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Gene: Fgf20 MGI:1891346

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Gene Summary

Name:
fibroblast growth factor 20
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus 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 8.36×10-06
decreased prepulse inhibition Fgf20em1(IMPC)Ccpcz HOM Early adult 7.46×10-10
enlarged heart Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
fusion of vertebral arches Fgf20em1(IMPC)Ccpcz HOM   Early adult 5.60×10-06
abnormal lymph node morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged stomach Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal bone structure Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal liver morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal nail morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.13×10-05
abnormal autopod morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.13×10-05
abnormal digit morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.27×10-05
abnormal seminal vesicle morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating serum albumin level Fgf20em1(IMPC)Ccpcz HOM   Early adult 8.14×10-05
abnormal skin morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
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
small kidney Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal startle reflex Fgf20em1(IMPC)Ccpcz HOM Early adult 2.07×10-16
abnormal vertebrae morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 1.69×10-06
decreased startle reflex Fgf20em1(IMPC)Ccpcz HOM Early adult 4.19×10-05
corneal opacity Fgf20em1(IMPC)Ccpcz HOM   Early adult 7.50×10-05
abnormal stomach morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
vertebral fusion Fgf20em1(IMPC)Ccpcz HOM Early adult 7.24×10-07
increased circulating cholesterol level Fgf20em1(IMPC)Ccpcz HOM   Early adult 7.58×10-06
abnormal tooth morphology Fgf20em1(IMPC)Ccpcz HOM Early adult 4.34×10-05
abnormal vertebral arch morphology Fgf20em1(IMPC)Ccpcz HOM   Early adult 3.31×10-05
enlarged spleen Fgf20em1(IMPC)Ccpcz HOM Early adult 0.00
decreased kidney weight Fgf20em1(IMPC)Ccpcz HOM Early adult 4.64×10-10
increased blood urea nitrogen level Fgf20em1(IMPC)Ccpcz HOM   Early adult 2.43×10-05

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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

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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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 sacrum morphology, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Siren... 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 speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain... ORPHA:29073
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Micrognathia, High palate, Abnormality of the uterus, Hypocalcemia, Abnormal fallopia... ORPHA:1655
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Short neck, Micrognathia, High palate, Hypocalcemia, Protein-losing enteropathy, Micropenis, Hepa... OMIM:235255
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Kbg Syndrome
Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf... ORPHA:2332
Alpha-Mannosidosis
Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Avascular necr... ORPHA:61
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral densit... ORPHA:2370
Johanson-Blizzard Syndrome
Hypoplasia of penis, Anteriorly placed anus, Oligodontia, Microdontia, Abnormality of the female ... ORPHA:2315
Winchester Syndrome
Arthropathy, Corneal opacity, Kyphosis, Hirsutism, Gingival overgrowth, Osteolysis involving tars... OMIM:277950
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Joint... ORPHA:577
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... ORPHA:915
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoa... OMIM:235510
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, ... ORPHA:96169
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Short neck, Cleft upper lip, Vesicoureteral ... OMIM:244600
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atres... OMIM:618845
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... ORPHA:93476
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Precocious puberty, Small hand, Short foot, High palate, Short philtrum, Scoliosis,... ORPHA:254531
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti... ORPHA:398063
Temple Syndrome
Hypertriglyceridemia, Micrognathia, Precocious puberty, Cryptorchidism, Flexion contracture, Smal... OMIM:616222
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Micrognathia, Precocious puberty, Cryptorchidism, Pyloric stenosis, Small hand, Cleft palate, Sho... ORPHA:96184
Congenital Generalized Lipodystrophy
Mandibular prognathia, Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Prec... ORPHA:528
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Cataract, Single transverse palmar crease, Micrognathia, Tremor, C... OMIM:608093
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Short neck, Asplenia, Micrognathia, Hemivertebrae, Finger clinod... ORPHA:99776
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Nephrocalci... OMIM:268310
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Leukopenia, Vesicoureteral reflux, Micropenis... OMIM:301056
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Ventricular septal defect, Truncus arte... OMIM:615583
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft... ORPHA:2345
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Tremor, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis,... ORPHA:87876
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... OMIM:300280
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Hypogonadotropic hypogonadism,... ORPHA:377
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... ORPHA:93315
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Single transverse palmar crease, Micrognathia, High palate, Arachnod... OMIM:618348
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro... OMIM:201000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatospl... OMIM:619013
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, V... OMIM:269920
Alg6-Cdg
Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fing... ORPHA:79320
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Clubbing, Iron deficiency anemia, Clubbing o... OMIM:226300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... ORPHA:2916
Lymphangiectasia, Intestinal
Malabsorption, Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia, Prominent floa... OMIM:152800
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Hypertriglyceridemia, Abnormality of the dent... OMIM:182290
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... ORPHA:819
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Coarse hair, Na... OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... OMIM:606612
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Minimal chan... OMIM:616730
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce... OMIM:617872
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Kyphosis, Limitation of joint mob... ORPHA:79327
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine conce... OMIM:608104
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vesicoureteral ref... OMIM:610443
Gm1 Gangliosidosis
Mandibular prognathia, Tremor, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Ge... ORPHA:354
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology, Corneal opacity ORPHA:351
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Reduced bone mineral density, Abnormal dental enamel morphology, H... ORPHA:582
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Short toe, Abnormality of the elbow... ORPHA:633
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Synophrys, Low anterior hairline, Flexion contracture, Leukopen... OMIM:617303
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini... OMIM:154230
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... OMIM:274000
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Hypocholester... OMIM:610539
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Iris coloboma, Vertebral fusi... OMIM:109400
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Orofacial c... OMIM:194190
Diaphanospondylodysostosis
Short neck, Missing ribs, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or minim... ORPHA:66637
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Foot joi... ORPHA:90321
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Microdontia, H... OMIM:607014
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... ORPHA:97360
Mucopolysaccharidosis Type 1
Joint dislocation, Sinusitis, Low anterior hairline, Abnormal form of the vertebral bodies, Widel... ORPHA:579
Roifman Syndrome
Hepatomegaly, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Single t... OMIM:616651
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... OMIM:259600
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... OMIM:615703
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... OMIM:213980
Adenocarcinoma Of The Esophagus
Barrett esophagus, Esophageal carcinoma, Lymphadenopathy, Gastroesophageal reflux, Clinodactyly o... ORPHA:99976
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom... OMIM:277900
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... ORPHA:313892
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Malabsorption, Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinem... ORPHA:1116
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinu... OMIM:607155
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Azoospe... ORPHA:1445
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... OMIM:150250
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Abcd Syndrome
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... OMIM:600501
Roifman Syndrome
Noncompaction cardiomyopathy, Brachydactyly, Biconvex vertebral bodies, Hypogonadotropic hypogona... ORPHA:353298
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, narrow... ORPHA:2409
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Cornea... OMIM:166300
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Abnorma... ORPHA:534
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Sho... ORPHA:373
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, In... OMIM:603553
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Iridodonesis, Tapered finger, Micrognathia, Kyphosis, Hypoplasia of the iris, Joint h... ORPHA:2479
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation... ORPHA:2741
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Corneal opacity, Abnormal dental... ORPHA:2323
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity, Median cleft palate ORPHA:2432
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Missing ribs, Ectopic kidney, Cryptorchidism, Joint st... ORPHA:3027
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func... ORPHA:90362
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, ... OMIM:618347
Galactokinase Deficiency
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased level of ga... ORPHA:79237
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Leptospirosis
Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperpr... ORPHA:509
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormal dental morphology, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Malar... ORPHA:2522
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Bicuspid aortic valve, Cervical kyphosis, Highly arched eyebrow, Tapered f... ORPHA:401923
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Elevated circulating C-reactive protein co... OMIM:612852
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordo... ORPHA:1830
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Alopecia, Elevated hepatic transaminase, Hypogonadotropic hypogonadism... OMIM:235200
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,... OMIM:272460
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia ORPHA:1980
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Lymphad... ORPHA:100025
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, Micrognat... OMIM:270400
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Elevated circulating C-reactive protein concentration, Microcytic anemia, ... OMIM:619750
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... OMIM:256300
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Tremor, Splenomegaly... ORPHA:812
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... OMIM:178110
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Thick hair, Hepatosplenomegaly, Ci... ORPHA:263501
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Craniosynostosis, Cardiomegaly ORPHA:88643
Hurler Syndrome
Short neck, Endocardial fibroelastosis, Abnormal vertebral morphology, Generalized hirsutism, Hep... ORPHA:93473
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Metaphyse... OMIM:618961
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Dextro... OMIM:613686
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Cardiomegaly, Short neck, Multiple prenatal fractures, Flexion contractu... OMIM:616897
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... ORPHA:2501
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:616050
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Micrognathia, Aminoaciduria, Hypoplasia of the thymus, Intrahepa... OMIM:214110
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Congeni... ORPHA:2617
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o... OMIM:253200
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Metaph... OMIM:252500
Kbg Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Synophrys, L... OMIM:148050
Acro-Renal-Ocular Syndrome
Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Iris colo... ORPHA:959
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia,... OMIM:619487
Axial Mesodermal Dysplasia Spectrum
Short neck, Micrognathia, Abnormality of the spleen, Anorectal anomaly, Renal cyst, Abnormal form... ORPHA:1834
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syn... OMIM:252920
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia OMIM:615863
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Villous atrophy, Tremor, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fi... OMIM:212065
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... OMIM:603552
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... OMIM:603554
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... ORPHA:370010
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... ORPHA:583
Alagille Syndrome 1
Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Vesicoureteral reflux, Atrial s... OMIM:118450
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... OMIM:248370
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Bifid uvula, Long ... OMIM:222470
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate ex... OMIM:607015
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Lateral Meningocele Syndrome
Smooth philtrum, Vertebral fusion, Neurogenic bladder, Bicuspid aortic valve, Ventricular septal ... OMIM:130720
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Esophag... ORPHA:367
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Aminoac... OMIM:619991
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Delayed skeletal maturation, Cholestasis, Re... ORPHA:172
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Gastroesophageal reflux, Short philtr... ORPHA:79324
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism... ORPHA:1724
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Bone pain, Osteolytic d... OMIM:161700
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Short neck, Metaphyseal widening, Thick upper lip vermilion,... OMIM:239850
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Weakness of the intrins... ORPHA:488650
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener... ORPHA:508498
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period... ORPHA:79259
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Ventricular septal defect, Cor... ORPHA:912
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... OMIM:609053
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... OMIM:602271
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... OMIM:618363
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Mulibrey Nanism
Hepatomegaly, Dental crowding, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, ... OMIM:253250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Scoliosis, Dystonia,... OMIM:208920
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Ectopic kidney, Short neck, Micrognathia,... ORPHA:233
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Limbal dermoid, Open mouth, Mandibular hyperostosis, Spinal canal s... OMIM:176920
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... OMIM:607323
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... OMIM:618000
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Protein-losing ... OMIM:602579
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hepatomegaly, Hypogonadotropic hypogonad... ORPHA:465508
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Kyphoscoliosis, Splenomegaly, Hypertric... OMIM:616354
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Conjunctivitis, ... ORPHA:505248
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Generalized hypertrichosis, Gingival ... ORPHA:93399
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Metatarsus adductus, S... ORPHA:584
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Develo... OMIM:618815
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Ventricu... OMIM:617159
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,... ORPHA:581
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:540
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Spatulate ribs, Short long bone, Gingival overgrowth, Hepatosplenom... ORPHA:79255
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Harel-Yoon Syndrome
Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Hip dysplasia, Scol... OMIM:617183
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Thrombocytopeni... ORPHA:290
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... ORPHA:85167
Neuhauser Syndrome
Osteopenia, Iridodonesis, Arachnodactyly, Genu recurvatum, Micrognathia, Low anterior hairline, G... OMIM:249310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... ORPHA:26793
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Absent external genitalia, Missing ribs, Short neck, Rib fusio... OMIM:271520
Chops Syndrome
High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux... OMIM:616368
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Stiff neck, Cardiom... OMIM:617022
Focal Dermal Hypoplasia
Acute hepatic failure, Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal ... ORPHA:2092
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Sclerocornea, Micrognathia, Abnorma... ORPHA:818
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abn... ORPHA:1414
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... ORPHA:210110
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Short neck, Accelerated skeletal maturation, Mic... OMIM:245600
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... OMIM:135100
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Macroscop... ORPHA:251004
Fryns Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, High palate, Gastroesophageal reflux, Vesic... ORPHA:2059
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Lathosterolosis
Bilobate gallbladder, Micrognathia, Ambiguous genitalia, male, High palate, Thick upper lip vermi... OMIM:607330
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati... ORPHA:488632
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Rhizomelia, Iliac crest serration, H... ORPHA:239
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... OMIM:602782
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,... OMIM:616549
Microphthalmia, Syndromic 3
Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospa... OMIM:206900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Cryptorchidism, Splenomegaly, Delayed skeletal maturation, Elbow fle... OMIM:618440
Williams Syndrome
Osteopenia, Abnormal form of the vertebral bodies, Nephrocalcinosis, Microdontia, Hypogonadotropi... ORPHA:904
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... OMIM:608836
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Gingival bleeding, Ascites, Hypoproteinemi... ORPHA:99828
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Cantú Syndrome
Cardiomegaly, Short neck, Accelerated skeletal maturation, Low anterior hairline, Broad ribs, Gen... ORPHA:1517
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Abnormality of the hand, Short neck, Flat capital femoral ep... OMIM:252605
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine a... OMIM:618805
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Decreased serum iron, Carious teeth, Narrow mouth, Esophageal ... ORPHA:89842
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... OMIM:241600
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Smooth philtrum, Elevated circulating creatine kinas... OMIM:608799
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Fus... OMIM:214300
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Cardiomyopathy, Thin vermilion bor... OMIM:608540
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno... OMIM:602390
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... OMIM:210250
Zimmermann-Laband Syndrome
Short neck, Micrognathia, Overtubulated long bones, High palate, Bifid uvula, Hepatomegaly, Abnor... ORPHA:3473
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... ORPHA:666
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Dental crowding, Increased circulating free fatty acid level, Mic... ORPHA:2457
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro... ORPHA:14
Wilson Disease
Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of the... ORPHA:905
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Neuropathic arthropathy, Elevated circulating creatinine concentration, Hypogeusia, Gastroesophag... OMIM:223900
Mosaic Trisomy 8
Corneal opacity, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar apla... ORPHA:96061
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, High palate, Lumbar hemivertebra... ORPHA:2463
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Ethanolaminosis
Cardiomegaly OMIM:227150
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline OMIM:617523
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia... ORPHA:77296
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine... OMIM:252930
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Median cleft lip, Absent th... ORPHA:1234
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Atrial septal def... ORPHA:2538
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Alopecia, Cataract, Tapered finger, Malabsorption, Splenomega... ORPHA:2930
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hyperphosphaturia, Alopecia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Ab... OMIM:163200
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
H Syndrome
Microcytic anemia, Corneal arcus, Micropenis, Alopecia, Cleft upper lip, Delayed skeletal maturat... ORPHA:168569
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... OMIM:309000
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath... OMIM:611762
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Tapered finger, Abnormal hair morphology, Patchy palmoplanta... ORPHA:317
Distal Duplication 18Q
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, Short neck, ... ORPHA:1716
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Widow'... OMIM:227330
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft palate, Low posterior hairl... OMIM:118100
Gaucher Disease
Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Tremor, Ost... ORPHA:355
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Fucosidosis
Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture... OMIM:230000
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... OMIM:618641
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Orthostatic Hypotension 1
Joint hypermobility, Reduced circulating prolactin concentration, Increased blood urea nitrogen, ... OMIM:223360
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi... OMIM:226990
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... ORPHA:65759
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Smooth philtrum, Abnormal dental ... ORPHA:1133
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Elevated circulating C-reactive p... ORPHA:49041
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, El... ORPHA:1667
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop... ORPHA:79292
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata... OMIM:617137
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downt... ORPHA:280
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Cryptorchidism, Hip dysplasia, 3-... ORPHA:496790
Mucous Membrane Pemphigoid
Corneal opacity, Gingivitis, Oral mucosal blisters ORPHA:46486
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, ... ORPHA:37042
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology, Cry... ORPHA:281090
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp... ORPHA:2319
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Congenital abnormal hair pattern, External genital hypoplasia, Corneal opacit... ORPHA:1867
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Chronic noninfectious lymphad... ORPHA:100083
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Arthritis, Abnormal oral cavity morph... ORPHA:42642
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... ORPHA:763
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Renal cyst, Orofacial cleft, Finger clinodac... ORPHA:1692
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... ORPHA:284160
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Precocious pub... ORPHA:50
Distal Deletion 6P
Micrognathia, Orofacial cleft, Hypoplasia of the iris, Downturned corners of mouth, Vertebral seg... ORPHA:96125
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Hepatic fibrosis, Abnormali... ORPHA:333
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Met... ORPHA:2788
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... OMIM:613845
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro... OMIM:256550
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Multiple Sulfatase Deficiency
Smooth philtrum, Broad hallux phalanx, Hepatomegaly, Cataract, Corneal opacity, Joint stiffness, ... ORPHA:585
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, B... ORPHA:955
Alpha-Mannosidosis, Infantile Form
Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Oligosacchariduria, Cortical thick... ORPHA:309282
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Splenomegaly, Aminoaciduria, Abnormal metaphysis morphology ORPHA:417
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... OMIM:122470
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, White hair, Premature g... ORPHA:1775
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Conjugated hy... OMIM:614866
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, Abnormal intestine... ORPHA:397596
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Tremor, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis... OMIM:274150
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Dela... OMIM:613320
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Ac... OMIM:618419
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Sandwich appearance o... OMIM:259700
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... ORPHA:85443
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Scheie Syndrome
Mandibular prognathia, Corneal opacity, Short neck, Genu valgum, Aortic valve stenosis, Spondylol... OMIM:607016
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Low ... OMIM:617796
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hiatus hernia, Micrognat... OMIM:251300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ... OMIM:619534
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro... ORPHA:171
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Singl... OMIM:229850
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced hapto... OMIM:612126
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Normocytic anemia, Elevated hepatic transaminase, Decreased circu... OMIM:300972
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Joint laxity, Elevated hepatic transaminase, Ve... OMIM:615673
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Recurrent fractures, Bone pain, Abnormal lymph node morpho... ORPHA:319487
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... ORPHA:90291
Cinca Syndrome
Joint dislocation, Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormali... ORPHA:1451
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Premature Aging Syndrome, Penttinen Type
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato... OMIM:601812
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Hypoalbuminem... ORPHA:79076
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Ectopic kidney, Abno... ORPHA:887
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... OMIM:614576
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Post... OMIM:619471
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Chronic kidney... OMIM:615630
Gaucher Disease Type 1
Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract obstruction,... ORPHA:77259
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Cardi... ORPHA:3472
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Highly arched eyebrow, Acc... OMIM:617190
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... ORPHA:858
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodies with decreased ante... OMIM:606842
Marden-Walker Syndrome
Short neck, Micrognathia, High, narrow palate, Congenital contracture, Zollinger-Ellison syndrome... OMIM:248700
Gómez-López-Hernández Syndrome
Thin vermilion border, Alopecia of scalp, Corneal opacity ORPHA:1532
Bronchogenic Cyst
Abnormal peritoneum morphology, Back pain, Abnormal pericardium morphology, Abnormal stomach morp... ORPHA:2357