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 thoracic cage shape Fgf20em1(IMPC)Ccpcz HOM   Early adult 8.36×10-06
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 bone structure Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
increased blood urea nitrogen level Fgf20em1(IMPC)Ccpcz HOM   Early adult 1.60×10-05
abnormal vertebral arch morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 3.31×10-05
enlarged thymus Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal nail morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 1.92×10-05
abnormal liver morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
vertebral fusion Fgf20em1(IMPC)Ccpcz HOM Early adult 7.24×10-07
decreased startle reflex Fgf20em1(IMPC)Ccpcz HOM Early adult 4.19×10-05
increased circulating HDL cholesterol level Fgf20em1(IMPC)Ccpcz HOM   Early adult 4.67×10-05
enlarged stomach Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal autopod morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 1.92×10-05
abnormal skin morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating cholesterol level Fgf20em1(IMPC)Ccpcz HOM   Early adult 7.37×10-06
abnormal kidney morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal startle reflex Fgf20em1(IMPC)Ccpcz HOM Early adult 1.43×10-16
abnormal vertebrae morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 1.69×10-06
abnormal tooth morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 4.34×10-05
abnormal digit morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.04×10-05
abnormal thymus morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
corneal opacity Fgf20em1(IMPC)Ccpcz HOM   Early adult 1.56×10-05
abnormal spleen morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
decreased kidney weight Fgf20em1(IMPC)Ccpcz HOM Early adult 1.36×10-07
abnormal stomach morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating total protein level Fgf20em1(IMPC)Ccpcz HOM Early adult 7.54×10-05
abnormal seminal vesicle morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
small kidney Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
decreased prepulse inhibition Fgf20em1(IMPC)Ccpcz HOM Early adult 4.28×10-10
fusion of vertebral arches Fgf20em1(IMPC)Ccpcz HOM   Early adult 5.60×10-06

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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 Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral 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
Abnormal morphology of female internal genitalia, Sirenomelia, Abnormal intestine morphology, Tra... 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
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Functional abnormality of the ... ORPHA:29073
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Pulmonar... ORPHA:1655
Kbg Syndrome
Cryptorchidism, Short neck, Widely-spaced maxillary central incisors, Delayed skeletal maturation... ORPHA:2332
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Pulmonary lymphangiectasia, ... OMIM:235255
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Open bite, Bowing of the long bones, Short neck,... ORPHA:61
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Scoliosis, Abnormal form of the vertebral bodies, Narrow ... ORPHA:2370
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Hirsutism... OMIM:277950
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Megalocornea, Cryptorchidism, Short neck, Everted lower lip vermil... ORPHA:915
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl... ORPHA:90041
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal heart valve morphology... ORPHA:577
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Scoliosis, Short iliac bones, Flattened proximal radial epiphyses, Kyp... OMIM:271530
Johanson-Blizzard Syndrome
Abnormality of the dentition, Alopecia, Abnormal vagina morphology, Anteriorly placed anus, Delay... ORPHA:2315
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Koolen-De Vries Syndrome
Cryptorchidism, Arachnodactyly, Bicuspid aortic valve, Everted lower lip vermilion, Hypospadias, ... ORPHA:96169
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Dilated cardi... OMIM:615895
Keratoconus Posticus Circumscriptus
Keratoconus, Cleft upper lip, Vesicoureteral reflux, Limited elbow extension and supination, Shor... OMIM:244600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Vertebral segmentation defect, Ureteral atresi... OMIM:618845
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Cardiomyopathy, Abnormal heart valve... ORPHA:93476
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Temple Syndrome
Precocious puberty, Bifid uvula, Small hand, Scoliosis, Clinodactyly, Decreased testicular size, ... OMIM:616222
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Small hand, Clinodactyly, Micrognathia, Narrow mouth, Cryptorchi... ORPHA:96184
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Crypto... ORPHA:99776
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process,... OMIM:253010
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Talip... OMIM:301056
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Elevated circulating hepatic transaminase concentration, Micrognathia, Cryptorchidism, ... OMIM:608093
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricular septal defect, Cer... ORPHA:2345
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Small hand, Clinodactyly, Micrognathia, Joint hypermobility, Short philtrum, ... ORPHA:254531
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Sialidosis Type 2
