Gene Summary

Name:
fibroblast growth factor 20
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal seminal vesicle morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 3.11×10-05
increased circulating total protein level Fgf20em1(IMPC)Ccpcz HOM Early adult 7.56×10-05
increased circulating HDL cholesterol level Fgf20em1(IMPC)Ccpcz HOM   Early adult 6.91×10-05
increased circulating serum albumin level Fgf20em1(IMPC)Ccpcz HOM   Early adult 8.14×10-05
abnormal startle reflex Fgf20em1(IMPC)Ccpcz HOM Early adult 6.26×10-16
small kidney Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
decreased startle reflex Fgf20em1(IMPC)Ccpcz HOM   Early adult 1.67×10-05
corneal opacity Fgf20em1(IMPC)Ccpcz HOM   Early adult 7.50×10-05
abnormal vertebrae morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 1.72×10-06
abnormal stomach morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
vertebral fusion Fgf20em1(IMPC)Ccpcz HOM Early adult 7.49×10-07
increased circulating cholesterol level Fgf20em1(IMPC)Ccpcz HOM   Early adult 7.58×10-06
abnormal tooth morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 4.43×10-05
decreased prepulse inhibition Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.63×10-13
abnormal vertebral arch morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 3.41×10-05
decreased kidney weight Fgf20em1(IMPC)Ccpcz HOM Early adult 4.64×10-10
enlarged spleen Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
increased blood urea nitrogen level Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.43×10-05
abnormal uterus morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thoracic cage shape Fgf20em1(IMPC)Ccpcz HOM   Early adult 8.08×10-06
enlarged heart Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
fusion of vertebral arches Fgf20em1(IMPC)Ccpcz HOM   Early adult 5.69×10-06
abnormal spleen morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged stomach Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal nail morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.89×10-05
abnormal thymus morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal liver morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal bone structure Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal autopod morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.89×10-05
enlarged lymph nodes Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Human diseases caused by Fgf20 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.

The table below shows human diseases associated to Fgf20 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Agenesis, Bilateral
Cleft palate, Tracheoesophageal fistula, Sirenomelia, Abnormal morphology of female internal geni... ORPHA:1848
Renal Hypodysplasia/Aplasia 2
OMIM:615721

The table below shows human diseases predicted to be associated to Fgf20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Multiple Myeloma
Bone pain, Nephrotic syndrome, Splenomegaly, Osteopenia, Hyperproteinemia, Nephropathy, Pathologi... ORPHA:29073
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypertrichosis, Hepatomegaly, Cleft palate, Hepatic failure, Short neck, Ventricular... OMIM:235255
Temple Syndrome
High palate, Joint hypermobility, Cleft palate, Flexion contracture, Small hand, Micrognathia, Sh... OMIM:616222
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypertrichosis, Hepatomegaly, Hepatic failure, Short neck, Ventricular septal defect... ORPHA:1655
Kbg Syndrome
Cleft palate, Cutaneous syndactyly, Short neck, Macrodontia, Finger clinodactyly, Single transver... ORPHA:2332
Alpha-Mannosidosis
Hepatomegaly, Short neck, Cataract, Bowing of the long bones, Mandibular prognathia, Delayed skel... ORPHA:61
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemivertebrae, Cutaneous finger sy... OMIM:113000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Corneal opacity, Clinodactyly of the 5th finger... ORPHA:2370
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Alopecia, Abnormality of t... ORPHA:2315
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Winchester Syndrome
Broad metacarpals, Kyphosis, Gingival overgrowth, Hirsutism, Corneal opacity, Generalized osteopo... OMIM:277950
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Gout, Increased circulating r... ORPHA:90041
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Megalocornea, Short neck, Delayed eruption of teeth, ... ORPHA:915
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Large iliac wing, Cleft palate, Reduced bone mineral density, A... ORPHA:577
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Dextrocardia, Choreoathetosis, Supernu... OMIM:221950
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma, Clinodactyly of the 5th toe ORPHA:99977
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... OMIM:235510
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... OMIM:615895
Verheij Syndrome
Abnormal cardiac septum morphology, Hemivertebrae, Vertebral fusion, Short neck, Long philtrum, S... OMIM:615583
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Abnormality of hair texture, Cleft palate, Abnormality of the... ORPHA:96169
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Hypoproteinemia, Flexion contracture, Micrognathia, Single transv... OMIM:608093
Keratoconus Posticus Circumscriptus
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... OMIM:244600
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Precocious puberty, Joint hypermobility, Cleft palate, Small hand, Mic... ORPHA:96184
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Hemivertebrae, Short neck, Micromelia, Fing... ORPHA:99776
Congenital Generalized Lipodystrophy
Hypertrichosis, Low anterior hairline, Hepatomegaly, Precocious puberty in females, Macroglossia,... ORPHA:528
Hurler-Scheie Syndrome
Spinal canal stenosis, Generalized hirsutism, Corneal opacity, Hepatomegaly, Limitation of joint ... ORPHA:93476
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short ... OMIM:268310
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... OMIM:618845
Refractory Celiac Disease
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proport... ORPHA:398063
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Gorlin Syndrome
Arachnodactyly, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral fusion, Scoliosis, Palmar... ORPHA:377
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... OMIM:232700
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Esophageal varix, H... ORPHA:75234
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral seg... ORPHA:2345
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Precocious puberty, Joint hypermobility, Small hand, Micrognathia, Short philtrum, S... ORPHA:254531
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Craniosynostosis, Ventricular septal defect, Rocker bottom foot, Double outlet righ... OMIM:301056
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormal form of the vertebral bodies, Abnormality... ORPHA:1802
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Horseshoe kidne... ORPHA:3320
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Scoliosis, Hypertriglyceridemia, Elevated hepatic transaminas... OMIM:619013
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hypodontia, Cleft palate,... ORPHA:2916
Sialidosis Type 2
Kyphosis, Corneal opacity, Hepatomegaly, Flexion contracture, Splenomegaly, Nephropathy, Osteopor... ORPHA:87876
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Short neck, Platyspondy... ORPHA:93315
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Coarse hair, Short neck, Heparan sulfate excretion in urine, Platyspondyly, Anterio... OMIM:253220
Carpenter Syndrome 1
High palate, External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes,... OMIM:201000
Galloway-Mowat Syndrome 7
High palate, Cleft palate, Ventricular septal defect, Single transverse palmar crease, Proteinuri... OMIM:618348
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Gingival overgrowth, Nephrotic syndrome, Fair hair, Hepato... OMIM:269920
Alg6-Cdg
Macroglossia, Shortening of all distal phalanges of the fingers, Scoliosis, Brachydactyly, Decrea... ORPHA:79320
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... OMIM:263540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... OMIM:606612
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cryptorchidism, Talipes equinovarus, Short neck, Long phi... OMIM:608104
Lymphangiectasia, Intestinal
Malabsorption, Lymphopenia, Prominent floating ribs, Intestinal lymphangiectasia, Neonatal hypopr... OMIM:152800
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Hypoplasia of the thymus, Eosinophilia, Se... OMIM:603554
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Cleft palate, Ureteral obstruction, Cataract, Bowing of the l... ORPHA:90652
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Arachnodactyly, Micro... OMIM:616730
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Cleft palate, Short neck, Platyspondyly, Abnormal... ORPHA:485
Growth Hormone Insensitivity Syndrome
Hypoplasia of penis, Everted lower lip vermilion, Delayed eruption of teeth, Fine hair, Hyperchol... ORPHA:181393
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Coarse hair, Short neck, Enlarged kidney, Long eyelashes, Proteinuria, Bone marrow ... OMIM:617303
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatocellular adenoma, Cholestasis, Esophageal varix, Polycystic ovaries, Portal f... ORPHA:370
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Situs inversus to... OMIM:613686
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Short neck, Platyspondyly, Carious teeth, Genu valgum, ... ORPHA:582
Laron Syndrome
Short toe, Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Brachydactyly, Dela... ORPHA:633
46,Xy Sex Reversal 4
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen,... OMIM:154230
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Scoliosis, Brachyda... OMIM:182290
Gm1 Gangliosidosis
Platyspondyly, Ventricular septal defect, Tremor, Abnormal epiphysis morphology, Mandibular progn... ORPHA:354
Smith-Magenis Syndrome
Cleft palate, Abnormality of the ureter, Short philtrum, Microcornea, Tented upper lip vermilion,... ORPHA:819
Galactosialidosis
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column ORPHA:351
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... ORPHA:543
Alg1-Cdg
Decreased liver function, Kyphosis, Nephrotic syndrome, Limitation of joint mobility, Abnormality... ORPHA:79327
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Cockayne Syndrome Type 1
Widely spaced primary teeth, Anodontia, Increased blood urea nitrogen, Hepatomegaly, Hypoplasia o... ORPHA:90321
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hy... OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Mucopolysaccharidosis Type 1
Microdontia, Abnormality of the tonsils, Abnormal epiphysis morphology, Mucopolysacchariduria, Ab... ORPHA:579
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bone pain, Hepatomegaly, Splenomegaly, Intention tremor, Erlenmeyer flask deformity of the femurs... OMIM:610539
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... OMIM:274000
Koolen-De Vries Syndrome
High palate, Abnormality of hair texture, Slender finger, Cleft palate, Prominent fingertip pads,... OMIM:610443
Wolf-Hirschhorn Syndrome
Cleft palate, Craniofacial asymmetry, Malrotation of small bowel, Short philtrum, Biliary tract a... OMIM:194190
Robinow Syndrome
Tricuspid atresia, Triangular mouth, External genital hypoplasia, Broad alveolar ridges, Hemivert... ORPHA:97360
Basal Cell Nevus Syndrome
Cleft palate, Hemivertebrae, Down-sloping shoulders, Cataract, Mandibular prognathia, Vertebral w... OMIM:109400
Hurler Syndrome
Hepatomegaly, Calvarial hyperostosis, Short neck, Heparan sulfate excretion in urine, Microdontia... OMIM:607014
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Roifman Syndrome
Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepato... OMIM:616651
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Wilson Disease
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... OMIM:277900
Lowry-Maclean Syndrome
Cleft palate, Atrioventricular canal defect, Craniosynostosis, Osteopenia, Megalocornea, Pyloric ... ORPHA:2409
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Oligospermia, H... OMIM:615703
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... ORPHA:353298
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Elevated circulating creatine kina... ORPHA:264580
Abcd Syndrome
Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Total intestinal a... OMIM:600501
Sanjad-Sakati Syndrome
Hypoparathyroidism, Spinal canal stenosis, Corneal opacity, Hypocalcemia, Hypoplasia of penis, Co... ORPHA:2323
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Clinodactyly of the 5th finger, Lymphopenia, Abnormal hair quantity, Hypoproteinem... ORPHA:1116
Caudal Regression Syndrome
Anal atresia, Joint stiffness, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac ... ORPHA:3027
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin metacarpal cortices, Thin bony cor... OMIM:259600
Simpson-Golabi-Behmel Syndrome
Wide mouth, Hepatomegaly, Hepatoblastoma, Cleft palate, Accelerated skeletal maturation, Short ne... ORPHA:373
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... OMIM:607155
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Narrow palm, Clinodactyly, Thoracic ... ORPHA:1445
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... OMIM:618363
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ... OMIM:253000
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Hypertrichosis, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Long eyel... OMIM:213980
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Cleft palate... OMIM:312150
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Ulnar deviation of the hand, Metatarsal osteolysis, Wrist pain, Micrognathia, Os... OMIM:166300
Megalocornea-Intellectual Disability Syndrome
High palate, Kyphosis, Everted lower lip vermilion, Abnormal anterior chamber morphology, Microgn... ORPHA:2479
Diaphanospondylodysostosis
Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Absen... ORPHA:66637
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Clinodactyly of the 5th toe, Ly... ORPHA:99976
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Intestinal obstruction, Thr... OMIM:226300
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyl... ORPHA:2741
Leptospirosis
Hepatomegaly, Hyperproteinemia, Conjunctival hyperemia, Thrombocytopenia, Hepatitis, Acute kidney... ORPHA:509
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Gastroesophageal reflux, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndac... ORPHA:313892
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Hepatomegaly, Alopecia, Increased proporti... OMIM:615559
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Hepatomegaly, Microcornea ORPHA:2432
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Hypoammonemia, Abnormality of the dentition, Platyspondyly, Hematuria, Delayed eruptio... ORPHA:534
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... OMIM:613490
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... OMIM:603553
Galloway-Mowat Syndrome 6
High palate, Wide mouth, Nephrotic syndrome, Clinodactyly of the 5th finger, Decreased response t... OMIM:618347
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Abnormal hair quantity, Cryptorchidism, Open bite, Reduc... ORPHA:2617
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... OMIM:265000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Platyspondyly, Short neck, Micromelia, Metaphyseal irregularity, Narrow greater sci... OMIM:602557
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Alopecia, Splenom... OMIM:235200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Hypospadias, Abnormalit... ORPHA:2522
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Anemia, Decrease... ORPHA:90362
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Short clavicles, Small hand, Short neck, Tapered finger, Renovascular hype... ORPHA:401923
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario... OMIM:253010
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration... OMIM:612852
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Cleft palate, Broad alveolar ridges, Micromelia, Pyloric stenosis, Ventricular sept... OMIM:270400
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Hypoplastic heart, Thin ribs, Cleft palate, Flexion contrac... OMIM:253290
Galactokinase Deficiency
Increased level of galactitol in urine, Hepatomegaly, Nuclear cataract, Hypergonadotropic hypogon... ORPHA:79237
Frontometaphyseal Dysplasia
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Ureteral obstruction, Limitatio... ORPHA:1826
Kbg Syndrome
Cutaneous syndactyly, Short neck, Macrodontia, Single transverse palmar crease, Tented upper lip ... OMIM:148050
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Cleft palate, Single transverse palmar crease, Clitoral hypertrophy, Cataract, Brus... OMIM:214110
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Avascular necrosis, Hypertrichosis, Elevated circulating C-reactive protein concentr... OMIM:619750
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Short neck, Platyspondyly, Abnormal proportion of naive CD4 T cells, Microdontia, A... ORPHA:1830
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Proteinuria, Pericarditis, Stage 5 chronic kidney disease, Scoliosis, Elevated hepa... OMIM:619487
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Gastroesophageal reflux, Hypoproteinemia, Diffuse ... OMIM:256300
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Corneal opacity, Increased intervertebral space, Short ribs, Metaphy... OMIM:618961
Mucolipidosis Ii Alpha/Beta
Wide mouth, Hepatomegaly, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Megalocornea... OMIM:252500
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Delayed eruption of teeth, Carious teeth, Genu valgum, Broad ribs, Ovoid vertebral ... OMIM:253200
Sialidosis Type 1
Kyphosis, Corneal opacity, Aminoaciduria, Splenomegaly, Urinary excretion of sialylated oligosacc... ORPHA:812
Leishmaniasis
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Leukopenia, Abnormal macrophage morp... ORPHA:507
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Hurler Syndrome
Hepatomegaly, Short neck, Abnormality of the tonsils, Abnormal epiphysis morphology, Mucopolysacc... ORPHA:93473
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Hypoplasia of the ulna, Horseshoe kidney, Cataract, Sandal gap, Ve... ORPHA:959
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Cardiomegaly, Craniosynostosis ORPHA:88643
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Lymphadenopathy OMIM:608971
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Alopecia, Splenomegaly, Abnormality of the small intes... ORPHA:100025
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Cardiomegaly, Fle... OMIM:616897
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Scapular winging, Short neck, Cataract, Block vertebrae, Delayed skeletal maturatio... OMIM:272460
Mucopolysaccharidosis Type 6
Kyphosis, Sinusitis, Epiphyseal dysplasia, Joint stiffness, Macroglossia, Splenomegaly, Short nec... ORPHA:583
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Tremor, Proteinuria, Proxi... OMIM:212065
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly... ORPHA:158061
Axial Mesodermal Dysplasia Spectrum
Tracheoesophageal fistula, Abnormality of the ureter, Short neck, Anorectal anomaly, Vertebral se... ORPHA:1834
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Myhre Syndrome
Sparse hair, Cleft palate, Short philtrum, Short neck, Platyspondyly, Cone-shaped epiphysis, Vent... OMIM:139210
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... ORPHA:536471
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Mosaic Trisomy 20
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis,... ORPHA:1724
Alg12-Cdg
Muscular ventricular septal defect, Short philtrum, B lymphocytopenia, Sandal gap, Short long bon... ORPHA:79324
Trichohepatoenteric Syndrome 1
Wide mouth, Hepatomegaly, Sparse hair, Hepatic failure, Cholestasis, Abnormality of the pancreas,... OMIM:222470
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Lateral Meningocele Syndrome
High palate, Kyphosis, Bicuspid aortic valve, Sclerosis of skull base, Malar flattening, Microgna... OMIM:130720
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated... ORPHA:79240
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Periosteal thickening of long tubular bones, Proximal phalangeal periosteal ... OMIM:161700
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Heparan sulf... OMIM:252920
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Flexion contracture, Hepatic failure, Cirrhosis, Hepatosp... ORPHA:367
Cantu Syndrome
Short neck, Platyspondyly, Hypoplastic ischiopubic rami, Broad hallux, Long eyelashes, Ovoid vert... OMIM:239850
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Cleft palate, Single transverse palmar crease, Clitoral hypertrophy, Cataract, Brus... OMIM:614866
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Lethal Congenital Contracture Syndrome 10
High palate, Torticollis, Narrow palate, Thoracic scoliosis, Talipes equinovarus, Adducted thumb,... OMIM:617022
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Hepatomegaly, Alopecia, Osteopenia, Down-sloping shoulders, Acroosteolysis of distal... OMIM:248370
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Band keratopathy, Hepatic failure, Hemivertebrae, Reduced numb... OMIM:118450
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Cleft palate, Fused thoracic vertebrae, Flexion contracture, Short neck, Sco... OMIM:618469
Zellweger Syndrome
High palate, Malabsorption, Abnormality of the tongue, Hepatomegaly, Corneal opacity, Hepatic fai... ORPHA:912
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia OMIM:301033
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi... OMIM:308240
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasi... ORPHA:172
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Narrow greater sciatic notch, Splenomegaly, Platyspondyly, Anterior rib cupping, Scoli... OMIM:602271
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Elevated hepati... ORPHA:263501
Hurler-Scheie Syndrome
Kyphosis, Hirsutism, Corneal opacity, Hepatomegaly, Hand pain, Joint stiffness, Splenomegaly, Mic... OMIM:607015
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adenoma, Enlarged kidney, Carious te... ORPHA:79259
Fanconi Anemia, Complementation Group I
Atrial septal defect, Decreased response to growth hormone stimulation test, Absent thumb, Hypopl... OMIM:609053
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Villous atrophy, Renal cyst, Protein-losin... OMIM:602579
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Brachydactyly, Finger symphalangism, Proximal symphalangi... OMIM:610017
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Atrial septal defect, Micropenis, Wormian bones, Hypogonadotropic hypogonadism, ... OMIM:617159
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypertrichosis, Exocrine pancreatic insufficiency, Broad phalanx, Atrioventricular canal defect, ... ORPHA:508498
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Developmen... OMIM:618815
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... OMIM:178110
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Cataract, Abnormal circulating arginine concentrat... ORPHA:247598
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... ORPHA:488650
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Sclerosing cholangitis, Elevated circulating... OMIM:619662
Apert Syndrome
Cleft palate, Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm s... OMIM:101200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Hypertrichosis, Short neck, Heparan sulfate excretion in urine, Enlarg... ORPHA:505248
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Abnormal intestine morphology, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Mucopolysaccharidosis Type 7
Joint stiffness, Corneal opacity, Splenomegaly, Abnormal hip bone morphology, Anterior beaking of... ORPHA:584
Mulibrey Nanism
Myocardial fibrosis, Dental malocclusion, Hepatomegaly, Hypodontia, Thickened cortex of long bone... OMIM:253250
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Abnormality of the dentition, Coarse hair, Hepara... ORPHA:581
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... ORPHA:470
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Lymphangioma, Splenomegaly, Calvarial hyperostosis, Limbal... OMIM:176920
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Cleft palate, Unilateral renal agenesis, Abnormal vertebral segm... OMIM:118100
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Colitis, Hepatomegaly, Ch... ORPHA:540
Duane Retraction Syndrome
Cleft palate, Hypoplasia of the radius, Short neck, Microcornea, Anorectal anomaly, Hypoplastic i... ORPHA:233
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Elevated circulating creatinine concentration... ORPHA:85450
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Anal atresia, Abnormal sacrum morphology, Scoliosis, Brachydactyly, Fused cervical vertebrae, Sho... ORPHA:1436
Juvenile Sialidosis Type 2
Gingival overgrowth, Corneal opacity, Hepatomegaly, Hepatosplenomegaly, Abnormal form of the vert... ORPHA:93399
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Osteopenia, Short neck, Hammertoe, Cervical C2/C3 vertebral fusion, Knee dislocation... OMIM:618000
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Horses... OMIM:607323
Oculoskeletodental Syndrome
Low anterior hairline, Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Oligodontia, Scoli... OMIM:618440
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Anemia, Ele... ORPHA:231111
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Fucosidosis
Glycopeptiduria, Tortuosity of conjunctival vessels, Lumbar hyperlordosis, Thick eyebrow, Hepatom... OMIM:230000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Anemia, Stage 5... OMIM:603278
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Alopecia, Ectopic ossification in tendon tissue, Short 1st metaca... OMIM:135100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Rib fusion, Urethral atresia, Absent external genitalia, Thin ribs, Short ribs, Sup... OMIM:271520
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Scoliosis, Tremor, Hypoalbuminemia, Hyperchol... OMIM:208920
Chops Syndrome
Anomalous pulmonary venous return, Coarse hair, Ventricular septal defect, Long eyelashes, Horses... OMIM:616368
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Congenital Rubella Syndrome
Corneal opacity, Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Apl... ORPHA:290
Megalocornea-Mental Retardation Syndrome
High palate, Low anterior hairline, Genu recurvatum, Arachnodactyly, Micrognathia, Osteopenia, Me... OMIM:249310
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital... OMIM:306955
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Tented upp... ORPHA:2059
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Alopecia, Abnormality of the dentition, Ventricular septal de... ORPHA:2092
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Cholestasis-Lymphedema Syndrome
Bone pain, Hyperlipidemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cirrhosis, A... ORPHA:1414
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Ovoid vertebral bodie... ORPHA:85167
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... ORPHA:251004
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Micropenis, Hypospadias, Hypogonadotropic hypogonadism, Hemivert... OMIM:206900
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Short neck, Advanced eruption of teeth, ... ORPHA:818
Larsen Syndrome
Cleft palate, Short nail, Ventricular septal defect, Elbow dislocation, Cleft upper lip, Talipes ... OMIM:150250
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Elevated circu... ORPHA:26793
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Low back pain, M... OMIM:122600
Tbck-Related Intellectual Disability Syndrome
Short neck, 11 pairs of ribs, Broad finger, Ventricular septal defect, Tented upper lip vermilion... ORPHA:488632
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Tapered... OMIM:608836
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Elevated ... OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Cantú Syndrome
Wide mouth, Accelerated skeletal maturation, Short neck, Platyspondyly, Long eyelashes, Broad rib... ORPHA:1517
Mosaic Trisomy 8
High palate, Vertebral segmentation defect, Corneal opacity, Clinodactyly of the 5th finger, Clef... ORPHA:96061
Williams Syndrome
Cholelithiasis, Wide mouth, Abnormality of the ankles, Radioulnar synostosis, Tremor, Genu valgum... ORPHA:904
Harel-Yoon Syndrome
Corneal opacity, Micrognathia, Scoliosis, Developmental cataract, Mandibular prognathia, Hypertro... OMIM:617183
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... OMIM:602782
Dengue Fever
Hepatomegaly, Hypoproteinemia, Leukopenia, Gingival bleeding, Gastrointestinal hemorrhage, Thromb... ORPHA:99828
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Osteopor... ORPHA:100024
Lathosterolosis
High palate, Anisopoikilocytosis, Schistocytosis, Horseshoe kidney, Cataract, Talipes equinovarus... OMIM:607330
Wilson Disease
Bone pain, Joint swelling, Hepatomegaly, Acute hepatitis, Back pain, Splenomegaly, Acute hepatic ... ORPHA:905
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Accelerated skeletal maturation, Cleft palate, Craniosynostosis, Osteopenia, Metacarpophalangeal ... OMIM:245600
Erythrokeratodermia Variabilis
Generalized hirsutism, Corneal opacity, Alopecia, Brachydactyly, Tapered finger, Patchy palmoplan... ORPHA:317
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Cervical C2/C3 vertebral fusion, Flexion contracture, Everted lower lip vermilion, M... OMIM:616549
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Beaking of vertebral bodies, Hypoplastic verteb... OMIM:618641
Schimmelpenning-Feuerstein-Mims Syndrome
Recurrent fractures, Hypophosphatemic rickets, Precocious puberty, Corneal opacity, Kyphoscoliosi... OMIM:163200
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Hepatomegaly, High, narrow palate, Splenomegaly, Small hand, Micrognat... OMIM:608799
Abetalipoproteinemia
Corneal ulceration, Hepatomegaly, Steatorrhea, Osteopenia, Fat malabsorption, Reticulocytosis, Ca... ORPHA:14
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Genu valgum, Proteinuria, Scoliosis, Osteomalacia, Wrist swelling, Joint hypermobi... OMIM:309000
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Wide mouth, Dental malocclusion, Narrow palate, Clinodactyly of the 5th finger, Vert... OMIM:227330
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... OMIM:151200
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Arachnodactyly, Micrognathia, P... ORPHA:1716
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Chronic hemolytic ane... OMIM:210250
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Osteopenia, Thin metacarpal cortices, Abnormality of the thymus, Delayed skeletal ma... ORPHA:2463
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Aortic valve stenosis, Flat capital femoral epiphysis, Flared iliac wi... OMIM:252605
Osteogenesis Imperfecta
Abnormality of femur morphology, Abnormality of the dentition, Femoral bowing, Osteopenia, Biconc... ORPHA:666
Zimmermann-Laband Syndrome
High palate, Wide mouth, Hepatomegaly, Cleft palate, Abnormal external genitalia, Short neck, Fac... ORPHA:3473
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... OMIM:108720
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... OMIM:602390
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Hirsutism, Gingival overgrowth, Hypoplastic vertebral ... ORPHA:79255
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Mandibuloacral Dysplasia
High palate, Dental crowding, Short clavicles, Sparse hair, Alopecia, Micrognathia, Delayed crani... ORPHA:2457
H Syndrome
Hypertrichosis, Alopecia, Enlarged kidney, Osteolysis, Hypogonadism, Delayed skeletal maturation,... ORPHA:168569
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Scleroderma
Keratitis, Alopecia, Myocarditis, Osteolytic defects of the phalanges of the hand, Pericarditis, ... ORPHA:801
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Enamel hypoplasia, Proteinuria... OMIM:618349
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Short neck, Scoliosis, Ventricula... OMIM:214300
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Corneal opacity, External genital hypoplasia, Alopeci... ORPHA:1867
Ethanolaminosis
Cardiomegaly OMIM:227150
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Gastroesophageal reflux, Increased blood urea nitrogen, Abnormal renal physio... OMIM:223900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Gastroesophageal reflux, Flexion contracture, Anemia, Abnormal circulating selenium... ORPHA:89842
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormal circulating lipid concentration, Splenomegaly... ORPHA:381
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Gaucher Disease
Elevated circulating C-reactive protein concentration, Hepatomegaly, Osteopenia, Hematuria, Abnor... ORPHA:355
Carpenter Syndrome
Preaxial foot polydactyly, Abnormal cornea morphology, Kyphoscoliosis, Talipes equinovarus, Exter... ORPHA:65759
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Ren... ORPHA:281090
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Megalocornea, Delayed skeletal ... ORPHA:280
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Clinodactyly of the 5th finger, Fair hair, Atrial s... OMIM:249630
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Hirsutism, Hypertrichosis, Hepatomegaly, Kyphoscolio... OMIM:252930
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scolio... ORPHA:2319
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El... ORPHA:79301
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... OMIM:171480
Fish-Eye Disease
Corneal opacity, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenop... ORPHA:79292
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly, Thin vermilion border, Micrognathia, Hypogonadis... OMIM:608540
Morgagni-Stewart-Morel Syndrome
Hirsutism, Action tremor, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuric... ORPHA:77296
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of t... ORPHA:2930
Morquio Syndrome C
Corneal opacity, Platyspondyly OMIM:252300
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Sparse body hair, Aplasia/Hy... ORPHA:1133
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... ORPHA:2538
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Chronic kidney disease, Atrial ... ORPHA:1667
8Q21.11 Microdeletion Syndrome
High palate, Narrow mouth, Corneal opacity, Hypoplasia of penis, Finger syndactyly, Abnormality o... ORPHA:284160
Bartsocas-Papas Syndrome
Narrow mouth, Corneal opacity, Cleft palate, Absent thumb, Aplasia/Hypoplasia of the eyebrow, Mic... ORPHA:1234
Orthostatic Hypotension 1
High palate, Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concent... OMIM:223360
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Micrognathia, Scoliosis, 3-Methylglutaconic aciduria, Cataract, Mandibular progn... ORPHA:496790
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Bladder exstrophy, Ventricular septal defect, Esophag... OMIM:301068
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Alopecia, Decreased prealbumin level, Malabsorption, Coliti... ORPHA:37042
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Mucous Membrane Pemphigoid
Gingivitis, Oral mucosal blisters, Corneal opacity ORPHA:46486
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lower limb pai... OMIM:611762
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, ... ORPHA:1692
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Lymphadeno... ORPHA:42642
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx ... OMIM:309620
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
48,Xxyy Syndrome
Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Carious teeth, Radioulna... ORPHA:10
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Hajdu-Cheney Syndrome
Hepatomegaly, Cleft palate, Abnormality of the dentition, Coarse hair, Short neck, Biconcave vert... ORPHA:955
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transamina... OMIM:214900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Atrioventricular canal defect, Osteop... OMIM:619534
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Aicardi Syndrome
Cleft upper lip, Rib fusion, Malabsorption, Bifid ribs, Hiatus hernia, Hepatoblastoma, Cleft pala... ORPHA:50
Multiple Sulfatase Deficiency
Joint stiffness, Corneal opacity, Thick eyebrow, Hepatomegaly, Splenomegaly, Coarse hair, Broad h... ORPHA:585
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Corneal opacity, Metaphyseal widening, Osteopenia, Isosexu... ORPHA:2788
Al Amyloidosis
Hepatomegaly, Proteinuria, Gastrointestinal hemorrhage, Albuminuria, Howell-Jolly bodies, Abnorma... ORPHA:85443
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Microscopic hematuria, ... OMIM:274150
Distal Monosomy 6P
Abnormality of the dentition, Short philtrum, Abnormal epiphysis morphology, Vertebral segmentati... ORPHA:96125
Frontometaphyseal Dysplasia 2
High palate, Cleft palate, Short philtrum, Congenital hip dislocation, Finger clinodactyly, Pylor... OMIM:617137
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... ORPHA:171
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Abnormality of the p... ORPHA:887
Dyskeratosis Congenita
Hepatomegaly, Sparse hair, Alopecia, Hepatic failure, Tracheoesophageal fistula, Abnormality of t... ORPHA:1775
Systemic Sclerosis
Alopecia, Myocarditis, Osteolytic defects of the phalanges of the hand, Proteinuria, Pericarditis... ORPHA:90291
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Pancreatitis, Atrial septal defect, Micropenis, Postaxial polydactyly, Astigm... OMIM:619471
Farber Disease
Hepatic failure, Lymphadenopathy, Joint swelling, Flexion contracture, Abnormality of the hand, A... ORPHA:333
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Hypoplasia of the ... OMIM:122470
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... ORPHA:64753
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Hypoplasia of penis, Splenomegaly, Thin vermilion border, Hypospadias, Abnormality ... ORPHA:1046
Alpha-Mannosidosis, Infantile Form
Recurrent gastroenteritis, Craniosynostosis, Osteopenia, Short neck, Platyspondyly, Genu valgum, ... ORPHA:309282
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Hepatomegaly, Aminoaciduria, Splenomegaly, Abnormal metaphysis morphology ORPHA:417
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Clitoral hypoplasia, Pyloric stenosis, Single transverse palmar crease, Bifid dis... OMIM:618419
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... OMIM:156810
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Coxa vara, Hypocalcemia, Hepatomegaly, Increased bone mi... OMIM:259700
Intellectual Developmental Disorder, Autosomal Dominant 52
High palate, Cervical C2/C3 vertebral fusion, Low anterior hairline, Lumbar hyperlordosis, Crypto... OMIM:617796
Cinca Syndrome
Abnormal joint morphology, Elevated circulating C-reactive protein concentration, Hepatomegaly, L... ORPHA:1451
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Proteinuria, Ac... ORPHA:54370
Congenital Disorder Of Glycosylation, Type Iie
Hypertrichosis, Hepatomegaly, Short neck, Jaundice, Abnormal heart morphology, Splenomegaly, Retr... OMIM:608779
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Reticulocytos... OMIM:612126
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroglossia, Delayed proximal femoral epiphyseal os... ORPHA:90674
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Familial Papillary Or Follicular Thyroid Carcinoma
Bone pain, Recurrent fractures, Abnormality of the lymph nodes, Chronic noninfectious lymphadenop... ORPHA:319487
Trisomy 13
Cleft palate, Abnormality of the dentition, Abnormality of the ureter, Ventricular septal defect,... ORPHA:3378
Marden-Walker Syndrome
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Talipes equinovar... OMIM:248700
Juvenile Polyposis Of Infancy
Melena, Freckled genitalia, Hematochezia, Rectal prolapse, Gastrointestinal hemorrhage, Abnormal ... ORPHA:79076
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Hypoal... OMIM:614131
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Tracheoesophageal fistula, Hypospadias, Hemivertebrae, 11 pairs of ribs, Ven... ORPHA:77298
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Joint hypermobility... OMIM:300972
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Fatigable weakness of neck muscles, Hepatomegaly, Hyperammonemia, Eleva... ORPHA:42
Galloway-Mowat Syndrome 1
High palate, Wide mouth, Nephrotic syndrome, Hiatus hernia, Slender finger, Diffuse mesangial scl... OMIM:251300
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Hemophagocytosis, Splenomega... OMIM:300635
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Retrognat... OMIM:614576
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... ORPHA:882
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Spondylolisthesis, Short neck, Genu valgum, Mandibular pr... OMIM:607016
Trypsinogen Deficiency
Anal atresia, Hypoproteinemia OMIM:614044
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Opacification o... OMIM:230650
Schimke Immunoosseous Dysplasia
Osteopenia, Coarse hair, Short neck, Platyspondyly, Microdontia, Hypoplasia of the capital femora... OMIM:242900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephron... OMIM:615630
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Hepatomegaly, Leukocytosis, S... OMIM:615673
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Gaucher Disease Type 1