Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Low-set ears |
OMIM:601163 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Facial diplegia, Testicular atrophy |
OMIM:160900 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Hypothyro... |
OMIM:222300 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... |
OMIM:305400 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Male hypogonadism, Macrotia, ... |
ORPHA:90321 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction |
ORPHA:206448 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Sensorineural hear... |
OMIM:157640 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Mend Syndrome |
|
Cryptorchidism, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Asymmetry of the ears, Cryptorchidism, Cupped ear, EEG abnormality, Abnormality of t... |
ORPHA:3063 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Gm1 Gangliosidosis |
|
Failure to thrive, Weight loss |
ORPHA:354 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Weight loss |
OMIM:619487 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:212750 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss |
ORPHA:370348 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:199299 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Whipple Disease |
|
Cachexia |
ORPHA:3452 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Mucolipidosis Type Ii |
|
Weight loss |
ORPHA:576 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Schwartz-Jampel Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:800 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Aicardi-Goutieres Syndrome 7 |
|
Weight loss |
OMIM:615846 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Brucellosis |
|
Failure to thrive, Small for gestational age, Weight loss |
ORPHA:1304 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Fanconi Anemia |
|
Weight loss |
ORPHA:84 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss |
OMIM:219800 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Behçet Disease |
|
Weight loss |
ORPHA:117 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Cockayne Syndrome |
|
Cachexia |
ORPHA:191 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Camurati-Engelmann Disease |
|
Slender build, Cachexia |
ORPHA:1328 |
Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia |
ORPHA:2072 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
Sarcoidosis |
|
Weight loss |
ORPHA:797 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
African Trypanosomiasis |
|
Weight loss |
ORPHA:3385 |
Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
Spinocerebellar Ataxia 40 |
|
|
OMIM:616053 |
Spinocerebellar Ataxia Type 40 |
|
|
ORPHA:423275 |