Nephropathy, Ascites, Splenomegaly, Tremor, Corneal opacity, Hepatomegaly, Osteoporosis, Flexion ... ORPHA:87876
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Long philtrum, Retrognathia, Joint hypermobilit... OMIM:615583
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... OMIM:305620
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Infantile Sialic Acid Storage Disease
Osteopenia, Nephrotic syndrome, Fair hair, Ascites, Gingival overgrowth, Splenomegaly, Cardiomega... OMIM:269920
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla, Limited elbow... OMIM:300280
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental e... ORPHA:2916
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Koolen-De Vries Syndrome
Open mouth, Cryptorchidism, Narrow palm, Ventricular septal defect, Bicuspid aortic valve, Everte... OMIM:610443
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Clinodactyly, Micrognathia, Ventricular septal defect, Arachno... OMIM:618348
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Urinary glycosamin... OMIM:253220
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Smith-Magenis Syndrome
Toe syndactyly, Abnormality of the ureter, Micrognathia, Open mouth, Delayed eruption of primary ... ORPHA:819
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Elevated circulating hepatic tran... ORPHA:398063
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Joint dislocation, Delayed skel... ORPHA:582
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column, Corneal opacity ORPHA:351
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Robinow Syndrome
Small scrotum, Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Mark... ORPHA:97360
Gm1 Gangliosidosis
Hepatosplenomegaly, Abnormal scrotum morphology, Narrow mouth, Ventricular septal defect, General... ORPHA:354
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Micrognathia, Cryptorchidism, Ventricular septal defect, Low posterior hairline... OMIM:194190
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Iris coloboma, Cataract, Ver... OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle weakness, Elbow contracture, Elevated circulating creatine kinase concentr... OMIM:606612
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Multiple renal cysts, Na... ORPHA:66637
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Neoplasm o... ORPHA:543
Hurler Syndrome
Hypoplasia of the odontoid process, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Endo... OMIM:607014
Cockayne Syndrome Type 1
Cataract, Male hypogonadism, Abnormality of the dentition, Foot joint contracture, Elevated circu... ORPHA:90321
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Clinodactyly of the 5th toe, Lymphadenopathy, Esophag... ORPHA:99976
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Ventricular septal defect, Tal... OMIM:150250
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
46,Xy Sex Reversal 4
Long philtrum, Gonadal dysgenesis, Elevated circulating creatinine concentration, Distal symphala... OMIM:154230
Smith-Magenis Syndrome
Abnormal forearm morphology, Abnormality of the dentition, Scoliosis, Everted upper lip vermilion... OMIM:182290
Roifman Syndrome
Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Short toe, Prominent eyela... OMIM:616651
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... OMIM:253000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Laron Syndrome
Delayed eruption of teeth, Short toe, Tooth agenesis, Delayed skeletal maturation, Micrognathia, ... ORPHA:633
Developmental And Speech Delay Due To Sox5 Deficiency
Gastroesophageal reflux, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the ma... ORPHA:313892
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Overlapping toe, Micrognathia, Low posterior hairline, Talipes equinovarus,... OMIM:213980
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Enuresis, Elevated circulating hepatic transaminase concentrat... ORPHA:247585
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Carious teeth, Cryptorchidism, Arachnodactyly, Anteri... ORPHA:377
Roifman Syndrome
Epiphyseal dysplasia, Biconvex vertebral bodies, Downturned corners of mouth, Long philtrum, Shor... ORPHA:353298
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Hirsutism, Hypercholesterolemi... OMIM:612526
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine... OMIM:226300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Lowry-Maclean Syndrome
Megalocornea, Micrognathia, Delayed eruption of primary teeth, Midgut malrotation, Hypospadias, H... ORPHA:2409
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Abnormality of the uret... ORPHA:3027
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Hypoplastic heart, Micrognathia, Inc... OMIM:312150
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... ORPHA:373
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Azoospermia, Narrow ... ORPHA:1445
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Cleft lip... OMIM:616730
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia, Pro... OMIM:152800
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh... OMIM:600501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... ORPHA:264580
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar... OMIM:166300
Morbid Obesity And Spermatogenic Failure
Azoospermia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy... OMIM:615703
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Shoulder girdle muscle weakness, Exercise-induced myoglobinuria, Elevated... OMIM:607155
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Mucopolysaccharidosis Type 1
Generalized hirsutism, Everted lower lip vermilion, Joint dislocation, Hypertrophic cardiomyopath... ORPHA:579
Sanjad-Sakati Syndrome
Abnormality of the dentition, Small hand, Patchy osteosclerosis, Hyperphosphatemia, Long philtrum... ORPHA:2323
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Median cleft palate, Corneal opacity ORPHA:2432
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Kyphosis, Hypoplasia of the iris, Megalocornea, Micrognathia, Open mouth, Astigmatism... ORPHA:2479
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Cryptorchidism, Patellar aplasia, Dysplastic p... OMIM:265000
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... OMIM:271630
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Premature graying of hair, Open bite, Congenital pyloric atresia, Micrognathia, Cr... ORPHA:2617
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Splenomegaly, Flared iliac wing, Hepatomegaly, Anterior be... OMIM:230650
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal dental morphology, Abnormal hip bone morphology, Micro... ORPHA:2522
Galactokinase Deficiency
Cataract, Nuclear cataract, Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactit... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cry... ORPHA:534
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Situs inversus totalis, Ver... OMIM:613686
Kbg Syndrome
Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Short neck, Widely-spa... OMIM:148050
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibi... OMIM:253290
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ... ORPHA:1830
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... ORPHA:1826
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Corneal opacity ORPHA:1980
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Carious teeth, Hypoplasia of the odontoid process, Hypoplastic iliac wing, ... OMIM:253200
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Ventricular septal defect, Short... OMIM:178110
Leptospirosis
Acute kidney injury, Hepatitis, Conjunctival hyperemia, Elevated serum transaminases during infec... ORPHA:509
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Small hand, Cervical kyphosis, Dilated cardiomyopathy, Short clavicles, Bi... ORPHA:401923
Sialidosis Type 1
Aminoaciduria, Cataract, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Thic... ORPHA:812
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Delayed sk... ORPHA:2501
Hurler Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Endocardial fibroelastosis, Generali... ORPHA:93473
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Broad ribs, Splenomegaly, Joint swelling, Hepatomegaly, F... OMIM:612852
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Aortic valve stenosis, Sparse scalp hair, Megalocornea, Subluxatio... ORPHA:536471
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... ORPHA:90362
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Trisomy 4P
Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Preaxial hand polydacty... ORPHA:1738
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased int... OMIM:618961
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Joint contracture of the hand, Micrognathia, Cryptorchidism, Talipes equino... OMIM:214110
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Short hal... ORPHA:959
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Lateral Meningocele Syndrome
Coarse hair, Dental crowding, Long philtrum, Sclerosis of skull base, Micrognathia, Cryptorchidis... OMIM:130720
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the ureter, Micrognathia, Abnormal gastrointestinal tra... ORPHA:1834
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Clinodactyly, Spinal canal stenosis, Horseshoe k... ORPHA:1724
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect... OMIM:616897
Mucopolysaccharidosis, Type Iiib
Coarse hair, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Hirsutism, Cardio... OMIM:252920
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Cubitus valgus, Short neck, Deep philtrum,... OMIM:619750
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ... ORPHA:263501
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... OMIM:618469
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... ORPHA:370010
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Ehlers-Danlos Syndrome, Classic-Like, 2
Micrognathia, Cryptorchidism, Mitral valve prolapse, Low posterior hairline, Short neck, High pal... OMIM:618000
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hurler-Scheie Syndrome
Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the distal interphala... OMIM:607015
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Thick lower lip vermilion, Abnormal heart valve morphology, Broad ribs, Joi... ORPHA:583
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Hypocalcemia, Splenomegaly, Hepatomegaly,... ORPHA:100025
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening... OMIM:161700
Chédiak-Higashi Syndrome
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... ORPHA:167
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cantu Syndrome
Thick upper lip vermilion, Broad first metatarsal, Bicuspid aortic valve, Hypoplastic ischiopubic... OMIM:239850
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hyperbilirubin... OMIM:619991
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Developmental cataract, Corn... OMIM:618815
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greate... OMIM:602271
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Renal insufficiency, Congenital nephrot... OMIM:256300
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricular septal defect, Bi... ORPHA:508498
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... OMIM:118450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu... ORPHA:79240
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, D... OMIM:609053
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g... ORPHA:2494
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit... ORPHA:64743
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, Cryptorchidism, As... OMIM:617159
Prader-Willi Syndrome
Small scrotum, Small hand, Carious teeth, Clinodactyly, Decreased HDL cholesterol concentration, ... OMIM:176270
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c... OMIM:620454
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossifica... OMIM:618363
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Ascites, Abnormal hip bone morphology, E... ORPHA:584
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... ORPHA:470
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Pyle Disease
Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of... OMIM:265900
Chops Syndrome
Cryptorchidism, Ventricular septal defect, Curly hair, High, narrow palate, Cataract, Gastroesoph... OMIM:616368
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, A... OMIM:118100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Xanthelasma, Hepatic steatosis... ORPHA:79259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Delayed cranial suture closure, Micrognathia, Calcinosis, Hepatomegaly, High p... OMIM:248370
Gaucher Disease Type 1
Gingival bleeding, Decreased HDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Pa... ORPHA:77259
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Ascites, Astigmatism, Single transverse palma... OMIM:253250
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... OMIM:607323
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short... ORPHA:1436
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Spinal canal stenosis, Open mouth, Splenomegaly, Ky... OMIM:176920
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Juvenile Sialidosis Type 2
Cataract, Visceromegaly, Abnormal form of the vertebral bodies, Abnormal heart morphology, Hepato... ORPHA:93399
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary ribs, Hemivertebrae, ... OMIM:122600
Zellweger Syndrome
Cataract, Clitoral hypertrophy, Multicystic kidney dysplasia, Hepatic failure, Micrognathia, Epip... ORPHA:912
Gm1 Gangliosidosis Type 1
Platyspondyly, Long philtrum, Beaking of vertebral bodies T12-L3, Cardiomyopathy, Hepatosplenomeg... ORPHA:79255
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Clinodactyly, Oligosacchariduria, Hype... OMIM:616354
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the va... OMIM:271520
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Lethal Congenital Contracture Syndrome 10
Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Micrognathia, Femoral bowing, Thoraci... OMIM:617022
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ectopia pupillae, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Increased ... OMIM:608940
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Fryns Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Short neck, Anal atresia, High palate... ORPHA:2059
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Narrow mouth, Genu valgum, Mitral valve prolapse, Low posterio... OMIM:245600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Hepatomega... OMIM:602557
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long eyelashes, Low posterior hairline, Optic disc pallor, A... OMIM:617523
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Hepatomegaly, ... ORPHA:290
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Corneal opacity, Developmental cataract, Hip dysplasia... OMIM:617183
Microphthalmia, Syndromic 3
Cataract, Butterfly vertebrae, Cryptorchidism, Ventricular septal defect, Missing ribs, Hypogonad... OMIM:206900
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Bilateral single transverse palmar creases, Abnormal hair quantity, Clinodactyly of ... ORPHA:1116
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Microcornea, Broad thumb, Gastroesophageal reflux, Short thumb, Interphalangeal ... OMIM:151200
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Acute hepatic failure... ORPHA:2092
Oculoskeletodental Syndrome
Protein-losing enteropathy, Delayed skeletal maturation, Elbow flexion contracture, Hypercalcemia... OMIM:618440
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, Arthritis, Stiff... ORPHA:465508
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Abnormal circulating creat... ORPHA:488650
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Postaxial foot polydactyly, Multicystic kidney dysplasia, Finger syndactyly... ORPHA:818
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Sco... OMIM:252600
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Short metacarpal, Ovoid vertebral bo... ORPHA:85167
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Genu valgum, Urinary glycosaminoglycan excretion, Abnormal mitral valv... ORPHA:581
Fibrodysplasia Ossificans Progressiva
Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely space... OMIM:135100
Mosaic Trisomy 8
Limitation of joint mobility, Arthrogryposis multiplex congenita, Abnormal rib morphology, Campto... ORPHA:96061
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Cardiomyopathy, Micrognathia, Acetabular dysplasia, Thin upper lip vermilion, Cerv... OMIM:616549
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, Cryptorchidism, Ventricular septal defect, Short neck, Broad toe, High, narrow pala... ORPHA:488632
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of th... ORPHA:1414
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Neuhauser Syndrome
Genu recurvatum, Bifid uvula, Osteopenia, Long philtrum, Hypoplasia of the iris, Megalocornea, Mi... OMIM:249310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating hepatic... ORPHA:26793
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:100024
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Cantú Syndrome
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Ovoid... ORPHA:1517
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes equinova... OMIM:108720
Duane Retraction Syndrome
Micrognathia, Low posterior hairline, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Short... ORPHA:233
Gaucher Disease
Gingival bleeding, Aortic valve calcification, Decreased HDL cholesterol concentration, Pancytope... ORPHA:355
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hypogonadism, Micrognathia, Splenomegaly, Hepatomegaly, Joint contracture, Thin v... OMIM:608540
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hir... ORPHA:317
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Low posterior hairli... OMIM:214300
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea nitrogen, Ele... ORPHA:231111
Distal Duplication 18Q
Progressive intervertebral space narrowing, Carious teeth, Deviation of finger, Camptodactyly of ... ORPHA:1716
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Narrow mouth, Arachnodactyly, Low posterior hairline, Abnormal bone ossification, High... ORPHA:2463
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Pollakisuria, Vertebral fusion, Widow's peak, Cryptorchidism, Down-sloping s... OMIM:227330
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal... ORPHA:2538
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Proteinuria, Episodic hemolytic anemia, Increased blood urea n... ORPHA:251004
Zimmermann-Laband Syndrome
Facial hypertrichosis, Micrognathia, Short neck, Hepatomegaly, High palate, Gingival fibromatosis... ORPHA:3473
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf... ORPHA:281090
Williams Syndrome
Synostosis of joints, Carious teeth, Megalocornea, Open bite, Micrognathia, Genu valgum, Cryptorc... ORPHA:904
Primary Biliary Cholangitis
Xanthelasma, Cirrhosis, Hepatomegaly, Jaundice, Celiac disease, Esophageal varix, Ascites, Abnorm... ORPHA:186
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Scoliosis, Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, 3-Methylglutaconi... ORPHA:496790
Carpenter Syndrome
Abnormal cornea morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Polysplenia, Preaxial... ORPHA:65759
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Short finger, Abnormal heart morphology, Decreased testicular size,... ORPHA:1867
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, T... OMIM:252930
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Kyphosis, Long philtrum, Delayed skeletal maturation, Ascites, Hypocholesterolem... OMIM:608776
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Pathol... ORPHA:905
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Absent thumb, Alope... ORPHA:1234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Frontometaphyseal Dysplasia 2
Broad thumb, Cryptorchidism, Hip contracture, Talipes equinovarus, Bicuspid aortic valve, Disloca... OMIM:617137
Ethanolaminosis
Cardiomegaly OMIM:227150
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G... ORPHA:666
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Megalocornea, Micrognathia, Cryptorchidism, Arachnodactyly, Talipe... ORPHA:280
Wilson Disease
Hypouricemia, Kayser-Fleischer ring, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Lim... OMIM:277900
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Glycosuria, Renal tubu... OMIM:614817
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Osteopenia, Alopecia, Horseshoe kidney, Abnormal dental morphology, Hypophosp... OMIM:163200
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney... ORPHA:3109
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Alopecia, Dental crowding, Contractures of the large... ORPHA:2457
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reticulo... OMIM:210250
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Sparse body hair, Abnormal den... ORPHA:1133
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Orthostatic Hypotension 1
Hypomagnesemia, Joint hypermobility, Brachydactyly, Increased blood urea nitrogen, Nocturia, Elev... OMIM:223360
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Dengue Fever
Gingival bleeding, Gastrointestinal hemorrhage, Ascites, Leukopenia, Thrombocytopenia, Hepatomega... ORPHA:99828
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Coombs-posi... OMIM:619375
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Griscelli Syndrome
Iris hypopigmentation, Bone marrow hypocellularity, Silver-gray hair, Hepatitis, Abnormal circula... ORPHA:381
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Abnormality of the dentition, Downturned corners of mouth, Finge... ORPHA:284160
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Small hand, Elevated circulating hepatic transami... OMIM:608799
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Radioulnar synostosis, Broad jaw, Ga... ORPHA:10
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, ... OMIM:209950
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Anteriorly pla... ORPHA:2319
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Varicocele, Acute kidney injury, Rheumatoid arthritis, Elevated circulating cr... ORPHA:49041
Infantile Liver Failure Syndrome 3
Platyspondyly, Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration... OMIM:618641
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Hepatosplenome... ORPHA:763
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Cryptorchidism, Proxim... OMIM:309000
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Hepatomegaly... ORPHA:289157
Multiple Sulfatase Deficiency
Cataract, Broad thumb, Coarse hair, Joint stiffness, Thick eyebrow, Splenomegaly, Smooth philtrum... ORPHA:585
Morgagni-Stewart-Morel Syndrome
Action tremor, Hyperuricemia, Hirsutism, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hype... ORPHA:77296
Mucous Membrane Pemphigoid
Gingivitis, Oral mucosal blisters, Corneal opacity ORPHA:46486
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Elevated circulating creatinine concentration, Recurrent corneal erosion... OMIM:223900
Christian Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Short middle phalanx o... OMIM:309620
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Corneal opacity, Decreased HDL cholesterol concentration, Hepatome... ORPHA:79292
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili... OMIM:301068
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Distal Deletion 6P
Ectopia pupillae, Micrognathia, Talipes equinovarus, Posterior embryotoxon, Atrial septal defect,... ORPHA:96125
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, Hepatic... ORPHA:1692
Fucosidosis
Beaking of vertebral bodies, Absent/hypoplastic coccyx, Hepatomegaly, Anterior beaking of lumbar ... OMIM:230000
Intellectual Developmental Disorder, Autosomal Dominant 52
Downturned corners of mouth, Bilateral cryptorchidism, Lumbar hyperlordosis, Open mouth, Astigmat... OMIM:617796
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossi... ORPHA:955
Neuraminidase Deficiency
Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Epiphyseal s... OMIM:256550
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... ORPHA:2788
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand... ORPHA:210110
Cornelia De Lange Syndrome 1
Micrognathia, Cryptorchidism, Ventricular septal defect, Low posterior hairline, Hypoplastic labi... OMIM:122470
Progressive Familial Intrahepatic Cholestasis
Delayed skeletal maturation, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Red... ORPHA:172
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology, Recurrent fractures ORPHA:417
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Ascites, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Anemia,... ORPHA:1046
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Chronic sinusitis, Abnormal intestine morphology, B lymphocy... ORPHA:397596
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Ventricular ... OMIM:614866
Dyskeratosis Congenita
Carious teeth, Periodontitis, White hair, Premature graying of hair, Displacement of the urethral... ORPHA:1775
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Short neck, Bil... ORPHA:309282
Farber Disease
Hepatosplenomegaly, Abnormality of the knee, Abnormality of the elbow, Short toe, Ascites, Lympha... ORPHA:333
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia, Atrial septal defect OMIM:620211
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Lower limb pain, Leukocytosis, Splenomegaly, Lymphadenopathy, Arth... OMIM:611762
Vacterl/Vater Association
Multicystic kidney dysplasia, Finger syndactyly, Cryptorchidism, Anal atresia, Ectopic kidney, Hy... ORPHA:887
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Delayed skeletal maturation, Wi... OMIM:613320
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Enamel hypomineralization... OMIM:307800
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutaneous finger syn... OMIM:618419
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Short neck, ... OMIM:229850
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Accelerat... OMIM:190350
Aicardi Syndrome
Precocious puberty, Small hand, Gastroesophageal reflux, Block vertebrae, Sparse lateral eyebrow,... ORPHA:50
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Pa... OMIM:620662
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pr... OMIM:613845
Cronkhite-Canada Syndrome
Cataract, Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Furrowed to... ORPHA:2930
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... ORPHA:1452
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Cryptorchidism, Ventricular septal ... ORPHA:77298
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure ORPHA:46532
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... OMIM:241600
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo... OMIM:601812
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Marden-Walker Syndrome
Joint contracture of the hand, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipe... OMIM:248700
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... OMIM:619471
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Alopecia, Delayed skeletal maturation, Decr... ORPHA:168569
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Trisomy 13
Abnormality of the ureter, Cryptorchidism, Bilateral single transverse palmar creases, Displaceme... ORPHA:3378
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Colon cancer, Goiter, Chronic noninfectious lymphadenopathy, Nodu... ORPHA:319487
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Shashi-Pena Syndrome
Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Retrognathia, Hypertrichosis, Long ey... OMIM:617190
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia OMIM:221400
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Micrognathia, Splenomegaly, Tibial bowing, Lower limb unde... ORPHA:3035
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... ORPHA:882
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Elevated circulating c... ORPHA:100083
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hy... OMIM:613179
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal lumbar spine morphology, A... ORPHA:2357
De Barsy Syndrome
Sparse hair, Cataract, Congenital hip dislocation, Osteopenia, Delayed eruption of teeth, Delayed... ORPHA:2962
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cardiomyopathy, Cervical v... OMIM:606842
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Genu va... OMIM:615630
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Hepatomegaly, Lym... ORPHA:858
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Nail dystrophy, Elevated circulating apoli... OMIM:205400
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F... ORPHA:87
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr... OMIM:620632
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Palmoplantar keratoderma, Decreased testicular size, External genital hypop... OMIM:610644
Gómez-López-Hernández Syndrome
Thin vermilion border, Alopecia of scalp, Corneal opacity ORPHA:1532
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Mucopolysaccharidosis, Type Iiia
Coarse hair, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Thickened ribs, H... OMIM:252900
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk... OMIM:615673
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Short neck, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic sy... OMIM:617303
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circ... OMIM:300635
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Abnormal pelv... ORPHA:464329
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Restrictive cardiomyopathy, Clinodactyly, Flexion contracture, Accessory oral frenulum,... ORPHA:88630
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Ventric... OMIM:616589
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, Contracture of the distal... ORPHA:83617
Proteus-Like Syndrome
Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyr... ORPHA:2969
Cinca Syndrome
Joint dislocation, Abnormal joint morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Delayed c... ORPHA:1451
Scheie Syndrome
Limitation of joint mobility, Joint stiffness, Splenomegaly, Mucopolysacchariduria, Everted lower... ORPHA:93474
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Cholestasis, Hyperbilirubinemia, Dark urin... OMIM:619534
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Finger swelling, Narrow mouth, Glomerulonephritis, A... ORPHA:90291
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Cryptorchidism, Ventricular septal defect, Arachnodactyly,... ORPHA:464306
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Finger syndactyly, Long philtrum, Abnormal morphology of female internal genitalia, Ca... ORPHA:2311
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Flared metaphysis, Sandwich appearance of vertebral bodies, Pathologic fracture, O... OMIM:259700
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia,... ORPHA:79477
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Red urine, Absent eyebrow, Increased fecal coproporphyrin 1, Hepat... OMIM:263700
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni... OMIM:242900
Mogs-Cdg
Alopecia, Retrognathia, Fair hair, External genital hypoplasia, Overlapping fingers, Hepatospleno... ORPHA:79330
Short Syndrome
Abnormality of the dentition, Alopecia, Abnormal mandible morphology, Hypoplasia of the iris, Meg... ORPHA:3163
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ... ORPHA:217085
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Micrognathia, Cryptorchidism, Protruding tongue, Ventricular septal defect,... OMIM:214100
Elsahy-Waters Syndrome
Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, H... OMIM:211380
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, La... ORPHA:363705
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Elevated ci... OMIM:614576
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Re... ORPHA:97290
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed skeletal maturation, Delayed ... ORPHA:90674
Chime Syndrome
Acute leukemia, Ventricular septal defect, Short foot, Sparse hair, Hip dislocation, Aplasia/Hypo... ORPHA:3474
Glut1 Deficiency Syndrome 2
Splenomegaly, Reduced haptoglobin level, Reticulocytosis, Tremor, Dystonia, Hemolytic anemia, Cho... OMIM:612126
Multiple Sulfatase Deficiency
Broad thumb, Broad hallux, Splenomegaly, Hypoplastic vertebral bodies, Mucopolysacchariduria, Cor... OMIM:272200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Retrognathia, Hypertrichosis, Muscular ventricular septal defect, Butt... OMIM:619227
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome