Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... |
OMIM:613490 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, EEG abnormality, Sparse body hair, Alopecia unive... |
ORPHA:1008 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Idiopathic Bronchiectasis |
|
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, Bronchie... |
ORPHA:60033 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hammertoe, Gait disturbance, Ulnar claw, Hepatic steatosis, Mildly... |
OMIM:618400 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Hy... |
ORPHA:436 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Pili torti, Sparse body hair... |
ORPHA:202 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, S... |
OMIM:612674 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... |
ORPHA:573 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails... |
ORPHA:2325 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Subcapsular cataract, Microtia, Sensorineural hearing impairment |
OMIM:275630 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Cataract, Subcapsular cataract, Hearing impairment |
ORPHA:414 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary i... |
OMIM:612387 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... |
OMIM:129500 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment |
ORPHA:123 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Limitation... |
ORPHA:171719 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Decreased DLCO, Aminoaciduria, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemi... |
OMIM:618913 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... |
ORPHA:170 |
Retinitis Pigmentosa 13 |
|
Subcapsular cataract, Optic disc drusen |
OMIM:600059 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Posteriorly rotated ears |
OMIM:615458 |
Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Alopecia, Alopecia of scalp, Cataract |
OMIM:136300 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough |
ORPHA:64741 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:612572 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Sensorineural hearing impairment |
ORPHA:2574 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Nail dystrop... |
ORPHA:2890 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Long eyelashes, Sparse hair |
OMIM:275400 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Hepatomegaly, Ataxia, Splenomegaly, Dyspnea, Emphysema, Arthritis, Restrictive... |
ORPHA:36412 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:619048 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia, Developmental cataract |
OMIM:212360 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys... |
OMIM:613658 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Protruding ear, Abnormality of the... |
ORPHA:317 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation |
OMIM:614100 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:619386 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Recurrent respiratory infections, Metaphyseal dysplasia, Hepatomegaly, Rhizome... |
ORPHA:1842 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cough, Dyspnea, Elev... |
OMIM:615486 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hair shafts flat... |
OMIM:262000 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor |
OMIM:614278 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Decreased circulating plasmalogen concentration, Rhiz... |
OMIM:222765 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy |
OMIM:618195 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Protruding ear, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged... |
ORPHA:2251 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, EEG abnormality, Macrotia, Sparse body hair, Aplasia/Hypoplasia of t... |
ORPHA:2850 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Respirato... |
ORPHA:26792 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:615233 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Conj... |
OMIM:612843 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Subcapsular cataract |
OMIM:268020 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Flat glenoid fossa, Flexion contracture, Cutaneous finger ... |
OMIM:224690 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Posterior subcapsular cataract |
OMIM:300619 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:600132 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... |
OMIM:612526 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo... |
ORPHA:2962 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:602772 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruction, Weight lo... |
ORPHA:141152 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Abnormal pulmonary interstit... |
OMIM:619013 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy |
OMIM:616469 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Inability to walk, Respiratory fai... |
ORPHA:70472 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Tuberculosis |
|
Cough, Abnormal lung morphology, Weight loss |
ORPHA:3389 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract |
OMIM:601813 |
Birt-Hogg-Dubé Syndrome |
|
Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:180105 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipose tissue, Loss of s... |
OMIM:608709 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... |
OMIM:618805 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:615434 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hyperlipidemia, Osteoporosis, Increased ... |
ORPHA:369 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia |
OMIM:615704 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Osteopenia, Lipodystrophy, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn... |
ORPHA:1572 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, E... |
OMIM:242700 |
Infantile Liver Failure Syndrome 1 |
|
Long toe, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Long fingers, Failu... |
OMIM:615438 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Posterior subcapsular cataract, Cataract, Sparse hair |
OMIM:616200 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:613810 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Delayed closure of the anterior fonta... |
ORPHA:357074 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Arachnodactyly, Homocystinuria, Methioninuria, Limitation of joint mobility, Ost... |
OMIM:236200 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Emphysema, Pulmonary fibrosis, Portal hypertension |
OMIM:620365 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Corneal erosion, Abnormality of the nail, Hearing impairment |
ORPHA:79394 |
Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus, Obesity, Postaxial f... |
OMIM:615996 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Elevated circulating creatine kinase concentration, Osteolysis, Increased suscepti... |
ORPHA:52430 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Cataract, Alopecia totalis |
ORPHA:1366 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:611131 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary inte... |
OMIM:181000 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... |
OMIM:256810 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes... |
OMIM:615980 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair |
ORPHA:1839 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Large hands, C... |
ORPHA:528 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:613983 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Sandal gap, Elevated circulating creatine kinase con... |
ORPHA:79322 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... |
OMIM:615381 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... |
ORPHA:3032 |
Gyrate Atrophy Of Choroid And Retina |
|
Posterior subcapsular cataract |
OMIM:258870 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract |
OMIM:617304 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Patellar aplasia, Slender long bone, Emphysema, Failure to thrive |
OMIM:613804 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepatic steatosis |
OMIM:618234 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Sensorineural hearing impairment, Abnormal toenail morphology, Abnormality of the nail,... |
ORPHA:494 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee f... |
OMIM:608836 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Hearing impairment |
ORPHA:337 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema, Aminoaciduria, Asthma |
ORPHA:634 |
Chromosome Xp11.3 Deletion Syndrome |
|
Posterior subcapsular cataract, Cataract, Optic atrophy |
OMIM:300578 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ... |
OMIM:606069 |
Hypomelanosis Of Ito |
|
Alopecia, Cataract, Iris coloboma |
OMIM:300337 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:617547 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Corneal opacity, Nail dystrophy, Atrichia |
ORPHA:1867 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Palmoplantar keratoderma, Clubbing of toes, Weight loss |
ORPHA:2198 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract |
OMIM:618173 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cronkhite-Canada Syndrome |
|
Alopecia, Cataract, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Pat... |
ORPHA:2930 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long... |
OMIM:617523 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemia,... |
OMIM:264700 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:212140 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration... |
ORPHA:668 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Pneumothorax, Joint hyperflex... |
OMIM:614816 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Osteopenia, Sandal gap, J... |
OMIM:613177 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Failure to thrive |
OMIM:612075 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Small earlobe, Alopecia, Subcapsular cataract, Sensorineural hearing impairment |
ORPHA:98907 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ... |
ORPHA:400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemia,... |
OMIM:600081 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Sandal gap, Small for gestational age, Tracheobronchomalacia, P... |
OMIM:616835 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Elevated circulating as... |
ORPHA:2088 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Osteomyelitis, Pneumonia, Productive cough, Nonproductive co... |
ORPHA:31204 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Hyperhidrosis, Weight loss |
ORPHA:86893 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Osteolysis, Respiratory insufficiency, Hyperhidrosis, Weight ... |
ORPHA:391 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Alstrom Syndrome |
|
Progressive sensorineural hearing impairment, Alopecia, Subcapsular cataract |
OMIM:203800 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy |
ORPHA:79084 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Restrictive ventilatory defect, Abnor... |
ORPHA:369840 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract |
OMIM:133780 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Ulnar deviation of the 3rd finger, Congenital hip dislocation, Foot joint contractu... |
ORPHA:456312 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Crackles, Respiratory tract infection, Cough, Dyspnea, Wh... |
ORPHA:79128 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
ORPHA:247585 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Cataract, Sensorineural hearing impairment, Thin eyebrow... |
ORPHA:3242 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Osteolysis, Weight loss |
ORPHA:100024 |
Schwannomatosis, Vestibular |
|
Bilateral vestibular schwannoma, Unilateral vestibular schwannoma, Cortical cataract, Juvenile po... |
OMIM:101000 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... |
OMIM:619377 |
Fabry Disease |
|
Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Abnormal femur morphology, Respiratory in... |
ORPHA:324 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Sensorineural hearing impairment, Developmental cataract |
OMIM:215100 |
Sarcoidosis |
|
Abnormal lung morphology, Cough, Emphysema, Hepatomegaly, Scarring, Portal hypertension, Bone cys... |
ORPHA:797 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial... |
ORPHA:732 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Genu valgum, Aplasia/Hypoplasia of the lungs, Abnormal pelvic... |
ORPHA:289 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, EEG abnormality, Alopecia, Cataract |
ORPHA:2047 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Myotonic Dystrophy 2 |
|
Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Frontal balding |
OMIM:602668 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Cataract, Sparse body hair |
ORPHA:177 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Lipodystrophy, Ele... |
OMIM:613327 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... |
ORPHA:404454 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Abnormal intrahepatic bile duct morphology, Hypercholesterolem... |
ORPHA:363618 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Pfapa Syndrome |
|
Hepatomegaly, Recurrent pharyngitis, Splenomegaly, Weight loss, Arthritis |
ORPHA:42642 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Felty Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Recurrent pharyngitis, Splenomegaly, R... |
ORPHA:47612 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hepat... |
ORPHA:14 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity |
OMIM:620195 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Optic atrophy, Protruding ear, Developmental cataract, Small nai... |
OMIM:614219 |
Neonatal Marfan Syndrome |
|
Long toe, Neonatal respiratory distress, Arachnodactyly, Small for gestational age, Lipoatrophy, ... |
ORPHA:284979 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Flexi... |
ORPHA:1979 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste... |
OMIM:610198 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypophosphate... |
OMIM:241530 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Short humerus, Short femur, Hepa... |
ORPHA:17 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Osteopenia, Multiple joint contractures,... |
ORPHA:2959 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Wide anterior fontanel, Jaundice, Generalized aminoaciduria, ... |
OMIM:231680 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Tibial bowing, Femoral bowi... |
ORPHA:289157 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Large fleshy ears, Alopecia |
OMIM:203550 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaph... |
OMIM:219100 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Por... |
ORPHA:465508 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Aminoaciduria, Gait distu... |
ORPHA:436271 |
Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Protruding ear, Low-set ears, Iris colob... |
ORPHA:85284 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo... |
ORPHA:2834 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Splenomegaly, Flexion cont... |
ORPHA:77297 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Hepatic steatosis, Foot polydactyly, Multiple lipomas |
ORPHA:210548 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Hepatosple... |
OMIM:209950 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Ataxia, Camptodactyly of finger, Joint stiffne... |
ORPHA:354 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Hyperlipidemia, Obesity, Toe clinoda... |
ORPHA:254346 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Elevated circulating C-reactive protein concentration, Pleural thickening, Asthm... |
OMIM:619632 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Respiratory distress, Conjugated hyperbilirubine... |
OMIM:617156 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Sinusitis, Abnormal lung morphology, Recurrent pneumonia, Hepatitis, Weight loss, ... |
ORPHA:47 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Microtia, Horner syndrome, Poliosis |
OMIM:141300 |
Marfan Syndrome |
|
Osteopenia, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Spontaneous pneumothorax, Prot... |
ORPHA:558 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Conductive hearing impairment, Protrudi... |
ORPHA:2316 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c... |
OMIM:614594 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Ataxia, ... |
OMIM:616263 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Limitation of joint mobility, Flexion contracture, Respiratory insufficiency, Joint hyp... |
ORPHA:157973 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating... |
ORPHA:90060 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... |
ORPHA:79083 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Di... |
ORPHA:98897 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplasia, Opacificat... |
OMIM:158310 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Exertional dyspnea, Weight loss |
ORPHA:100083 |
Short Syndrome |
|
Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearin... |
ORPHA:3163 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Bilateral ta... |
OMIM:619708 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Ataxia, Abnormal subcutaneous fat tissue... |
OMIM:212065 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hyperglycinuria |
OMIM:201450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Ami... |
OMIM:220110 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary ... |
OMIM:617303 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Delayed cranial suture closure, Wide anterior fontanel, Pneumothor... |
ORPHA:90349 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Posterior subcapsular cataract, Astigmatism, Progressive hearing impairment |
OMIM:619234 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Low plasma citr... |
OMIM:261680 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Failure to thrive... |
OMIM:619418 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Abnormal auditory evoked potentials, Synophrys, Sensorineural hearin... |
OMIM:619260 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Tachypnea, Hyperammonemia, Hepa... |
OMIM:201475 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis, Reduced bone mineral density |
ORPHA:977 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Weight loss |
ORPHA:545 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Hyperhidrosis, Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Very long chain fatty acid accumulation,... |
OMIM:261515 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Osteoporosi... |
OMIM:619487 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Slen... |
ORPHA:2774 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Sinusitis, Recurrent bronchitis, Short hallux, Prematur... |
OMIM:245150 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Pterygium |
ORPHA:525 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Inguinal hernia, Absent in utero ossificati... |
OMIM:608022 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Protruding ear, EEG abnormality, Dystrophic toenail, ... |
ORPHA:3253 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Optic atrophy, Nail pits, Fine ... |
OMIM:308300 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Sensorineural hearing impairment, Conjunctivitis, Sparse hair, Fragile nails |
OMIM:242150 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis |
ORPHA:79085 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Cataract, Abnormal fingernail morphology, Opacification of the corneal stroma |
ORPHA:3453 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Elevated circulating C-reactive protein concentrati... |
ORPHA:54251 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Atelectasis, Hypersensitivity pn... |
ORPHA:2902 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Arachnodactyly, Protrusio acetabuli, Genu recurvatum, Equinu... |
OMIM:154700 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypsarrhythmia |
OMIM:309400 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Respiratory insufficiency, Respirat... |
ORPHA:746 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Retroperitoneal fibrosis, Dyspnea, Abnorma... |
ORPHA:35687 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Finger joint h... |
OMIM:130050 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Gait ataxia, Weight loss, Progressive cerebellar ataxia |
ORPHA:248111 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Unicameral bone cyst, Generalized lipodys... |
ORPHA:79086 |
Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... |
ORPHA:333 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ... |
ORPHA:412 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Arachnodactyly, Failure to thrive in infancy, Sagit... |
ORPHA:500150 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Inguinal hernia, Wormian bones, Genu recurvatum, Delayed cranial suture... |
ORPHA:90348 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Iris coloboma |
ORPHA:88630 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Rhinitis, Hypoalbuminemia |
ORPHA:507 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Liver abscess, Cholangitis, Abnormal pelvis bone morphology, Portal hypertension,... |
ORPHA:284 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormal lung morphology, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer... |
OMIM:618329 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Joint laxity, Cholestasis, Hepatosplenomegaly, Drumstick terminal ... |
ORPHA:541423 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglycerid... |
ORPHA:79259 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Respiratory insufficiency, Hernia, Weight loss |
ORPHA:26790 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary inter... |
ORPHA:97287 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Osteoporosis, Osteolysis, Hepatosplenomegaly, Weight loss, El... |
ORPHA:98850 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearin... |
OMIM:616367 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Elevated circulating C-reactive protein c... |
ORPHA:1302 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:228308 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Hypercalcemia, Respiratory insufficiency, Weight loss |
ORPHA:69077 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Jaundice, Hyperlipidemia, Hepatospl... |
ORPHA:444490 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Clubbing, In... |
ORPHA:747 |
Huntington Disease |
|
Inability to walk, Weight loss, Abnormal circulating cholesterol concentration, Gait disturbance,... |
ORPHA:399 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine... |
OMIM:615356 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... |
ORPHA:79126 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Atelectasis, Achilles tendon contracture, Los... |
ORPHA:254361 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Optic... |
ORPHA:364055 |
Aredyld Syndrome |
|
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... |
ORPHA:1133 |
Keutel Syndrome |
|
Alopecia, Optic atrophy, Hearing impairment |
ORPHA:85202 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail |
ORPHA:2584 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy |
OMIM:613843 |
Spondyloocular Syndrome |
|
Cataract, Posteriorly rotated ears, Posterior subcapsular cataract, Sensorineural hearing impairm... |
OMIM:605822 |
Alport Syndrome |
|
Posterior subcapsular cataract, Sensorineural hearing impairment, Abnormal corneal endothelium mo... |
ORPHA:63 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Increased susceptibility to fractures, Weight loss, Tip-toe gait, Gait disturb... |
ORPHA:216866 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic stea... |
OMIM:124000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:212138 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Dyspnea, Weight loss, Elevated circul... |
ORPHA:67 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Osteoporosis, Weight... |
ORPHA:398063 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight loss, Elevated circulating alkal... |
ORPHA:330001 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Pneumothorax, Choreoathetosis, Respiratory failure, Hepatic steatosis |
ORPHA:445038 |
Aromatase Deficiency |
|
Eunuchoid habitus, Osteopenia, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe... |
ORPHA:91 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
Christianson Syndrome |
|
Cachexia, Gait ataxia, Joint hyperflexibility, Truncal ataxia, Arthrogryposis multiplex congenita... |
ORPHA:85278 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Posteriorly rotated ears, Supernumerary nipple, Sensorineural hearing impairment, Protr... |
ORPHA:3224 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Corneal opacity, Optic nerve hypoplasia, Po... |
ORPHA:536471 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Kury-Isidor Syndrome |
|
Alopecia, Astigmatism, Low-set ears, Hypertrichosis |
OMIM:619762 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Optic atrophy, Protruding ... |
OMIM:230740 |
Monosomy 13Q34 |
|
Hypercalcemia, Epistaxis, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Osteoc... |
ORPHA:96168 |
Diencephalic Syndrome |
|
Hyperhidrosis, Large hands, Cachexia, Decreased body weight |
ORPHA:1672 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Tapered finger, Inability to... |
OMIM:616801 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:608594 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Cachexia, Joint stiffness |
ORPHA:1144 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Sandal gap, Delaye... |
OMIM:619127 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... |
ORPHA:98908 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Ataxia, Recurrent pneumonia, Flexion contracture, Choreoathetos... |
OMIM:616271 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Sympathetic Ophthalmia |
|
Papilledema, Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the ant... |
ORPHA:79098 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Cough, Pan... |
OMIM:619991 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder... |
ORPHA:171 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concent... |
OMIM:617253 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Short palm, Abnormalit... |
ORPHA:79474 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo... |
ORPHA:85408 |
Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Alopecia, Posteriorly rotated ears, Opacification of the corneal stroma |
OMIM:601853 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, Ne... |
ORPHA:83469 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the lung, Neopl... |
ORPHA:2126 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Apnea |
OMIM:210200 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis, Sensorineural hearing impairment |
ORPHA:79395 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hearing impairment, Sparse eyebrow, Fi... |
OMIM:129400 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Bilateral vestibular schwannoma, Posterior subcapsular cataract, Sensorineural hear... |
ORPHA:637 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Corneal opacity, External ear malformation, Iris colobo... |
ORPHA:1647 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Popliteal pt... |
ORPHA:1234 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hepatomegaly, Jaundice, Bicarbonaturia, H... |
OMIM:229600 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Ataxia, Cachexia, Dysmetria |
OMIM:618093 |
Adams-Oliver Syndrome |
|
Alopecia, Cataract, Aplastic/hypoplastic toenail, EEG abnormality, Absent fingernail, Sparse hair... |
ORPHA:974 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Weight loss, Respiratory failure |
ORPHA:3226 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Broad-base... |
OMIM:610978 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Ataxia, Jaundice, Tachypn... |
ORPHA:20 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Prominent metopic ridge, Limited shoulde... |
ORPHA:576 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Monosomy 18P |
|
Alopecia, Protruding ear, Low posterior hairline, Abnormal antihelix morphology, Macrotia |
ORPHA:1598 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary arter... |
OMIM:123700 |
Huntington Disease-Like 1 |
|
Dysmetria, Gait ataxia, Abnormal shoulder morphology, Weight loss, Gait disturbance |
ORPHA:157941 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Joint stiffness |
ORPHA:1216 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Respiratory failure, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Cataract, Underfolded helix, Absen... |
OMIM:268400 |
Giant Cell Arteritis |
|
Ataxia, Epistaxis, Abnormal pleura morphology, Joint stiffness, Recurrent pharyngitis, Weight los... |
ORPHA:397 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Ataxia, Osteoporosis, Rickets, Weight loss, Hypocalcemia, Steatorr... |
OMIM:212750 |
Viss Syndrome |
|
Generalized joint laxity, Emphysema, Long toe, Joint laxity, Arachnodactyly, Patent ductus arteri... |
OMIM:619472 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Steatorrhea, Hepatic failure |
ORPHA:75233 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Failure to thrive, Weight loss |
ORPHA:33355 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Sparse eyebrow, Sca... |
ORPHA:35173 |
Nephroblastoma |
|
Neoplasm of the lung, Neoplasm of the liver, Weight loss |
ORPHA:654 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Emphysema, Pulmonary artery ane... |
OMIM:614437 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, Ta... |
OMIM:618278 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Cataract, Keratoconjunctivitis, Tympanosclerosis, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Loss of ambulation, Ataxia, Weight loss |
ORPHA:3208 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... |
OMIM:180300 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Cac... |
ORPHA:85293 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Ataxia, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Low-set ea... |
ORPHA:2067 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Ataxia, Micr... |
OMIM:203700 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment |
ORPHA:659 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Nonproductive cough, Dyspnea, Abnorm... |
ORPHA:85443 |
Takayasu Arteritis |
|
Hyperhidrosis, Weight loss, Arthritis, Pulmonary arterial hypertension, Abnormal pattern of respi... |
ORPHA:3287 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Ataxia, Cachexia, Joint stiffness... |
ORPHA:702 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Weight loss |
ORPHA:517 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Schwartz-Jampel Syndrome |
|
Apnea, Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, Wrist flexion c... |
ORPHA:800 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respiratory tract... |
OMIM:210900 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Osteomyelitis, Pneumonia, Sple... |
ORPHA:781 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Pancreatic islet cell adenoma, Weight loss, Increased circulating cort... |
ORPHA:97289 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L... |
ORPHA:79330 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Increased circulating free fatty acid level,... |
ORPHA:293964 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, Hy... |
OMIM:270400 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Resp... |
ORPHA:93941 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Asplenia, Elbow dislocation, Patent duct... |
ORPHA:99776 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Breast aplasia, Hearing impair... |
ORPHA:90153 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thro... |
ORPHA:729 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory... |
ORPHA:2905 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Abnormal antihelix morphology, Abnormal helix morpho... |
ORPHA:1005 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529799 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Corneal erosion, Conjunctivitis, ... |
ORPHA:37 |
Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Alopecia, Sensorineural hearing impairment |
OMIM:135100 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Respiratory insufficiency, Arthritis,... |
ORPHA:3452 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Low-set ears, Fine hair |
ORPHA:228390 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Cholelithiasis |
OMIM:619273 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
Polyarteritis Nodosa |
|
Abnormal lung morphology, Pleuritis, Elevated circulating C-reactive protein concentration, Weigh... |
ORPHA:767 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, 2-3 toe syndactyly, Respiratory insufficie... |
OMIM:618186 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Dyspnea, Hepatitis, Weight loss, Interstiti... |
ORPHA:139402 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Abnormal motor evoked potentials, Alopecia, Hearing impairment |
ORPHA:412057 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial m... |
OMIM:620233 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Respi... |
OMIM:168605 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Atax... |
ORPHA:699 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Orthop... |
ORPHA:365 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Neoplasm of the lung, Strid... |
ORPHA:142 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Systemic Capillary Leak Syndrome |
|
Rhinorrhea, Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Pancreatitis, Pulmona... |
ORPHA:188 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... |
ORPHA:2309 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Neonatal asp... |
ORPHA:420741 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Thin nail, Small nail |
OMIM:242100 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Sparse eyelashes, Hypsarrhythmia |
OMIM:610768 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarp... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarp... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarp... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarp... |
ORPHA:881 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Steatorrhea, F... |
ORPHA:95427 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia |
ORPHA:363717 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Riboflavin Transporter Deficiency |
|
Ataxia, Respiratory insufficiency, Cachexia |
ORPHA:97229 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Posteriorly rotated ears, Corneal dystrophy, Patchy alopecia, Low-set ears, Sparse hair, Hearing ... |
OMIM:617763 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... |
OMIM:609136 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj... |
OMIM:106260 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Keratoconjunctivitis |
ORPHA:79242 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Paten... |
OMIM:300868 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Increased circulating ferritin concentration, Hepatitis, W... |
OMIM:615846 |
Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Steatorrhea, Failure to thrive |
ORPHA:92050 |
Brucellosis |
|
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... |
ORPHA:1304 |
Focal Myositis |
|
Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Ric... |
OMIM:219800 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Tachypnea, Hyperammonemia, Weight loss, Hyperuricemia, Cough |
ORPHA:134 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Low-set ears, Small nail, Macrotia |
ORPHA:166035 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short palm, Hepatomegaly, Atelectasis, Short toe, Patent ductus arteriosus, R... |
OMIM:269860 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Cachexia, Small hand, Elbow flexion contracture, Knee flexion co... |
ORPHA:371364 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Cellulitis, Weight loss |
ORPHA:3165 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Wide anterior fontanel, Hepatosplenomegaly, Weight loss, Hyperbilirub... |
OMIM:613673 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Peritonitis, Weight loss |
ORPHA:168811 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Weight loss |
ORPHA:100080 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly, Increased circulat... |
ORPHA:824 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Abnormal ... |
ORPHA:36426 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Postaxial hand polydactyly, Cachexia |
ORPHA:1389 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes |
OMIM:137940 |
Yao Syndrome |
|
Arthritis, Asthma, Pleuritis, Weight loss |
OMIM:617321 |
Thymic Carcinoma |
|
Hyperhidrosis, Dyspnea, Cough, Weight loss |
ORPHA:99868 |
Incontinentia Pigmenti |
|
Alopecia, Cataract, Abnormal fingernail morphology, Corneal opacity, Supernumerary nipple, Abnorm... |
ORPHA:464 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Asthma, Weight loss, Hy... |
ORPHA:2070 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Ataxia, Elevated circulating glu... |
ORPHA:66634 |
Biotinidase Deficiency |
|
Alopecia, Optic atrophy, Conjunctivitis, Sensorineural hearing impairment |
OMIM:253260 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Abnormality of the spleen, Patent duc... |
ORPHA:1606 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Steinert Myotonic Dystrophy |
|
Alopecia, Early balding, Posterior subcapsular cataract, Facial diplegia, Astigmatism |
ORPHA:273 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... |
ORPHA:1501 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Hearing impairment |
OMIM:613990 |
Adrenoleukodystrophy |
|
Alopecia, Hearing impairment |
OMIM:300100 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Respirato... |
ORPHA:537 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Sézary Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:3162 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Weight loss |
ORPHA:312 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hepatitis, Gener... |
ORPHA:199299 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss |
ORPHA:86884 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Asthma, Respiratory i... |
ORPHA:183 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
Leigh Syndrome |
|
Alopecia, Cataract, Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Frontal hirs... |
ORPHA:506 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... |
ORPHA:251071 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Protruding ear |
ORPHA:85279 |
Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy, Adducted thumb |
ORPHA:388 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Posterior subcapsular cataract |
OMIM:271510 |
Biotinidase Deficiency |
|
Alopecia, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Conjunctivitis, Hear... |
ORPHA:79241 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Progressive hearing impairment |
ORPHA:453533 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joi... |
ORPHA:536467 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Pneumonia, Abnormality of body weight, Abnormal circula... |
ORPHA:2298 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Flexion contracture... |
OMIM:619503 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97261 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion... |
ORPHA:90362 |
Reactive Arthritis |
|
Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Respiratory in... |
ORPHA:29207 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Abnormal eyelash... |
ORPHA:1775 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Weight loss |
ORPHA:100082 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cranios... |
ORPHA:821 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Absent toenail, Absent fingernail, A... |
ORPHA:158687 |
Cockayne Syndrome B |
|
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Abnormal hair morpholog... |
OMIM:133540 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Keratitis, Sensorineural hearing impairment, Opt... |
ORPHA:910 |
Non-Functioning Paraganglioma |
|
Episodic hyperhidrosis, Hypercalcemia, Weight loss |
ORPHA:94080 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Alopecia, Sclerocornea |
OMIM:613001 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Ogden Syndrome |
|
Congenital hip dislocation, Apnea, Microvesicular hepatic steatosis, Macrovesicular hepatic steat... |
OMIM:300855 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Joint laxity, Broad-based gait, Osteomyelitis, Ataxia, Overweight,... |
OMIM:619475 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Gait distu... |
ORPHA:144 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Dyspnea, Postaxial hand polydactyly, Tachypnea, Postaxial foot polydactyly,... |
OMIM:243910 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Gait ataxia, Short foot, Truncal at... |
OMIM:312750 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Hypocalcemia, Cachexia, Tapered finger |
ORPHA:1438 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Respiratory distress, Osteomyeli... |
ORPHA:37042 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hepatic steatosis, Loss of facial adipose tissue, Long toe, Ataxia, 2-3 toe syndactyl... |
ORPHA:3455 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Optic atrophy, Conjunctivitis, Macrotia, Abnormali... |
ORPHA:90321 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Abnormality of the seventh cranial nerve, Abnormal a... |
ORPHA:548 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Corneal opacity |
OMIM:163200 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbum... |
OMIM:610965 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Alopecia, Sensorineural hearing impairment, Conductive hearing... |
ORPHA:96129 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Graves Disease, Susceptibility To, 1 |
|
Hyperhidrosis, Weight loss |
OMIM:275000 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Cupped ear, Popl... |
OMIM:263650 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern, Sensorineural hearing impairment |
ORPHA:2315 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Recurrent respiratory infections, Osteomyelitis, Splenomegaly, Bronchie... |
OMIM:614162 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Increased susceptibility to fractures, Weight loss, Ele... |
ORPHA:98849 |
Acute Monoblastic/Monocytic Leukemia |
|
Increased circulating lactate dehydrogenase concentration, Exertional dyspnea, Ankle swelling, We... |
ORPHA:514 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Lower-limb joint contracture, ... |
ORPHA:300605 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Apnea, Ataxia, Weight loss |
OMIM:600072 |
Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Developmental cataract, ... |
ORPHA:2108 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Patent ductus arteriosus, 2-3 toe syndactyly, Joint contracture of the 5th finger, ... |
OMIM:619934 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
Focal Dermal Hypoplasia |
|
Alopecia, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Abnormality of the nail, Low-s... |
ORPHA:2092 |
Linear Nevus Sebaceus Syndrome |
|
EEG abnormality, Alopecia, Iris coloboma |
ORPHA:2612 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Abnormal lung morphology, Arthritis, Weight loss |
ORPHA:91139 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Respiratory insufficiency due to muscle we... |
ORPHA:97282 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Failure to thrive,... |
ORPHA:2020 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Acantholysis, Weight loss |
ORPHA:704 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertrichosis, Corneal arcus, Hearing impairment |
ORPHA:168569 |
Microsporidiosis |
|
Osteomyelitis, Sinusitis, Pneumonia, Cachexia, Bronchitis, Cholangitis, Abnormality of the spleen... |
ORPHA:2552 |
Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Dyspnea, Jaundice, Weight l... |
ORPHA:160 |
Tetrasomy 12P |
|
Joint hyperflexibility, Cachexia, Hypohidrosis |
ORPHA:884 |
Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Atelectasis, Splenomegaly, Recurrent pneumonia, Patent ductus ar... |
OMIM:188400 |
Macs Syndrome |
|
Sparse hair, Alopecia, Sparse eyebrow |
OMIM:613075 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97278 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97283 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Thymoma |
|
Dyspnea, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Rheumatoid arthritis, Cough |
ORPHA:99867 |
Cockayne Syndrome A |
|
Dry hair, Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... |
OMIM:216400 |
Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sparse hair, Small earlob... |
OMIM:181270 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Low-set ears, Sparse hair |
OMIM:613451 |
Silver-Russell Syndrome |
|
Sandal gap, Failure to thrive in infancy, Cachexia, Obesity, Hyperhidrosis, Abnormal appendicular... |
ORPHA:813 |
Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Abnormal circulating creatine concentration, Joint hyperflexibility, Athetosis |
ORPHA:52503 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Bronchospasm, Hepatic failure |
ORPHA:100075 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Generalized aminoaciduria, Weight loss, Increased sus... |
ORPHA:3337 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... |
ORPHA:84 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Corneal scarring, Conjunctivitis, Hypertrichosis |
OMIM:263700 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Respiratory insufficiency... |
OMIM:608710 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Genu valgum, Abdominal obesity, Azotemia, Hepatic steatosis |
OMIM:619321 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Pterygium of nails, Optic atrophy,... |
OMIM:305000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Alopecia totalis |
OMIM:618775 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal lung mo... |
ORPHA:449395 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Optic atrophy, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Abnormal pinna morphology, Sparse eyebrow, Patchy alopecia, Sparse ha... |
OMIM:302960 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility |
ORPHA:2058 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Respiratory insufficiency, Weight loss, Progres... |
OMIM:607459 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating C-reactive protein conc... |
ORPHA:50918 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
Igg4-Related Aortitis |
|
Asthma, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy |
ORPHA:90154 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Pneumonia, Bronchitis, Osteomalacia, Elevated circulating C-reactive protein conce... |
OMIM:619381 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis, Hearing impairment |
OMIM:277440 |
Ane Syndrome |
|
Alopecia |
ORPHA:157954 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Corneal opacity, Aganglionic megacolon, Abnormal eyela... |
ORPHA:2273 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Prominent metopic ridge, Ataxia, Weight loss, Lower-limb joint contracture, Ar... |
ORPHA:99885 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Ataxia, Microvesicular hepatic steatosis, Tachypnea, ... |
OMIM:220111 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Peritonitis, Respiratory failure, Weight loss |
ORPHA:679 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Weight loss, Exertional dyspnea |
ORPHA:520 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97280 |
Loeffler Endocarditis |
|
Cough, Dyspnea, Weight loss |
ORPHA:75566 |
Mixed Connective Tissue Disease |
|
Keratoconjunctivitis sicca, Alopecia |
ORPHA:809 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Elev... |
ORPHA:900 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Pneumonia, Elevated circulating C-re... |
ORPHA:48435 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Sensorineural hearing impairment, Protruding ear, Fine hair, Sparse hair, Hearing impai... |
OMIM:241080 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Juve... |
ORPHA:2909 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Protruding ear, Bilat... |
ORPHA:69085 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy |
OMIM:614008 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Inc... |
ORPHA:95409 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Aganglionic megacolon, Abs... |
OMIM:308205 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Abnormality of the s... |
ORPHA:2072 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Pa... |
ORPHA:143 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Hypercapnia, Re... |
OMIM:164310 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Cough, Atelectasis, Splenomegaly, Recurrent pneumonia... |
OMIM:306400 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Cone-shaped epiphysis,... |
ORPHA:808 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Failure to thrive |
ORPHA:361 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Macrotia, Optic atrophy, Protruding ear, Developmental cataract, EEG abnormality, EEG w... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Macrotia, Optic atrophy, Protruding ear, Developmental cataract, EEG abnormality, EEG w... |
ORPHA:363958 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal lung lobation, Abnormal finger morphology, Clinodactyly of the 5th f... |
ORPHA:744 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Corneal opacity, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Macrotia, Keratoconjunctivitis sicca, Alopecia, Astigmatism |
ORPHA:536532 |
Behçet Disease |
|
Ataxia, Pulmonary embolism, Splenomegaly, Weight loss, Arthritis, Gait disturbance, Pleural effus... |
ORPHA:117 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Failure to thrive, Epistaxis, Pulmona... |
ORPHA:2929 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Anhidrosis, Ata... |
ORPHA:191 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Developmental cataract, Sparse or absent eyelashes, Nail dysplasia, Sparse hair... |
ORPHA:221008 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Jaundice, Extrahepatic cholestasis, Weight loss, Multiple lipomas, Increased circu... |
ORPHA:913 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Flexion contracture, B... |
ORPHA:99921 |
Familial Thrombocytosis |
|
Hyperhidrosis, Splenomegaly, Pulmonary arterial hypertension, Weight loss |
ORPHA:71493 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Weight loss |
OMIM:137440 |
Relapsing Polychondritis |
|
Alopecia, Cataract, Chondritis of pinna, Keratitis, Sensorineural hearing impairment, Conjunctivitis |
ORPHA:728 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Alopecia universalis |
OMIM:606367 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Dyspnea, Weight loss, Aspirati... |
ORPHA:1018 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:256700 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis |
ORPHA:293978 |
Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic steatos... |
ORPHA:64 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Epistaxis, Dyspnea, Weight loss, Hyperkeratosis, Pulmonary fib... |
ORPHA:79430 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Cataract, Low-set ears |
ORPHA:401973 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hyperhidros... |
ORPHA:79102 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Developmental cataract, Sparse or absent eyelashes, Nail dysplasia, Sparse hair... |
ORPHA:221016 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Brachydactyly, Cachexia, Short palm |
ORPHA:3217 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Coxa valga, Joint stiffness, Limited wrist movement, Osteoarthr... |
ORPHA:740 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic hyperhidrosis, Hypercalcemia, Weight loss |
ORPHA:276621 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hirsutism |
ORPHA:90795 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Postaxial hand p... |
ORPHA:3380 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Hepatic failure, Extrahepatic cholestasis, Weight loss |
ORPHA:100078 |
Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Respiratory insuffi... |
ORPHA:221 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Low-set ears, Sparse hair, Hearing impairment |
OMIM:311200 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrop... |
ORPHA:79318 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Coarse hair, Sparse hair, Hearing impairment |
ORPHA:2750 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
Behcet Syndrome |
|
Hypopyon, Patchy alopecia, Iritis |
OMIM:109650 |
Immunodeficiency 7 |
|
Patchy alopecia |
OMIM:615387 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Generalized bone... |
ORPHA:85138 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Posteriorly rotated ears, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Low-se... |
ORPHA:3107 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Cataract, Posteriorly rotated ears... |
OMIM:264090 |
Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Long eyelashes, Fingernail dysplasia, Hearing impair... |
ORPHA:1507 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Small nail, Hearing impairment |
OMIM:308050 |
Rat-Bite Fever |
|
Oligoarthritis, Weight loss, Arthritis, Septic arthritis, Pancreatitis |
ORPHA:31205 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia |
ORPHA:90291 |
Stickler Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Cachexi... |
ORPHA:828 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Patent ductus arteriosus, Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemi... |
ORPHA:79076 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia, Weight loss |
ORPHA:411602 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic hyperhidrosis, Hypercalcemia, Weight loss |
ORPHA:29072 |
Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Osteolysis, Weight loss, Reduced bone minera... |
ORPHA:652 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Lipoma, Joint hyperflexibility, Broad thumb, Cachexia |
ORPHA:109 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Clubbing, Epistaxis, Pulmonary arteriovenous malformation |
OMIM:175050 |
Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Crackles, Cough, Increased DLCO, Tachypnea, Weight loss, Restr... |
OMIM:233450 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Abnormal cornea morphology, Nail dystrophy, Anonychia, Abnormality of the nail |
ORPHA:79404 |
African Trypanosomiasis |
|
Hepatomegaly, Akinesia, Splenomegaly, Jaundice, Hepatosplenomegaly, Weight loss, Choreoathetosis,... |
ORPHA:3385 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Alopecia |
ORPHA:227990 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Dyspnea, Hemothorax, Club... |
OMIM:187300 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Alopecia |
ORPHA:227982 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Arthritis, Elevated circulating C-reactive protein concentratio... |
OMIM:301074 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Posteriorly rotated ears, Loss of eyelashes, Abnormal tragus morphology, Low-set ears, ... |
ORPHA:2636 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Osteoporosis, Hyperhidrosis, Weight loss, Hypokalemia |
ORPHA:91347 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dex... |
ORPHA:99889 |
Malt Lymphoma |
|
Hyperhidrosis, Recurrent respiratory infections, Weight loss |
ORPHA:52417 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Bilateral sensorineural hearing impairment, Aplasia/Hypoplasia of the eyebrow, Protrudi... |
ORPHA:3464 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Hyp... |
ORPHA:90794 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Dyspnea, Clubbing, Cirrho... |
OMIM:600376 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Homozygous Familial Hypercholesterolemia |
|
Dyspnea, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic s... |
ORPHA:391665 |
Focal Dermal Hypoplasia |
|
Ridged nail, Mixed hearing impairment, Brittle hair, Supernumerary nipple, Ectopia lentis, Optic ... |
OMIM:305600 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Cachexia, Genu varum |
ORPHA:1969 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia |
ORPHA:220295 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Sparse hair, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Recurrent pneumon... |
ORPHA:647 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Macrotia, Posteriorly rotated ears |
ORPHA:96176 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Weight loss |
ORPHA:79078 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Orthopnea, Cachexia, Splenomegaly, Dyspnea, Pulmonary venous hypertension, Hypoalbu... |
ORPHA:75565 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Cataract, Sparse eyelashes, Posteriorly rotated ears, Supernumerary ... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... |
ORPHA:286 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |