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Gene: Fgf20 MGI:1891346

Gene Summary

Name:

fibroblast growth factor 20

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal stomach morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating serum albumin level	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	8.14×10^-05
increased circulating total protein level	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	7.56×10^-05
abnormal skin morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged stomach	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
corneal opacity	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	7.50×10^-05
increased circulating HDL cholesterol level	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	6.91×10^-05
small kidney	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal startle reflex	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	2.07×10^-16
abnormal kidney morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal vertebrae morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	1.69×10^-06
abnormal tooth morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	4.34×10^-05
abnormal uterus morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased kidney weight	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	4.64×10^-10
increased blood urea nitrogen level	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	2.43×10^-05
abnormal vertebral arch morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	3.31×10^-05
abnormal digit morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	2.27×10^-05
abnormal liver morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
fusion of vertebral arches	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	5.60×10^-06
abnormal nail morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	2.13×10^-05
abnormal lymph node morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thoracic cage shape	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	8.36×10^-06
abnormal spleen morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased prepulse inhibition	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	7.46×10^-10
vertebral fusion	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	7.24×10^-07
decreased startle reflex	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	4.19×10^-05
enlarged lymph nodes	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating cholesterol level	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	7.58×10^-06
abnormal bone structure	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal autopod morphology	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	2.13×10^-05
enlarged thymus	Fgf20^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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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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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.

Human diseases associated with Fgf20 (2 diseases)
Human diseases predicted to be associated with Fgf20 (1458 diseases)

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	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
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Premature loss of permanent teeth, Hypertriglyceridemia, Hypospadias, External genital hypoplasia...	OMIM:610644
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Hypocalcemia, Finger syndactyly,...	ORPHA:2136
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Sclerocornea, Cryp...	ORPHA:77298
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u...	ORPHA:2204
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati...	OMIM:613179
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Neutropenia, Hyperammonemia, C...	ORPHA:79312
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Gm1-Gangliosidosis, Type Iii	Dystonia, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking of lumbar verte...	OMIM:230650
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Colon...	ORPHA:97290
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Cataract, Genu recurvatum, Open bite, Splenomegaly, Ab...	ORPHA:2969
Porphyria, Congenital Erythropoietic	Osteopenia, Increased fecal coproporphyrin 1, Conjunctivitis, Hepatomegaly, Hemolytic anemia, Alo...	OMIM:263700
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Cardiomegaly, Gastrointestinal dysmotility, Low anterior hairl...	ORPHA:363705
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia...	ORPHA:79319
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Chime Syndrome	Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morphology, Aplastic clavic...	ORPHA:3474
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal...	OMIM:616589
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaciduria, High palate, U...	OMIM:214100
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Fle...	ORPHA:88630
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossificat...	ORPHA:90674
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Lym...	ORPHA:79477
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Coa...	ORPHA:83617
Congenital Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Abnormal heart m...	ORPHA:93400
Short Syndrome	Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormality ...	ORPHA:3163
Kaposiform Lymphangiomatosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi...	ORPHA:464329
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild...	ORPHA:94088
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Increased serum beta-hexos...	OMIM:252600
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ...	ORPHA:464306
Aicardi Syndrome	Prominence of the premaxilla, Cataract, Block vertebrae, Proximal placement of thumb, Missing rib...	OMIM:304050
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Wor...	ORPHA:2962
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect, Submucous clef...	OMIM:619227
Mucolipidosis Iv	Corneal opacity, Achlorhydria, Abnormal abdomen morphology, Opacification of the corneal stroma, ...	OMIM:252650
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thorac...	OMIM:242900
Scheie Syndrome	Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide ...	ORPHA:93474
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Lymphadenopa...	ORPHA:37748
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio...	OMIM:246700
Gaucher Disease Type 2	Hepatomegaly, Dystonia, Splenomegaly, Flexion contracture, Dysphagia	ORPHA:77260
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Hepatomegaly, Ventricular septal defect, Joint stiffness, Splenomegaly, Cleft ...	OMIM:620210
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Cryptorchidism, Stage 5 chronic k...	OMIM:617575
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Thin upper lip vermilion, Increased circulating thyroglobulin level, Th...	OMIM:610199
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217085
Alpha-Mannosidosis, Adult Form	Osteopenia, Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly, Macr...	ORPHA:309288
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos...	ORPHA:2311
Congenital Myopathy 8	High palate, Scoliosis, Cardiomegaly	OMIM:618654
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormal...	ORPHA:1794
Multiple Sulfatase Deficiency	Hepatomegaly, Broad hallux, Corneal opacity, Splenomegaly, Hypoplastic vertebral bodies, Mucopoly...	OMIM:272200
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Incontinentia Pigmenti	Abnormal hand morphology, Orofacial cleft, Spina bifida occulta, Finger syndactyly, Alopecia, Abn...	ORPHA:464
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Alopecia, Fair hair, External genital hypoplasia, Cardiomegaly,...	ORPHA:79330
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Gast...	ORPHA:562
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Short palm, Patent foramen ovale, Hepatomegaly,...	OMIM:269860
Sialuria	Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Synophrys, Hirsutism, 2-3 ...	OMIM:269921
Cystinosis	Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Malabsorption, Rickets, R...	ORPHA:213
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Pyloric stenosis, Rib...	ORPHA:261197
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the dentition, Kyphosis, Abnormality ...	ORPHA:349
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Cranioectodermal Dysplasia 2	Cholangitis, Short neck, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth,...	OMIM:613610
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217093
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,...	OMIM:600920
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Fused t...	ORPHA:93932
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of t...	ORPHA:1647
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, High palate, Atrial septal defect, Clino...	OMIM:612582
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality...	ORPHA:53
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Tremor, Gastroesophageal r...	ORPHA:96263
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepat...	OMIM:616719
3Mc Syndrome 3	Bifid scrotum, Sacral dimple, Corneal opacity, Highly arched eyebrow, Cleft upper lip, Cryptorchi...	OMIM:248340
Kindler Epidermolysis Bullosa	Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis...	ORPHA:2908
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal d...	OMIM:268300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Elsahy-Waters Syndrome	Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph...	OMIM:211380
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Congenital Disorder Of Deglycosylation 1	Single transverse palmar crease, Oral-pharyngeal dysphagia, Hepatic fibrosis, Chondroitin sulfate...	OMIM:615273
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Low anterior hairl...	OMIM:613153
Congenital Disorder Of Glycosylation, Type Iie	Elevated circulating creatine kinase concentration, Short neck, Secundum atrial septal defect, Mi...	OMIM:608779
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, High palate, Clinodactyly of the 5th finger, P...	OMIM:615637
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Metaphyseal widening, Delayed epiphyseal ossification, Abnormal v...	ORPHA:93352
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Reduced bone mineral density, Athetosis, Nephrotic syndr...	ORPHA:834
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M...	ORPHA:2557
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concent...	OMIM:242150
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular scler...	OMIM:619155
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hemolytic anemia, Gastritis, Alopecia, J...	ORPHA:809
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High pala...	OMIM:613658
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Microretrognathia, Sp...	OMIM:251290
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Protruding tongue, Splenomegaly, Thoracolumbar kyphosis, Joint stiffnes...	OMIM:230600
Pachydermoperiostosis	Bone pain, Avascular necrosis, Genu varum, Hepatomegaly, Osteoporosis, Scoliosis, Anemia, Abnorma...	ORPHA:2796
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Gastroesophage...	OMIM:618268
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Femora...	OMIM:601559
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Corneal opacity, Cataract, Abnormal ...	ORPHA:2719
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Ectopic kidney, Conical tooth, Prominent interphalange...	OMIM:135900
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus, Campt...	OMIM:617333
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners...	ORPHA:2729
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia...	ORPHA:251066
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Cardiomegaly, Oligosacchariduria, Gastroesophageal reflux, Thick vermilion border, Scol...	ORPHA:3137
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Micrognathia, Cryptorchidism, Leu...	ORPHA:99812
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fing...	ORPHA:3253
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Synophrys, Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:619260
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:617093
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal s...	ORPHA:3109
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Tremor, Gastroesophageal r...	ORPHA:96264
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote...	ORPHA:54251
Ulnar-Mammary Syndrome	Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal...	ORPHA:3138
Castleman Disease	Myelofibrosis, Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruc...	ORPHA:160
Stromme Syndrome	Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Micrognathia, ...	OMIM:243605
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat...	OMIM:203500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Protruding tongue...	ORPHA:324410
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Al...	OMIM:277440
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal hair...	ORPHA:3130
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Abnormal heart morphology, Aplasia...	ORPHA:1067
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocarditis, Leukocytosis, T...	ORPHA:292
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,...	OMIM:612714
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Patellar overg...	OMIM:607115
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt...	ORPHA:1507
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Elevated circulating crea...	OMIM:610377
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Iris coloboma, Cervical C5/C6 vertebrae fusion	OMIM:613702
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Splenomegaly, Delay...	ORPHA:2746
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morph...	ORPHA:667
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat...	ORPHA:95699
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla...	OMIM:252940
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Micronodular cir...	OMIM:606003
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Short neck, Microg...	OMIM:305450
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Joint laxity, Corneal opacity, Unilateral renal agenesis, Hip disloca...	OMIM:616603
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Congenital malformatio...	ORPHA:3455
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ...	OMIM:619148
Crisponi/Cold-Induced Sweating Syndrome 1	Kyphoscoliosis, Tapered finger, Short neck, Keratitis, Micrognathia, Narrow mouth, Elbow flexion ...	OMIM:272430
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt...	ORPHA:435638
Meckel Syndrome, Type 1	External genital hypoplasia, Short neck, Asplenia, Micrognathia, Ambiguous genitalia, female, Lob...	OMIM:249000
Fabry Disease	Conjunctival telangiectasia, Corneal dystrophy, Abnormal femur morphology, Reduced bone mineral d...	ORPHA:324
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Abnormal metatarsal morphology, Flexion contracture, ...	ORPHA:85408
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp...	ORPHA:2686
Xp22.3 Microdeletion Syndrome	Sacral dimple, Hypogonadotropic hypogonadism, Polycystic ovaries, Ectopic anus, Opacification of ...	ORPHA:1643
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin co...	ORPHA:90363
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Short...	OMIM:230500
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Bilateral cleft lip and palate, Hematuria, Posterior embryotoxon, Iris...	ORPHA:1473
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Long hallux, Iris coloboma, Abnor...	ORPHA:2308
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Sparse hair, Enamel...	OMIM:613576
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of the cervical spine...	ORPHA:464311
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Short neck, Hypoplasia of the maxilla, Flexion contract...	OMIM:263650
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio...	ORPHA:85451
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:268
Satoyoshi Syndrome	Short metacarpal, Alopecia, Malabsorption, Short metatarsal, Osteolytic defects of the phalanges ...	OMIM:600705
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Microco...	ORPHA:2710
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Graft Versus Host Disease	Elevated hepatic transaminase, Dupuytren contracture, Limited elbow movement, Trismus, Jaundice, ...	ORPHA:39812
Kagami-Ogata Syndrome	Atrial septal defect, Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Microg...	OMIM:608149
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor...	ORPHA:1328
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstr...	OMIM:309900
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration...	ORPHA:36234
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate,...	OMIM:102500
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, ...	OMIM:618143
Lathosterolosis	Hypoplasia of penis, Micrognathia, Microcornea, Downturned corners of mouth, High palate, Hepatom...	ORPHA:46059
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly, Clubbing of fingers,...	OMIM:618982
Walker-Warburg Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Cryptorchidism, Submucous cleft hard palate, Clef...	ORPHA:899
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Short neck, Sclerocornea...	ORPHA:251038
Peters Plus Syndrome	Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Microcornea...	ORPHA:709
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Sinusitis, Splenomegaly, Throm...	OMIM:617591
Babesiosis	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Splenomegaly, Thrombocytopenia, Jaundice, Li...	ORPHA:108
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Corneal scarring, Hypoalbuminemi...	OMIM:610965
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Celiac disease, Jaundice, Hepatic failure, Os...	ORPHA:186
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Carious teeth...	ORPHA:93324
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Small ha...	OMIM:619339
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Atrial septal defect, Ambiguous genitalia, Multicystic kidney dysplasia, Co...	ORPHA:1052
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
Limb Body Wall Complex	Abnormality of the liver, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proxi...	ORPHA:2369
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia	ORPHA:69077
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Meckel Syndrome	Ureteral duplication, Sclerocornea, Micrognathia, Asplenia, Microcornea, Urethral atresia, Access...	ORPHA:564
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Synophrys, Low...	OMIM:613458
Lamb-Shaffer Syndrome	Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Thick vermilion border,...	ORPHA:530983
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis, Recurrent si...	OMIM:240500
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Corneal erosion, ...	ORPHA:79409
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Precocious puberty, Dy...	ORPHA:845
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Microscopic hematuria	ORPHA:84090
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology, Renal insufficiency, Corneal opacity, Recurrent fra...	ORPHA:1764
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Pancreatic...	ORPHA:2869
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Micro...	OMIM:619879
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Micrognathia, Abnormal rib morphology...	OMIM:601076
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp...	ORPHA:231214
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Hiatus hernia, Micrognathia, Narrow mou...	OMIM:617729
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasi...	OMIM:602347
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Abnormal f...	ORPHA:744
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst...	OMIM:616267
Congenital Lethal Erythroderma	Hypoalbuminemia, Malabsorption	ORPHA:1954
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Thakker-Donnai Syndrome	Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned corne...	ORPHA:1780
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflux, Patent for...	OMIM:157800
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Hepatomegaly, Pancytopenia, Lumbar hyperlordosis, Thoracic kyphoscoliosis, Single ...	OMIM:613385
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Odynophagia, Leukopenia, Hypoalbum...	ORPHA:99826
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Pericardial effusion, Leuk...	ORPHA:2905
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Accelerated skeletal maturation, Renal cyst, Vertebral segmentation defect...	OMIM:312870
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Thick hair, Del...	ORPHA:357058
Felty Syndrome	Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Limitation of joint mobili...	ORPHA:47612
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp...	OMIM:607944
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Sézary Syndrome	Hepatomegaly, Alopecia, Tremor, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dys...	ORPHA:3162
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka...	OMIM:174900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ...	ORPHA:228308
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car...	OMIM:232220
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Prematur...	OMIM:268400
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Leukocyto...	OMIM:618886
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Cold Agglutinin Disease	Back pain, Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul...	OMIM:228000
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Elevated maternal serum alpha-fetoprotein, Oral mucosal blisters, Esophageal atresia, Congenital ...	OMIM:226730
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Genu recurvatum, Fl...	OMIM:617301
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Sp...	ORPHA:221016
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Microcornea, High pala...	OMIM:244450
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Endometriosis, Thin low...	ORPHA:363444
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Hepatomegaly, Abnormal mit...	ORPHA:580
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Abnormality ...	ORPHA:567
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abnormal pericardium morpho...	ORPHA:67
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Sy...	ORPHA:261494
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Downturned corner...	ORPHA:444077
Poikiloderma With Neutropenia	Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Sparse eyebrow...	OMIM:604173
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal...	ORPHA:53035
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl...	ORPHA:2769
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo...	ORPHA:2879
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M...	ORPHA:289
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Sclerocornea, Co...	OMIM:609465
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph...	ORPHA:1606
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Dystonia, Hyperalaninemia, Hypertrophic cardi...	OMIM:614702
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone pain, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, S...	OMIM:614083
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,...	OMIM:618183
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Short neck, Microg...	OMIM:614230
Hsd10 Disease, Infantile Type	Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia, Choreoathetosis, Dystonia,...	ORPHA:391428
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T ce...	ORPHA:98813
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Flexion contracture, Astigmatism, Thoracic kyphosis, Ena...	OMIM:270200
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Micrognathia, Synophrys, Bilateral renal hypoplasia, Low a...	OMIM:619488
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null...	ORPHA:97289
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cutaneous finger syndactyly, Abnormal thymus mo...	OMIM:219000
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Downturned corners of mouth, High palate, Atrial septal defect, Clinodactyly of ...	OMIM:617602
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyela...	OMIM:619064
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic finge...	ORPHA:2907
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent foramen ovale, Downturn...	OMIM:618652
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Proteinuria, Abnormal circulating fatty-acid concentration, Enlarged ...	ORPHA:2298
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol...	OMIM:276820
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype...	ORPHA:59303
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Abnormal hair pattern, Abnormal...	ORPHA:1786
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short...	OMIM:609136
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Short neck, High, narrow palate, Micrognathia, B...	ORPHA:96149
Plaa-Associated Neurodevelopmental Disorder	Smooth philtrum, Hyperextensibility of the finger joints, Exaggerated startle response, Tented up...	ORPHA:521426
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Single transverse palmar ...	OMIM:261540
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Familial Pancreatic Carcinoma	Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstructio...	ORPHA:1333
Digeorge Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morpholo...	OMIM:188400
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Mitral valve calcification, Pancytopenia, Corneal opacity, Splenomegaly, Aortic va...	ORPHA:2072
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Thrombocytop...	OMIM:608013
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea...	OMIM:614921
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Microcorne...	OMIM:133540
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He...	ORPHA:103910
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Wildervanck Syndrome	Fused cervical vertebrae, Lens subluxation, Low posterior hairline, Short neck	ORPHA:3456
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morp...	ORPHA:234
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Oeis Complex	Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl...	OMIM:258040
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Square pel...	OMIM:216400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Cataract, Corneal opacity, Myopic astigmatism, D...	OMIM:152950
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenomegaly,...	OMIM:611490
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Gingivitis, Pre...	OMIM:618107
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Stickler Syndrome Type 2	Cataract, Corneal opacity, Cleft palate	ORPHA:90654
Immunodeficiency, Common Variable, 8, With Autoimmunity	Villous atrophy, Atrophic gastritis, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly...	OMIM:614700
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Abn...	OMIM:601499
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Malabsorption, Congenit...	ORPHA:77297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microretrognathia, Hypertriglyceridemia, Ventricular septal defec...	OMIM:619418
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Juvenile...	ORPHA:221008
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Corneal opacity, Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Hyp...	ORPHA:79396
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic...	ORPHA:447
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas...	ORPHA:84064
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Carious teeth, Hypomagnesemia, Delayed skeletal matur...	OMIM:244460
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ...	OMIM:164900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, Tremor, High, narrow palate, Pineal cyst, Gastroesophageal reflux,...	OMIM:300967
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Micrognathia, Splenomegal...	OMIM:261515
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Mi...	OMIM:269300
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceridemia, A...	OMIM:269700
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Lymphadenopathy, Ovarian neoplasm, Macrogl...	ORPHA:2221
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Congenital hip dislocation, Cataract, Epiphyseal dysplasia,...	OMIM:617913
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Cryptorchidism, Atrial se...	OMIM:620327
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Lymphadenopathy, Nep...	ORPHA:39041
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Orch...	ORPHA:32960
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Urinary incontinence, Cardiomegaly, Hepatosplenomegal...	OMIM:268800
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Clubbing, Hyperostosis, Hypoalbuminemia, Periostosis, Knee pain	OMIM:614441
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accele...	OMIM:602535
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Corneal opacity, Exaggerated cupid's bow, Ab...	ORPHA:364577
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Adva...	ORPHA:2348
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea...	OMIM:314390
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceridemia, A...	OMIM:608594
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos...	OMIM:617088
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuri...	ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoalbumine...	OMIM:618329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Spina...	OMIM:253800
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th fin...	OMIM:608670
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Short neck, Synophrys, Cleft palate, Hypoplasia of the uterus, Sh...	ORPHA:247768
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Smooth philtrum, Exaggerated startle response, Tented upper lip vermilion, Rocker bottom foot, Si...	OMIM:617527
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Leukocytosis	ORPHA:90065
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi...	ORPHA:83469
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix,...	OMIM:616028
Microphthalmia With Linear Skin Defects Syndrome	Sclerocornea, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Abnormality of the an...	ORPHA:2556
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Spl...	ORPHA:91138
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Myocarditis, Jaundice...	ORPHA:549
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Renal salt wasting, Reduced bone mineral density, Sex rever...	ORPHA:168558
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Atrial septal defect, ...	ORPHA:438213
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Renal insufficiency, Postural tremor, Proteinuria, Nephrotic syndrome, Focal segmental glomerulos...	OMIM:254900
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de...	OMIM:259720
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas...	ORPHA:230
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl...	OMIM:615122
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal dystrophy, Short neck, Micrognathia, Synophrys, Low anterior hairline, Renal cyst, Anteri...	ORPHA:495875
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Jacobsen Syndrome	U-Shaped upper lip vermilion, Atrial septal defect, Hypospadias, Ventricular septal defect, Missi...	OMIM:147791
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Renal salt wasting, Reduced bone mineral density, Sex rever...	ORPHA:289548
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Hig...	OMIM:115150
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Fg Syndrome 3	Broad hallux, Cryptorchidism, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair, ...	OMIM:300406
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased...	ORPHA:1798
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, ...	OMIM:611881
Refsum Disease, Classic	Short fourth metatarsal, Cataract, Cardiomegaly, Elevated circulating phytanic acid concentration...	OMIM:266500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Downturned corners of ...	OMIM:619522
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge...	OMIM:608184
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Hematu...	ORPHA:1765
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Vertebral compression ...	OMIM:230800
Prolidase Deficiency	Hepatomegaly, Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Low anterior hairline, R...	ORPHA:742
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non...	ORPHA:432
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Hype...	ORPHA:79083
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Congenital pyloric atresia	OMIM:612138
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Mandibular prognathia, Multicystic kidney dysplasia, Absent vas de...	ORPHA:93111
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Malabso...	ORPHA:93
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombo...	OMIM:304790
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, Splenom...	OMIM:615631
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei...	OMIM:615688
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Down...	OMIM:136140
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Micrognat...	OMIM:265800
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Accessory spleen, Joint laxity, Sandal gap, Single transverse palmar crease, Microgna...	OMIM:613177
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger...	OMIM:164200
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalc...	OMIM:601005
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Abnormal de...	ORPHA:2273
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Gastroesophageal reflux, Sparse hair, Bifid u...	OMIM:607812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Peters anomaly, Mi...	OMIM:236670
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Pheochromocytoma, Ganglioneuromatosis, Elevated urinary vanillylm...	ORPHA:653
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Natal tooth, Brittle hair, Cataract, Bilateral cryptorchidism, Pyloric stenosis, Abd...	OMIM:616395
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Reduced natural ...	OMIM:609981
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Micrognathia, Synophrys...	ORPHA:199
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Lentiglobus, Gastroesophageal reflux, Int...	ORPHA:191
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morp...	ORPHA:2461
Johanson-Blizzard Syndrome	Single transverse palmar crease, Conjugated hyperbilirubinemia, Anteriorly placed anus, Downturne...	OMIM:243800
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux,...	ORPHA:98892
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,...	OMIM:129400
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Hepatomegaly, Splenomegaly, Increased vertebral height, Vacuolated lymphoc...	OMIM:248500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy...	OMIM:601356
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Smooth philtrum, Corneal opacity, Micrognathia, Keratitis, Synophrys, Wide mouth, Oligodontia, Co...	OMIM:602562
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense...	OMIM:214500
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Renal insufficiency, Eosinophilia, Osteomyelitis, Abnorm...	ORPHA:228123
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas...	OMIM:181450
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Alopecia, Proteinuria...	ORPHA:93552
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Cor pulmonale, Neutropenia, Lymph node hypoplasia, T lymphoc...	OMIM:300755
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hy...	OMIM:235555
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Proximal placement of thumb, Sclerocornea, Cryptorchidism, Postaxial...	ORPHA:139471
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec...	OMIM:219800
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo...	OMIM:117650
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Micrognathia, Spleno...	ORPHA:280365
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Arachnodactyly, Pyloric stenosis, Cryptorchidism, Flexion contract...	OMIM:310400
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasi...	OMIM:613312
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom...	OMIM:215250
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Alopecia, Generalized lymphadenopathy, E...	ORPHA:50918
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Single transverse palmar crease, Ventricular septal defect, Ovotes...	OMIM:309801
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis...	ORPHA:342
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Single transverse palmar crease, Splenomegaly, Osteopetro...	OMIM:618541
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Limitation of joi...	ORPHA:343
Olmsted Syndrome 1	Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Nail dy...	OMIM:614594
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d...	OMIM:615508
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defe...	OMIM:107480
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy...	ORPHA:158687
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Posterior wedg...	ORPHA:50814
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Recurrent ...	OMIM:150550
Dubowitz Syndrome	Aplastic anemia, Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High pala...	OMIM:223370
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Pyloric stenosis, Nail dystrophy, Enamel hypoplasia	OMIM:226700
Scrub Typhus	Renal insufficiency, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy	ORPHA:83317
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Coarse hair, High p...	OMIM:605309
Metachromatic Leukodystrophy	Dystonia, Urinary incontinence, Abnormal stomach morphology, Tremor, Abnormal gallbladder morphol...	ORPHA:512
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:457279
Wagro Syndrome	Mandibular prognathia, Cataract, Proteinuria, Corneal opacity, Dental crowding, Micrognathia, Ani...	OMIM:612469
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Multiple joint contractures, Hyperplastic labia majora, Hypoal...	ORPHA:79318
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Proteinuria, Hypoplasia of the ciliary bod...	OMIM:609049
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia...	ORPHA:98849
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Ventricular septal defect, Craniosynostosis, Absent thumb, D...	ORPHA:96097
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary ...	ORPHA:2363
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasi...	OMIM:612541
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Ab...	ORPHA:920
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Arnold-Chiari Malformation Type I	Stiff neck, Urinary incontinence, Areflexia of upper limbs, Fused cervical vertebrae, Fatigable w...	ORPHA:268882
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Microretrognathia, Syndac...	OMIM:311200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficien...	ORPHA:79408
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Prote...	ORPHA:731
Papa Syndrome	Proteinuria, Limitation of joint mobility, Lymphadenopathy, Arthritis, Crohn's disease	ORPHA:69126
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Abnormal hair morphology, Neoplasm...	ORPHA:618
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At...	ORPHA:30391
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopen...	ORPHA:277
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl...	ORPHA:268261
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp...	ORPHA:567983
Cockayne Syndrome Type 3	Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Gastroesophag...	ORPHA:90324
Arterial Tortuosity Syndrome	Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, ...	ORPHA:3342
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Microphthalmia, Syndromic 9	Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atrium, Renal hypoplasi...	OMIM:601186
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Thrombocytopenia, Paris-Trousseau Type	Micrognathia, Pyloric stenosis, Radial deviation of finger, Clinodactyly, Thrombocytopenia	OMIM:188025
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe...	ORPHA:75233
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Cataract, Cryptorchidism, Pyloric stenosis, Flexion contracture, Elbow flexion contra...	OMIM:614438
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Cardiomegaly, Micrognat...	ORPHA:97297
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Amelogenes...	ORPHA:169090
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, Fl...	ORPHA:365
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Clubbing, Abnormality of the ureter, ...	OMIM:175200
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Cryptorchidism, Pyloric stenosis, ...	ORPHA:169189
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Cardiomegaly, Accelerated skeletal maturation, Hepat...	ORPHA:116
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma	OMIM:603776
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Micrognathia, Congenital contracture, Talipes equinovarus	OMIM:619036
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Patent foramen ova...	ORPHA:576
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Low anterior hairline, Coa...	ORPHA:2095
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Corneal opacity, Unilateral renal agenesis, Craniosynostosis, Micrognathia, Developmental glaucom...	ORPHA:1064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly	ORPHA:309155
Desmosterolosis	Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu...	ORPHA:35107
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pse...	ORPHA:2044
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Postural tremor, Limb joint contracture, Tapered finger,...	OMIM:301072
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Splenomegaly, Hypogeusia, Decreased serum zinc, Hypogonadism, Alopecia of s...	OMIM:201100
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Scoliosis	OMIM:612918
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Abnormal circulating porphy...	ORPHA:79277
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Spleno...	OMIM:239200
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Esophageal str...	OMIM:224230
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, G...	OMIM:620186
Boutonneuse Fever	Elevated hepatic transaminase, Abnormal skin morphology of the palm, Renal insufficiency, Cervica...	ORPHA:83313
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il...	OMIM:169550
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Small int...	ORPHA:100093
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den...	OMIM:620232
Gomez-Lopez-Hernandez Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Craniosynostosis, Thin vermilion...	OMIM:601853
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Absent...	ORPHA:363618
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Beck-Fahrner Syndrome	Ventricular septal defect, Accelerated skeletal maturation, Cardiomegaly, Hip dysplasia, High pal...	OMIM:618798
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte...	OMIM:201750
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Hip dyspla...	OMIM:617219
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Flexion contracture, Ankle clonus, Scoliosis	OMIM:609541
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Con...	OMIM:602400
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s...	OMIM:614099
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Bone pain, Oligoarthritis, H...	OMIM:142680
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp...	ORPHA:2237
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Corneal opacity, Unilateral renal agenesis, Dilatation...	ORPHA:90348
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Ichthyosis, X-Linked	Testicular neoplasm, Cryptorchidism, Palmar hyperlinearity, Palmoplantar keratoderma, Opacificati...	OMIM:308100
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac...	ORPHA:261330
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Glandular hypospadia...	OMIM:620306
Seckel Syndrome 7	Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hypoplasia of the ut...	OMIM:614851
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes...	OMIM:277460
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Antecubital pterygium, H...	OMIM:616258
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Smooth philtrum, Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet v...	OMIM:300048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ...	ORPHA:379
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly,...	ORPHA:797
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo...	ORPHA:781
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Synophrys, An...	ORPHA:1299
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Gastrointestinal hemorrhage, Malabsorption, Myocarditis...	ORPHA:3452
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, D...	ORPHA:77293
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Mucolipidosis Type Iv	Genu recurvatum, Corneal opacity, Palmoplantar keratoderma, Everted lower lip vermilion, Microdontia	ORPHA:578
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Generalized lymphadenopathy, Hemolytic anemia, Pancytopenia, Pe...	OMIM:615846
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Joint stiffness, P...	OMIM:615934
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:619055
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Amelogene...	OMIM:612783
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Nephroblastoma	Hematuria, Neoplasm of the liver, Aniridia, Lymphadenopathy	ORPHA:654
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, S...	OMIM:222700
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Ankle swelling, L...	ORPHA:3260
Trisomy 18P	Highly arched eyebrow, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Pyloric steno...	ORPHA:1715
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Facial hypertrichosis, Erythrodontia, Abnormal circulating porphyri...	ORPHA:95159
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Corneal opacity, Cardiomegaly, Renal cyst, Polycystic ov...	ORPHA:137675
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Fair hair, Thin upper lip vermilio...	OMIM:608233
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G...	ORPHA:33276
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S...	OMIM:218600
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney, Malar...	OMIM:218350
Autoimmune Lymphoproliferative Syndrome	Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative...	ORPHA:3261
Amed Syndrome, Digenic	Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc...	OMIM:619151
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Sho...	OMIM:613563
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Immunodeficiency 31C	Osteopenia, Hepatomegaly, Villous atrophy, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i...	ORPHA:101085
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Dental crowdin...	ORPHA:261537
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate p...	OMIM:224120
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee...	OMIM:617402
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+...	OMIM:606367
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Elevated circulating creati...	OMIM:137920
Neurofibromatosis Type 1	Abnormal hair quantity, Cataract, Corneal opacity, Recurrent fractures, Joint stiffness, Precocio...	ORPHA:636
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Osteomalacia, Cardiomegaly, ...	ORPHA:51608
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Right ventricular...	OMIM:619472
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ...	OMIM:618052
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Mandibular prognathia, Bicuspid aortic valve, Single transverse pa...	OMIM:150230
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Malabsorption, Atypical ...	ORPHA:83471
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Subvalvular aortic stenos...	OMIM:619461
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Hypospadias, Ventricular septal defect, Bifid uterus, Microgn...	OMIM:236680
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Tented upper lip verm...	OMIM:601803
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Swollen lip, Calcaneovalgus deformity, Pterygium, Patent fo...	OMIM:256520
Stiff-Person Syndrome	Exaggerated startle response, Lumbar hyperlordosis, Anemia, Opisthotonus	OMIM:184850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Dental crowdin...	ORPHA:261552
Esophageal Atresia	Gastrointestinal dysmotility, Anorectal anomaly, Clinodactyly, Gastroesophageal reflux, Abnormal ...	ORPHA:1199
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcor...	OMIM:615877
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Thin vermil...	OMIM:618056
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Abnormality of...	ORPHA:33226
Hyperekplexia 2	Exaggerated startle response, Astigmatism, Gastroesophageal reflux, Hiatus hernia	OMIM:614619
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Keratoconjunct...	ORPHA:779
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Multiple joint contractures, Cardiomegaly, Tremor, Neonatal alloim...	ORPHA:51
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal...	ORPHA:457284
Encephalocraniocutaneous Lipomatosis	Alopecia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of ...	OMIM:613001
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Gastroesophag...	ORPHA:353281
Mowat-Wilson Syndrome	Bifid scrotum, Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Dental crowdin...	ORPHA:2152
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Decreased response to growth hormone stimulation te...	OMIM:615866
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Renal hyp...	OMIM:619321
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Bone pain, ...	ORPHA:53715
Renal And Mullerian Duct Hypoplasia	Micrognathia, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral...	OMIM:266810
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne...	ORPHA:99429
Craniofacial Microsomia 1	Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Hemivertebrae, Limbal dermoid, Vesicoure...	OMIM:164210
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Gastroesophageal reflux, Thick vermilion border, Macrodontia of per...	OMIM:620114
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Bone pain, Gingival overgrowth, Lymphadenopathy, He...	ORPHA:520
Behçet Disease	Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Cataract, Malabsorption, Orchitis...	ORPHA:117
Limb-Mammary Syndrome	Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,...	ORPHA:69085
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl...	OMIM:184705
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Hypoplasia ...	ORPHA:2399
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Multiple joint contractures, Scoliosis	ORPHA:320406
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Kyphosis,...	OMIM:615512
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Epididymitis, Abnormali...	ORPHA:2035
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353277
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Keratitis, Lymphadenit...	ORPHA:331235
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Renal cys...	OMIM:113620
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Pheochromocyt...	ORPHA:1332
Crimean-Congo Hemorrhagic Fever	Stiff neck, Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Chole...	ORPHA:99827
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Enanthem...	ORPHA:139402
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Proboscis Lateralis	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Cataract, Ventricular septal defe...	ORPHA:141099
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Microphthalmia, Syndromic 6	Small scrotum, Single transverse palmar crease, Sclerocornea, Micrognathia, Microcornea, High pal...	OMIM:607932
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s...	ORPHA:100078
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growt...	ORPHA:3464
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Erythematous oral mucosa, Cor pulmonale, Furrowed tongue, Hemat...	OMIM:158310
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Low back pain, Splenomegaly, Acute myelomono...	ORPHA:86843
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membra...	OMIM:619525
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Delayed cranial su...	ORPHA:93325
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Perrault Syndrome 4	Increased circulating gonadotropin level, Osteoporosis, Cleft palate, Hypoplasia of the uterus, B...	OMIM:615300
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormal pupi...	ORPHA:286
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Keratitis, Splenomegaly, Limitation of joint mob...	ORPHA:90340
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Asparagine Synthetase Deficiency	Exaggerated startle response, Micrognathia, Tremor, Large hands, Gastroesophageal reflux, Hypoasp...	OMIM:615574
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium, Premature loss of teeth, Alopec...	OMIM:305000
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El...	OMIM:273250
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Craniosynostosis, Bifid uterus, Supernumerary nipple, Abnorma...	ORPHA:1521
Epidermolysis Bullosa Simplex With Pyloric Atresia	Elevated circulating creatine kinase concentration, Oral mucosal blisters, Abnormality of the ure...	ORPHA:158684
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo...	ORPHA:77261
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Hepatosplenomegaly, Lymphade...	OMIM:260920
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Prominent metopic ridge, Hepatoblastoma, Cardiome...	OMIM:130650
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Abnormality o...	ORPHA:438216
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Marcus ...	OMIM:118400
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Hepatomegaly, Femur fracture, Spleno...	OMIM:612301
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Reduced bone mineral density, Ambiguous genitalia, male, Micropenis, Hy...	ORPHA:90796
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorc...	ORPHA:96191
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Delayed skeletal maturation, Hypoplasi...	OMIM:614837
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Orch...	ORPHA:449563
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ...	OMIM:617466
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Autoamputation of digits, Osteomyelitis, Neuropathic arthropathy, Keratitis, C...	OMIM:256800
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Stiff Person Spectrum Disorder	Exaggerated startle response, Lumbar hyperlordosis	ORPHA:3198
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Dental crowding, High, narrow palate, Rec...	OMIM:309800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ankle clonus, Exaggerated startle response, Overlapping toe	OMIM:618598
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Accelerated skeleta...	ORPHA:90794
Hyperekplexia 3	Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia	OMIM:614618
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Thyroid Lymphoma	Lymphadenopathy, Dysphagia, Goiter	ORPHA:97285
Melkersson-Rosenthal Syndrome	Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia, Oligosacchariduria	ORPHA:2483
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Joint hypermobility, Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defe...	OMIM:130050
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Hypertriglyceridemia, Cataract, Polyuria, Narrow mouth, Developmental cataract...	OMIM:606721
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Tricuspid stenosi...	ORPHA:100079
Biotinidase Deficiency	Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Organic aciduria, Conjunctivitis	OMIM:253260
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Knobloch Syndrome	Cataract, Dextrocardia, Ectopia lentis, Abnormal hair morphology, Pyloric stenosis, Joint hyperfl...	ORPHA:1571
Kawasaki Disease	Glossitis, Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria,...	ORPHA:2331
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Coronary art...	OMIM:615812
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:608885
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation...	ORPHA:64
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Corneal opacity, Abnormal eyelash morphology, Bone cyst, Ost...	ORPHA:2396
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Exaggerated startle response, Joint contracture, Short philtrum	OMIM:617864
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Fine hair, Microcornea, ...	ORPHA:1806
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Multicystic kidney dyspla...	OMIM:308205
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Sparse hair, Microdontia, Microre...	OMIM:278250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Supernumerary nipple, Short neck, Limbal dermoid, Pineal cyst, ...	OMIM:600268
Lymphatic Malformation 6	Micrognathia, Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Scoliosis, Atrial septal d...	OMIM:616843
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Tyrosinemia Type 2	Tremor, Malar flattening, Palmoplantar keratoderma, Corneal opacity	ORPHA:28378
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Tremor, Cardiomyopathy, Intention tremor	OMIM:105210
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Exstrophy-Epispadias Complex	Bifid scrotum, Abnormality of the gastrointestinal tract, Renal insufficiency, Anal stenosis, Uri...	ORPHA:322
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymph...	ORPHA:514
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Reynolds Syndrome	Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Splenomegal...	OMIM:613471
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon...	ORPHA:785
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Che...	ORPHA:293173
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Vesicoureteral reflux,...	OMIM:192350
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Vesicoureteral reflux, Retrognathia, Double i...	OMIM:619869
Galactosialidosis	Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Splen...	ORPHA:163746
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:306400
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Flexion contracture	OMIM:618201
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Accelerated skeletal maturation, Ambiguous genita...	OMIM:202010
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, High, narrow palate, Abnormality iris morpho...	ORPHA:91387
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Abnormal stomach morphology, Abnormality of the ureter,...	ORPHA:141127
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Abnormality...	ORPHA:556
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Abnormality of the lymphatic system, Chylope...	ORPHA:538
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Renal insufficiency, Chronic active hepatitis, Glomerulonephritis...	ORPHA:289390
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Enamel hypoplasia, Conge...	ORPHA:79403
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, M...	OMIM:620233
Woodhouse-Sakati Syndrome	Alopecia, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypoplasia of the fallop...	OMIM:241080
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El...	ORPHA:97287
Oculoauricular Syndrome	Posterior embryotoxon, Cataract, Short mandibular rami, Sclerocornea, Developmental cataract, Mic...	OMIM:612109
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Micrognathia, High p...	OMIM:218040
Aregenerative Anemia	Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ly...	ORPHA:101096
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Cataract, Increased circulating cortisol level...	ORPHA:3453
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa...	OMIM:180900
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Tented upper lip vermilion, Long eyelashes, Short philtrum, Everted...	OMIM:617281
Rodrigues Blindness	Sclerocornea, Fine hair, Microcornea, Sparse hair, Tooth malposition	OMIM:268320
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets	OMIM:208000
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy...	OMIM:601214
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim...	OMIM:146255
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100080
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Gona...	OMIM:612964
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop...	OMIM:614841
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100082
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Orofa...	ORPHA:60030
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ...	ORPHA:439
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Delayed skeletal maturation, Elevated circulating follicle stimulating ...	OMIM:618117
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Enlarged l...	ORPHA:449432
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentrat...	OMIM:175780
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden...	ORPHA:1359
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc...	ORPHA:649
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein ...	ORPHA:420741
Chikungunya	Joint stiffness, Periostitis, Cervical lymphadenopathy, Ankle joint effusion, Osteolysis, Synovit...	ORPHA:324625
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Delayed skeletal maturation, Elevated circulating follicle stimulating ...	OMIM:617690
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyopat...	OMIM:300952
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,...	OMIM:614748
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Long philtrum, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy	ORPHA:199241
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Increas...	OMIM:233450
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic no...	ORPHA:100075
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Small bowel diverticula, Cataract, Pyloric stenosis, Dilatation of the ventricular ...	ORPHA:90349
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Alopecia, Urinary incontinence, Tremor, Myocardi...	ORPHA:3385
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca...	OMIM:221800
Muir-Torre Syndrome	Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A...	ORPHA:587
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism	OMIM:300510
Plague	Hepatomegaly, Chapped lip, Hematemesis, Splenomegaly, Lymphadenitis, Abnormality of the elbow, En...	ORPHA:707
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Ovarian Dysgenesis 9	Elevated circulating luteinizing hormone level, Delayed skeletal maturation, Hypoplasia of the ut...	OMIM:619665
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Abnormality of the de...	ORPHA:910
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Oral ulcer, Cheilitis, Lymphade...	ORPHA:536
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Estrogen Resistance	Osteopenia, Delayed skeletal maturation, Polycystic ovaries, Hypoplasia of the uterus, Breast apl...	OMIM:615363
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Renal Agenesis, Bilateral	Abnormal sacrum morphology, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Siren...	ORPHA:1848
Congenital Tracheomalacia	Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Partial anomalous pu...	ORPHA:95430
Pontocerebellar Hypoplasia Type 7	Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Micrognathia, ...	ORPHA:284339
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Knobloch Syndrome 1	Band keratopathy, Pyloric stenosis, Spina bifida occulta, Developmental cataract, Iris transillum...	OMIM:267750
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia	OMIM:617914
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade...	ORPHA:139411
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Corneal opacity, Peters anomaly	OMIM:120200
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Mowat-Wilson Syndrome	Bifid scrotum, Delayed eruption of teeth, Cataract, Hypospadias, Ventricular septal defect, Super...	OMIM:235730
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Corneal crystals, Renal tubular dys...	ORPHA:411629
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O...	ORPHA:425
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodo...	OMIM:612132
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov...	ORPHA:163934
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Lymphadenopathy, Enlargement of p...	ORPHA:79078
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Dysphagia, Thick eyebrow	OMIM:618367
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Sparse pubic hair, Increased circulating gonadotropin level, Hypoplasia of...	OMIM:110100
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Myocardial steato...	ORPHA:391665
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentratio...	OMIM:615287
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Delayed skeletal maturation, Hypogonadotropic hypogonadism	OMIM:614842
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Cardiomegaly, Lip telangiectasia, Thick vermilion border, Opac...	ORPHA:79280
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Buphthalmos, Everted ...	OMIM:253280
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hig...	ORPHA:572333
Renal Hypodysplasia/Aplasia 2		OMIM:615721

Histopathology

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

There is no histopathology data for Fgf20

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fgf20.

No publications found that use IMPC mice or data for Fgf20.

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MGI Allele	Allele Type	Produced
Fgf20^{tm95301(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fgf20^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fgf20 MGI:1891346

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Human diseases caused by Fgf20 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data