |
|
Tremor, Frontotemporal dementia, Depression, Weight loss, Dystonia |
OMIM:168605 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Anteverted nares, Failure to thrive in infancy, Choanal at... |
ORPHA:2162 |
Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
Isolated Succinate-Coq Reductase Deficiency |
|
Progressive psychomotor deterioration, Weight loss, Pigmentary retinopathy, Irritability, Dementi... |
ORPHA:3208 |
Gerstmann-Straussler Disease |
|
Tremor, Depression, Memory impairment, Weight loss, Dementia, Emotional lability |
OMIM:137440 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Tremor, Cranial nerve compression, Weig... |
ORPHA:94080 |
Leber Optic Atrophy |
|
Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb... |
OMIM:535000 |
Superficial Siderosis |
|
Partial anosmia, Anosmia, Abnormality of the vestibulocochlear nerve, Abnormality of the brachial... |
ORPHA:247245 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility |
OMIM:266265 |
Trigeminal Neuralgia |
|
Peripheral demyelination, Cranial nerve compression, Allodynia, Depression |
ORPHA:221091 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Retinoschisis, Action tremor |
OMIM:615651 |
Kallmann Syndrome |
|
Hyposmia, Tremor, Anosmia, Obesity |
ORPHA:478 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Huntington Disease-Like 1 |
|
Depression, Weight loss, Dementia, Cognitive impairment, Memory impairment |
ORPHA:157941 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Meningioma |
|
Papilledema, Facial palsy, Neurofibroma, Obesity, Abnormality of the sense of smell, Memory impai... |
ORPHA:2495 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb... |
ORPHA:298 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
Hirschsprung Disease |
|
Aganglionic megacolon, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Congenital Tufting Enteropathy |
|
Choanal atresia, Optic disc coloboma, Weight loss, Irritability, Failure to thrive |
ORPHA:92050 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Dystonia |
ORPHA:702 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Aggressive behavior, Dementia, Disinhibition, Attention defici... |
ORPHA:43 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Weight loss |
OMIM:275000 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... |
ORPHA:449291 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Weight loss |
ORPHA:42642 |
Christianson Syndrome |
|
Dystonia, Cachexia, Abnormality of the nose |
ORPHA:85278 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Depressed nasal bridge, Broad nasal tip, Abnormal retinal vascular morpholo... |
ORPHA:354 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Cachexia |
ORPHA:1389 |
Mcdonough Syndrome |
|
Underdeveloped nasal alae, Cachexia, Prominent nose |
ORPHA:2471 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Cachexia, Progressive ... |
ORPHA:206436 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss |
OMIM:613239 |
Rhabdoid Tumor |
|
Irritability, Weight loss |
ORPHA:69077 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Anteverted nares, Underdeveloped nasal alae, ... |
ORPHA:438216 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Depression, Weight loss, Abnormal glossopharyngeal nerve m... |
ORPHA:221098 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Wilson Disease |
|
Dystonia, Decreased nerve conduction velocity, Tremor, Hand tremor, Dementia, Limb dystonia, Hypo... |
OMIM:277900 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Fatal Familial Insomnia |
|
Dementia, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:600072 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Anteverted nares, Failure to thrive in infancy, Cachexia, Prominent nose, Prominent nasal bridge,... |
OMIM:616801 |
Flynn-Aird Syndrome |
|
Rod-cone dystrophy, Cachexia, Dementia |
ORPHA:2047 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Cachexia, Head titubation, Opisthotonus, Arm dystonia, Retrocollis, Dystonia, Oro... |
ORPHA:300605 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excreti... |
OMIM:252920 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Moebius Syndrome |
|
Facial palsy, Abnormality of the sense of smell |
ORPHA:570 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevated circulating... |
OMIM:619644 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Bone Dysplasia, Lethal Holmgren Type |
|
Anteverted nares, Failure to thrive, Depressed nasal ridge, Weight loss |
ORPHA:1842 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopeni... |
ORPHA:760 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anorexia |
ORPHA:1302 |
Waardenburg Syndrome, Type 2E |
|
Anosmia, Hypopigmentation of the fundus, Ocular albinism |
OMIM:611584 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... |
OMIM:610042 |
8P11.2 Deletion Syndrome |
|
Anosmia, Retinal dystrophy, Depressed nasal bridge |
ORPHA:251066 |
Polyarteritis Nodosa |
|
Polyneuritis, Sensory axonal neuropathy, Weight loss |
ORPHA:767 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ... |
ORPHA:276621 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu... |
ORPHA:36238 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine... |
OMIM:609727 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hyposmia, Anosmia, Absent nares, Single naris |
ORPHA:2250 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Optic atrophy, Depression, Memory imp... |
ORPHA:845 |
Benign Schwannoma |
|
Nasal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cran... |
ORPHA:252164 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Anteverted nares, Depressed nasal bridge |
OMIM:617301 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Wide nasal bridge, Cachexia |
ORPHA:1438 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Amoebiasis Due To Free-Living Amoebae |
|
Hyposmia, Irritability, Confusion, Facial palsy |
ORPHA:68 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Convex nasal ridge, Cachexia, Weight loss |
ORPHA:1979 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy, Cognitive impairment, Short nose, Failure to thrive |
OMIM:617527 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Weight loss |
ORPHA:79242 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... |
OMIM:207800 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Prominent nasal tip, ... |
OMIM:615574 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Facial diplegia, Cachexia, Dystonia |
OMIM:618186 |
Renpenning Syndrome |
|
Broad columella, Cachexia, Prominent nose |
ORPHA:3242 |
Kaposi Sarcoma |
|
Abnormal retinal morphology, Weight loss |
ORPHA:33276 |
Takayasu Arteritis |
|
Retinopathy, Weight loss |
ORPHA:3287 |
Wilson Disease |
|
Depression, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Aganglionic megacolon, Cachexia, Dystonia |
ORPHA:52503 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Anosmia |
OMIM:613266 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Chorioretinal atrophy, Weight loss, Irritability, Dystonia, Failure to thrive |
OMIM:619487 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal optic nerve morphology, Weight loss |
ORPHA:3226 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ... |
ORPHA:29072 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Weight loss, Dementia, Slender build, Allodynia |
OMIM:603041 |
Tetrasomy 12P |
|
Short nose, Anteverted nares, Cachexia |
ORPHA:884 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Anteverted nares, Prominent nasal bridge, Cachexia, Wide nasal bridge, Severe failure to thrive, ... |
ORPHA:371364 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Leishmaniasis |
|
Rhinitis, Weight loss |
ORPHA:507 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Dystonia, Short nose, Failure to thrive |
ORPHA:521426 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hyposmia, Obesity |
OMIM:618653 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Cachexia |
ORPHA:1933 |
Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response, Progressive psychomotor deterioratio... |
OMIM:268800 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Charge Syndrome |
|
Depressed nasal bridge, Facial palsy, Choanal atresia, Anosmia, Optic atrophy, Chorioretinal colo... |
ORPHA:138 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Optic atrophy, Prominent nose |
OMIM:617281 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Obesity, Weight loss, Attention deficit hyperactivity ... |
ORPHA:251071 |
Giant Cell Arteritis |
|
Epistaxis, Recurrent pharyngitis, Optic atrophy, Depression, Weight loss |
ORPHA:397 |
Rett Syndrome |
|
Motor deterioration, Cachexia, Dystonia |
OMIM:312750 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ganglioneuroma, Horner syndrome, Weight loss |
OMIM:256700 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
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 |
|
Wide nasal bridge, Cachexia |
ORPHA:2774 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Weight loss |
ORPHA:1332 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet cell adenoma, Weight loss |
ORPHA:97289 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia |
OMIM:619718 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Depression, Weight loss, Dimin... |
OMIM:607459 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Weight loss |
ORPHA:2070 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Optic atrophy, Confusion, Cachexia |
ORPHA:220295 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Aganglionic megacolon, Weight loss |
ORPHA:95427 |
Xfe Progeroid Syndrome |
|
Cachexia, Optic atrophy, Failure to thrive, Convex nasal ridge, Attenuation of retinal blood vessels |
OMIM:610965 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Lynch Syndrome |
|
Depression, Weight loss, Irritability, Attention deficit hyperactivity disorder, Memory impairment |
ORPHA:144 |
Bosma Arhinia Microphthalmia Syndrome |
|
Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Fryns-Smeets-Thiry Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Cachexia |
ORPHA:2058 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Aredyld Syndrome |
|
Abnormal nasal morphology, Cachexia |
ORPHA:1133 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Familial Colorectal Cancer Type X |
|
Depression, Weight loss, Irritability, Attention deficit hyperactivity disorder, Memory impairment |
ORPHA:440437 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
Felty Syndrome |
|
Recurrent pharyngitis, Rhinitis, Weight loss |
ORPHA:47612 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Emotional lability, Hyperactivity |
OMIM:620047 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Broad columella, Cachexia, Underdeveloped nasal alae |
ORPHA:217346 |
Leopard Syndrome 1 |
|
Hyposmia, Depressed nasal ridge |
OMIM:151100 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
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 |
Adrenocortical Carcinoma |
|
Irritability, Increased body weight, Weight loss |
ORPHA:1501 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Self-mutilation of tong... |
ORPHA:2388 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Acrodermatitis Enteropathica |
|
Emotional lability, Failure to thrive, Weight loss |
ORPHA:37 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
Short Syndrome |
|
Wide nasal bridge, Weight loss |
ORPHA:3163 |
X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Obesity, Cachexia, Prominent nose |
ORPHA:85293 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Celiac Disease, Susceptibility To, 1 |
|
Depression, Failure to thrive, Weight loss |
OMIM:212750 |
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 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Anteverted nares, Midline defect of the nose, Cachexia |
ORPHA:1969 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Seckel Syndrome |
|
Cognitive impairment, Convex nasal ridge, Cachexia |
ORPHA:808 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Weight loss |
ORPHA:520 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Granulomatosis With Polyangiitis |
|
Concave nasal ridge, Nasal mucosa vasculitis, Retinal hemorrhage, Weight loss |
OMIM:608710 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Poems Syndrome |
|
Papilledema, Weight loss |
ORPHA:2905 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Weight loss |
ORPHA:370348 |
Bronchial Neuroendocrine Tumor |
|
Pulmonary carcinoid tumor, Weight loss |
ORPHA:97287 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Carcinoid tumor, Weight loss |
ORPHA:100085 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
Malignant Atrophic Papulosis |
|
Abnormal optic nerve morphology, Weight loss |
ORPHA:679 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip... |
ORPHA:191 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Weight loss |
ORPHA:183 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Abnormal optic nerve morphology, Epistaxis, Weight loss |
ORPHA:79430 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... |
ORPHA:85443 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Lacrimoauriculodentodigital Syndrome |
|
Anosmia, Choanal atresia |
ORPHA:2363 |
Neuroendocrine Tumor Of Stomach |
|
Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100075 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Cachexia, Abnormal optic nerve morphology, Short nose |
ORPHA:109 |
Polycythemia Vera |
|
Epistaxis, Weight loss |
ORPHA:729 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:199299 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss |
ORPHA:465508 |
Whipple Disease |
|
Cachexia, Depression |
ORPHA:3452 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:71273 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Lysosomal Acid Lipase Deficiency |
|
Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive |
ORPHA:275761 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Choanal atresia, Cachexia, Cognitive impairment, Short nose |
ORPHA:3380 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Behçet Disease |
|
Confusion, Retrobulbar optic neuritis, Weight loss, Irritability, Optic neuritis, Memory impairme... |
ORPHA:117 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Simple Cryoglobulinemia |
|
Progressive neurologic deterioration, Weight loss |
ORPHA:91139 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Thyrotoxic Periodic Paralysis |
|
Tremor, Obesity, Abnormality of peripheral nerve conduction, Weight loss |
ORPHA:79102 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Charge Syndrome |
|
Facial palsy, Anosmia, Choanal atresia, Retinal coloboma |
OMIM:214800 |
Nijmegen Breakage Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Cachexia, Prominent nose, Attention deficit hyper... |
ORPHA:647 |
Riddle Syndrome |
|
Emotional lability, Recurrent sinusitis, Weight loss |
ORPHA:420741 |
Oculopharyngodistal Myopathy 1 |
|
Tremor, Facial palsy, Weight loss |
OMIM:164310 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Failure to thrive, Retinopathy, Weight loss |
ORPHA:99885 |
Multiple Endocrine Neoplasia Type 1 |
|
Short attention span, Confusion, Pancreatic endocrine tumor, Cranial nerve compression, Insulinom... |
ORPHA:652 |
Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Mucolipidosis Type Ii |
|
Depressed nasal bridge, Cognitive impairment, Weight loss |
ORPHA:576 |
Norrie Disease |
|
Narrow nasal bridge, Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyalo... |
ORPHA:649 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response |
OMIM:618367 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Schwartz-Jampel Syndrome |
|
Prominent nasal bridge, Cachexia, Blepharospasm, Irritability, Attention deficit hyperactivity di... |
ORPHA:800 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Anor... |
ORPHA:99827 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:95409 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Aicardi-Goutieres Syndrome 7 |
|
Irritability, Dystonia, Weight loss |
OMIM:615846 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Reactive Arthritis |
|
Cognitive impairment, Weight loss |
ORPHA:29207 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Progressive neurologic deterioration, Retinal pigment epithelial mo... |
OMIM:219800 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic endocrine tumor, Increased body weight, Weight loss, Pulmonary carcinoid tumor, Trunca... |
ORPHA:99889 |
Brucellosis |
|
Small for gestational age, Abnormality of the peripheral nervous system, Weight loss, Depression,... |
ORPHA:1304 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Granulomatosis With Polyangiitis |
|
Retinopathy, Abnormality of the nose, Epistaxis, Weight loss |
ORPHA:900 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, We... |
ORPHA:91500 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
African Trypanosomiasis |
|
Papilledema, Tremor, Weight loss, Choreoathetosis, Irritability, Optic neuritis, Delirium |
ORPHA:3385 |
Camurati-Engelmann Disease |
|
Facial palsy, Cachexia, Optic atrophy, Optic nerve compression, Slender build |
ORPHA:1328 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Abnormal optic nerve morphology, Weight loss |
ORPHA:79078 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Microsporidiosis |
|
Rhinitis, Cachexia, Weight loss |
ORPHA:2552 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Weight loss |
ORPHA:100078 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Zollinger-Ellison Syndrome |
|
Neuroendocrine neoplasm, Glucagonoma, Weight loss |
ORPHA:913 |
Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
Addison Disease |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:85138 |
Primary Sclerosing Cholangitis |
|
Depression, Weight loss |
ORPHA:171 |
Sarcoidosis, Susceptibility To, 1 |
|
Chorioretinitis, Optic neuropathy, Weight loss |
OMIM:181000 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Ppoma |
|
Intestinal carcinoid, Weight loss |
ORPHA:97278 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Grfoma |
|
Pheochromocytoma, Intestinal carcinoid, Weight loss |
ORPHA:97261 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Fanconi Anemia |
|
Aganglionic megacolon, Choanal atresia, Weight loss |
ORPHA:84 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Glucagonoma |
|
Depression, Weight loss |
ORPHA:97280 |
Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
Stickler Syndrome |
|
Retinal detachment, Anteverted nares, Depressed nasal bridge, Cachexia, Depressed nasal ridge, Ab... |
ORPHA:828 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Weight loss |
ORPHA:91347 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Wide na... |
OMIM:619522 |
Yellow Fever |
|
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Le... |
ORPHA:99829 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Vipoma |
|
Ganglioneuroma, Weight loss |
ORPHA:97282 |
Postinfectious Vasculitis |
|
Retinal vasculitis, Abnormality of the peripheral nervous system, Weight loss |
ORPHA:48435 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Marfan Syndrome |
|
Retinal detachment, Attention deficit hyperactivity disorder, Slender build, Cachexia |
ORPHA:558 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Juvenile Polyposis Of Infancy |
|
Depressed nasal bridge, Cachexia |
ORPHA:79076 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Papilledema, Cachexia |
ORPHA:2072 |
Hutchinson-Gilford Progeria Syndrome |
|
Narrow nasal tip, Narrow nasal ridge, Weight loss, Abnormal nasal tip morphology, Severe failure ... |
ORPHA:740 |
Nocardiosis |
|
Chorioretinitis, Weight loss |
ORPHA:31204 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia |
ORPHA:438213 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |