Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Rgn MGI:108024

Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:

regucalcin

Synonyms:

SMP30

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rgn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rgn (0 diseases)
Human diseases predicted to be associated with Rgn (913 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rgn by phenotypic similarity.

Disease	Matching phenotypes	Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rgn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rgn.

No publications found that use IMPC mice or data for Rgn.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rgn^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rgn^{em1(IMPC)Marc}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us