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Gene: Sclt1 MGI:1914411

Gene Summary

Name:

sodium channel and clathrin linker 1

Synonyms:

2610207F23Rik, 4931421F20Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating triglyceride level	Sclt1^em1(IMPC)Tcp	HET	Early adult	1.89×10^-05
preweaning lethality, incomplete penetrance	Sclt1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal eye morphology	Sclt1^em1(IMPC)Tcp	HET	Early adult	0.00
polydactyly	Sclt1^em1(IMPC)Tcp	HOM	E18.5	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.

Eye Morphology

Images Ophthalmoscopy

95 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E18.5

Images

8 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Sclt1 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 Sclt1 (1 diseases)
Human diseases predicted to be associated with Sclt1 (1193 diseases)

The table below shows human diseases associated to Sclt1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bardet-Biedl Syndrome		Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, H...	ORPHA:110

The table below shows human diseases predicted to be associated to Sclt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A9	Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618219
Polydactyly, Postaxial, Type A10	Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618498
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Polydactyly, Preaxial I	Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu...	OMIM:174400
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal...	OMIM:174200
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly...	OMIM:186350
Scalp Defects And Postaxial Polydactyly	Postaxial polydactyly type A	OMIM:181250
Bardet-Biedl Syndrome 10	Polydactyly, Obesity, Renal insufficiency, Renal cyst	OMIM:615987
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal hip bone morphology, Renal agenesis, Cleft palate, Upper limb phocomelia, S...	ORPHA:294975
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Urinary incontinence, Genu valgum, Short philtrum, Accessory oral frenulum,...	OMIM:617927
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Ectrodactyly-Polydactyly	Split foot, Split hand, Postaxial hand polydactyly	OMIM:225290
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe	OMIM:176305
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Cone-shap...	OMIM:613091
Femoral-Facial Syndrome	Orofacial cleft, Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Preaxial foot ...	ORPHA:1988
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short distal phalanx o...	OMIM:614091
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Meckel Syndrome, Type 8	Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Cleft upper lip, Cleft palate, Hyperec...	OMIM:613885
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Obesity, Syndac...	OMIM:615982
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Bardet-Biedl Syndrome 14	Polydactyly, Obesity, Renal insufficiency	OMIM:615991
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney, Obesity	OMIM:615988
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:184260
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight, Everted lower lip vermilion, Large hands	ORPHA:1672
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Postaxial hand poly...	ORPHA:2091
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Bardet-Biedl Syndrome 16	Polydactyly, Renal cyst, Renal agenesis, Short stature, Obesity, Renal dysplasia, Stage 5 chronic...	OMIM:615993
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa...	OMIM:604387
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Hypospadias, Short stature, Obesity	ORPHA:141333
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Ring Chromosome 10 Syndrome	Thin vermilion border, Renal hypoplasia/aplasia, Aganglionic megacolon, Sandal gap, Hypocalcemia,...	ORPHA:1438
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Polycystic kidney dysplasia, Single transverse palmar crease,...	OMIM:617866
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal cyst, Hyperechogenic...	OMIM:619902
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Unilateral renal agenesis, High palate, Bilateral talipes equinovarus, Post...	OMIM:618142
Bardet-Biedl Syndrome 5	Polydactyly, Obesity, Syndactyly, Brachydactyly, Micropenis	OMIM:615983
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa...	OMIM:614859
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Say Syndrome	Tapered finger, Short stature, Cleft palate, Proximal renal tubular acidosis, Short distal phalan...	OMIM:181180
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Increased blood urea ...	OMIM:620085
Nephronophthisis 15	Polydactyly, Obesity, Nephronophthisis	OMIM:614845
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dyspla...	OMIM:263200
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ...	OMIM:176240
Trisomy 17P	Orofacial cleft, Clinodactyly of the 5th finger, Hypoplasia of penis, Polycystic kidney dysplasia...	ORPHA:261290
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wrist swelling, Metacarpal osteolysis, Abnormality of the wrist, Carpal osteolysis, Slender long ...	ORPHA:2774
Orofaciodigital Syndrome Xvii	Polydactyly, High, narrow palate, Clubbing of fingers, Decreased body weight, Central Y-shaped me...	OMIM:617926
Thomas Syndrome	Cleft upper lip, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate	ORPHA:3316
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Shor...	ORPHA:3242
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia, Arachnodactyly	ORPHA:1144
Mulibrey Nanism	Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation	ORPHA:2576
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency, Hepatic cysts	OMIM:173900
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Failure to thrive, Wide mouth, Splenomegaly, Long phil...	OMIM:608776
Pallister-Hall Syndrome	Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda...	OMIM:146510
Jeune Syndrome	Abnormal metaphysis morphology, Nephronophthisis, Nephropathy, Postaxial hand polydactyly, Abnorm...	ORPHA:474
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Joubert Syndrome 15	Preaxial polydactyly, Nephronophthisis, Micropenis	OMIM:614464
Joubert Syndrome 35	Recurrent urinary tract infections, Single transverse palmar crease, Renal fibrosis, Hydronephros...	OMIM:618161
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria	OMIM:612075
Aredyld Syndrome	Advanced eruption of teeth, Hepatomegaly, Abnormal dental enamel morphology, Cachexia, Narrow mou...	ORPHA:1133
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Anal atresia, Renal cyst, Short stature, H...	OMIM:613390
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Joubert Syndrome 18	Bowing of the long bones, Renal cyst, Camptodactyly, Postaxial polydactyly, Cleft palate, Lobulat...	OMIM:614815
Pierre Robin Sequence With Facial And Digital Anomalies	Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,...	OMIM:311895
Acrorenal Syndrome	Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Cleft...	ORPHA:971
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Long toe, Elevated circulati...	OMIM:608836
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating creatinine concentration, Hypokalemia, Recurrent urinary tract...	OMIM:613095
Campomelia, Cumming Type	Short stature, Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones	OMIM:211890
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Cachexia, Postaxial hand polydactyly, Short stature, Long philtrum	ORPHA:1389
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,...	OMIM:613092
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Cubitus valgus, Polycystic kidney dysplasia, Single transverse palmar crease, Eleva...	OMIM:214110
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Increase...	OMIM:113650
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr...	OMIM:619110
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Short sta...	OMIM:611555
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Renal hypoplasia/aplasia, Finger clinodactyly, Mesoaxial polydactyly, High ...	ORPHA:2754
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Esophageal atresia, Proximal placement of thumb, Tracheoesophageal fistula, Anal...	OMIM:314390
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Slender build, Weight loss, Gastrointestinal dysmotility	OMIM:613662
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Penoscrotal hypospadias, Short stature, Cleft upper lip, Gro...	OMIM:248340
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Cleft palate, Weight loss, Microglossia	ORPHA:141152
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hypo...	OMIM:612651
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kidney dise...	OMIM:617056
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa...	ORPHA:2756
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Large for gestational age, Enlarged kidney	OMIM:618272
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Renal ...	OMIM:607323
Spinocerebellar Ataxia 48	Cachexia, Urinary incontinence, Dysphagia	OMIM:618093
46,Xy Sex Reversal 4	Long philtrum, High palate, Anal atresia, Increased blood urea nitrogen, Ureteropelvic junction o...	OMIM:154230
X-Linked Intellectual Disability, Cabezas Type	Thick lower lip vermilion, Cubitus valgus, Clinodactyly of the 5th finger, Short philtrum, Hypopl...	ORPHA:85293
Meckel Syndrome, Type 2	Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Intestinal malrota...	OMIM:603194
Joubert Syndrome 39	Postaxial polydactyly, Polycystic kidney dysplasia, Overweight, Joint contracture of the 5th finger	OMIM:619562
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Anodontia, Fibular aplasia, Tarsal synostosis, Hypospadias, Abno...	ORPHA:90652
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive, Hy...	OMIM:613845
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Abnormality of the dentition, Carious teeth, Radioulnar synostosis, M...	ORPHA:3270
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Short stature, Increased blo...	ORPHA:251004
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Polycystic kidney dysplasia, High palate, I...	ORPHA:314588
Rhyns Syndrome	Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Abnormal acet...	ORPHA:140976
Orofaciodigital Syndrome I	Radial deviation of finger, Ovarian cyst, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridg...	OMIM:311200
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Mcdonough Syndrome	Bilateral single transverse palmar creases, Abnormal palate morphology, Short philtrum, Cachexia,...	ORPHA:2471
Meckel Syndrome, Type 5	Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Cleft upper lip, Cleft palate, ...	OMIM:611561
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morpholog...	ORPHA:2473
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short tibia, ...	OMIM:616300
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac...	DECIPHER:46
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration, ...	OMIM:617872
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Intrauterine growth retardation, Short stature, Interphalangeal joint contracture of finger, Long...	OMIM:606242
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys...	OMIM:263520
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Trisomy 4P	Abnormal palate morphology, Radial club hand, Hypospadias, Abnormality of the dentition, Short st...	ORPHA:1738
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Diaphanospondylodysostosis	Enlarged kidney, Hammertoe, Talipes equinovarus, Nephroblastomatosis, Nephrogenic rest, Cleft pal...	OMIM:608022
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Tetrasomy 12P	Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, Everted lower lip vermilion...	ORPHA:884
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Joubert Syndrome 16	Polydactyly, Nephronophthisis, Renal cyst	OMIM:614465
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hypokalemia, Clubbing of fingers, Glossitis, Cachexia, Hypocalcemia, ...	OMIM:175500
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Stomach cancer, Cachexia, Tapered finger, Furrowed tongue, Ha...	ORPHA:2930
Joubert Syndrome 17	Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, High, narrow palate, Hepatomegaly, Myog...	ORPHA:228308
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst, Postaxial polydactyly, Obesity, Syndactyly	OMIM:605231
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Polycystic kidney dysplasia, Short long bone, Metaphyseal widening,...	OMIM:263210
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio...	OMIM:174000
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Renal tubular atrophy, Sta...	OMIM:606966
Meckel Syndrome, Type 10	Hypospadias, Postaxial hand polydactyly, Renal cyst, Camptodactyly, Postaxial polydactyly, Cleft ...	OMIM:614175
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Intestinal malrotation, Multicystic kidney dysplasia	ORPHA:3032
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Intrauterine growth retardation, Abnormal renal corticomedullary di...	OMIM:616733
Meckel Syndrome, Type 3	Polydactyly, Hepatomegaly, Postaxial hand polydactyly, Cleft palate, Multicystic kidney dysplasia...	OMIM:607361
Coach Syndrome 1	Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Esophageal varix, Postaxial hand polyd...	OMIM:216360
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Solitary median maxillary central incisor, Hypospadias, Clinodactyly of th...	ORPHA:217346
Silver-Russell Syndrome	Postnatal growth retardation, Thin vermilion border, Clinodactyly of the 5th finger, Hypospadias,...	ORPHA:813
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Genitopalatocardiac Syndrome	Cleft upper lip, Cleft palate, Hypospadias, Renal cyst	OMIM:231060
Senior-Loken Syndrome	Nephronophthisis, Short stature, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-sha...	ORPHA:3156
Acrorenal-Mandibular Syndrome	Narrow palate, Hypoplasia of the radius, Hypoplasia of the ulna, Polycystic kidney dysplasia, Elb...	OMIM:200980
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne...	OMIM:236700
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn...	OMIM:616730
Distal Deletion 12Q	Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Long philtrum, Overla...	ORPHA:96149
Verheij Syndrome	Intrauterine growth retardation, Renal cyst, Renal agenesis, Renal hypoplasia, Short stature, Cle...	OMIM:615583
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicouret...	ORPHA:1166
Nephronophthisis 9	Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro...	OMIM:613824
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Increased total bilirubin, Mu...	ORPHA:2924
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc...	OMIM:143880
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidn...	OMIM:243910
Idiopathic Achalasia	Gastroesophageal reflux, Decreased circulating prealbumin concentration, Dysphagia, Weight loss	ORPHA:930
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s...	OMIM:612925
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Bardet-Biedl Syndrome 17	Polydactyly, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Short fourt...	OMIM:615994
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Nephronophthisis, Hepatomegaly, Genu valgum, Cone-shaped epiphyses of the phalan...	OMIM:615630
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss	ORPHA:52416
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Anal atresia, Preaxial hand polydactyly, Renal hypoplasia, Renal dysplasia,...	OMIM:601389
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling	OMIM:614870
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia, Obesity, Hydronephrosis, Mesoaxial...	OMIM:615996
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal finger morphology, Vesicouretera...	DECIPHER:81
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricem...	OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612926
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High ...	ORPHA:231140
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration, Short stature, Methylmalonic acidur...	ORPHA:1933
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612924
Bardet-Biedl Syndrome 8	Renal dysplasia, Obesity, Hypospadias, Postaxial polydactyly	OMIM:615985
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Renal hypoplasia/aplasia, Triphalangeal thumb, Aplasia/Hy...	ORPHA:2549
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Preaxial foot polydactyly	OMIM:235750
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Argininuria, Decreased HDL cholesterol concentration, Decrease...	ORPHA:470
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Short philtrum, Cachexia, Tapered finger, Hip contracture, Open mouth, Smooth philtrum, Intrauter...	OMIM:616801
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration...	ORPHA:42
2Q24 Microdeletion Syndrome	Short philtrum, Abnormal oral frenulum morphology, Failure to thrive, Growth delay, Cleft palate,...	ORPHA:1617
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic...	ORPHA:2237
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Gastroesophageal reflux, Cachexia, Gingival overgrowth, 2-3 toe syndactyly, High p...	OMIM:618186
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Renal cyst	OMIM:174050
Galloway-Mowat Syndrome 7	Cubitus valgus, Minimal change glomerulonephritis, Hallux valgus, Single transverse palmar crease...	OMIM:618348
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Short philtrum, Cachexia, Everted lower lip vermilion, Short stature, ...	ORPHA:2058
Renal Tubular Dysgenesis	Bilateral single transverse palmar creases, Proximal tubulopathy, Nephropathy, Multiple renal cys...	ORPHA:3033
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Gastrointestinal hemorrhage, Hepatom...	OMIM:276700
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricem...	OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitia...	ORPHA:79259
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Obesity, Brachydactyly	OMIM:600151
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cortical microcysts, Splenomegaly, Intrauterine growth retardation, Hypospadias, Polycystic...	OMIM:614866
Senior-Loken Syndrome 9	Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Obesity, Stage 5 chronic kidney di...	OMIM:616629
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, In...	ORPHA:2538
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Short philtrum, Tapered distal phalanges of finger, Cachexia, Elbow fle...	ORPHA:371364
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Polycystic kidney...	ORPHA:26791
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Orofacial cleft, Large hands, Cleft upper lip	ORPHA:85287
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the hand, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Cach...	ORPHA:298
Braddock-Carey Syndrome 1	Talipes equinovarus, Everted lower lip vermilion, Camptodactyly, Growth delay, Enamel hypoplasia,...	OMIM:619980
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Split hand, Camptodactyly, Renal hypoplasia, Cleft palate	OMIM:246560
Diaphanospondylodysostosis	Narrow pelvis bone, Cleft palate, Multiple renal cysts	ORPHA:66637
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Hypospadias, Osteolytic defects of the phalanges of the hand, Disloc...	OMIM:102500
Vater/Vacterl Association	Ectopic kidney, Tracheoesophageal fistula, Syndactyly, Absent radius, Intrauterine growth retarda...	OMIM:192350
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Polycystic kidney dysplasia, Micromelia, Postaxial polydactyly, Cleft palat...	OMIM:616546
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Postaxial hand polydactyly, Mic...	OMIM:200995
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal...	ORPHA:1350
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Acetabular dysplasia, Clubbing, Focal segmental glomerulosclerosis...	OMIM:617303
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Orthostatic Hypotension 1	High palate, Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Brachydactyly, Elevated cir...	OMIM:223360
Coach Syndrome 3	Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr...	OMIM:619113
Stromme Syndrome	Preaxial polydactyly, Intestinal malrotation, Hydronephrosis, Wide mouth, Cleft palate, Bilateral...	OMIM:243605
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Obesity, Nephrocalcinosis, Brachydactyly	OMIM:615633
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn...	OMIM:231680
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries	ORPHA:90301
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Wolman Disease	Steatorrhea, Hepatomegaly, Cachexia, Esophageal varix, Growth delay, Splenomegaly	ORPHA:75233
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Meckel Syndrome, Type 1	Radial deviation of finger, Intestinal malrotation, Wide mouth, Splenomegaly, Syndactyly, Intraut...	OMIM:249000
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Recurrent urinary tract infections, Limited elbow extension and s...	OMIM:244600
Majeed Syndrome	Metaphyseal irregularity, Glomerulopathy, Hepatomegaly, Cachexia, Microscopic hematuria, Failure ...	ORPHA:77297
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:607616
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Protein-losing enteropathy, Hepatomegaly, Proximal tubulopathy, Renal cyst, Failure ...	OMIM:602579
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Hypospadias, Y-shaped metatarsals, Postaxial hand polydactyly, Y-shaped metac...	OMIM:175700
Abruzzo-Erickson Syndrome	Short stature, Cleft palate, Hypospadias, Radioulnar synostosis	OMIM:302905
Floating-Harbor Syndrome	Dislocated radial head, Short metacarpal, Microdontia, Nephrocalcinosis, Wide mouth, Congenital p...	ORPHA:2044
Bardet-Biedl Syndrome 9	Polydactyly, Truncal obesity, Postaxial hand polydactyly, Postaxial polydactyly, Obesity, Syndact...	OMIM:615986
Joubert Syndrome 7	Nephronophthisis, Genu valgum, Postaxial hand polydactyly, Renal cyst, Postaxial polydactyly, Sta...	OMIM:611560
Orofaciodigital Syndrome Viii	Polydactyly, High palate, Short stature, Cleft palate, Syndactyly, Short tibia, Median cleft uppe...	OMIM:300484
Christianson Syndrome	Cachexia, Adducted thumb, Dysphagia, Gastroesophageal reflux	ORPHA:85278
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Splenomega...	OMIM:252500
Mosaic Variegated Aneuploidy Syndrome 3	Short stature, Growth delay, Cleft palate, Nephroblastoma, Horseshoe kidney	OMIM:617598
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal obstruction, Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Dec...	ORPHA:85450
Caroli Disease	Hepatomegaly, Polycystic kidney dysplasia, Esophageal varix, Splenomegaly, Weight loss, Cholangio...	ORPHA:53035
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Rectal prolapse, Protein-losing enteropathy, High, narrow palate, Gastr...	ORPHA:79076
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ...	OMIM:603278
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Galactose Epimerase Deficiency	Hepatomegaly, Growth delay, Splenomegaly, Weight loss, Aminoaciduria	ORPHA:79238
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Talipes equinovarus, Femoral bowing, Hepatic cysts, Cystic renal d...	OMIM:615415
Trisomy 18	Narrow palate, Bilateral single transverse palmar creases, Esophageal atresia, Abnormal hip bone ...	ORPHA:3380
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Elevated circulating C-reactiv...	ORPHA:49041
Intestinal Dysmotility Syndrome	High palate, Decreased intestinal transit time, Failure to thrive, Weight loss, Broad philtrum	OMIM:620045
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Cachexia, Abnormality of the upper limb, Narrow mouth, ...	ORPHA:1979
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Hypospadias, Hypoplasia of penis, Ectopic anus, High ...	ORPHA:1703
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Alexander Disease Type I	Cachexia, Failure to thrive, Dysphagia	ORPHA:363717
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Enlarged kidney, Abnormal thumb morphology, Tibial bowing, Abnormal fe...	ORPHA:500095
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Short stature, Radioulnar synostosis, Cleft palate, Shor...	ORPHA:921
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Long philtrum...	OMIM:134780
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Short stature, Brachydactyly, Hepatic cysts, Stage 5 chronic kidney...	OMIM:613819
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Colon cancer	OMIM:135150
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Pancreatic cysts, Intestinal malrotat...	OMIM:208540
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Bardet-Biedl Syndrome 12	Polydactyly, Hydroureter, Postaxial hand polydactyly, Obesity, Hydronephrosis, Postaxial foot pol...	OMIM:615989
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Cachexia, Abnormal gast...	ORPHA:1876
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Pulmonary Blastoma	Weight loss	ORPHA:64741
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Widely spaced teeth, Clinodactyly of the 5th finger, Gastroesophageal ...	OMIM:606232
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, High palate, Abnormality of the humeru...	ORPHA:3098
Polysyndactyly With Cardiac Malformation	Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cysts	OMIM:263630
Harrod Syndrome	Abnormal shoulder morphology, Hypospadias, Narrow mouth, High palate, Abnormal pelvic girdle bone...	ORPHA:2115
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, ...	OMIM:615873
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia, Short stature, Open mouth, Abnormal circulating creatine concent...	ORPHA:52503
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol...	OMIM:252100
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal t...	ORPHA:1834
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Short stature, Obesity, Micropenis	OMIM:245800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin concentration, Polycystic kidney dysplasia, Int...	OMIM:610199
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Recurrent aphthous stomatitis, Crohn's disease, Growth delay, Aphthous ul...	OMIM:266600
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Finger syndactyly, Fetal megacystis, Arachnodactyly, Short palm, L...	ORPHA:73246
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Clubbing, Failure to thrive, Weight loss	ORPHA:79128
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di...	OMIM:200990
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Hirschsprung Disease	Intestinal obstruction, Adducted thumb, Aganglionic megacolon, Intestinal polyposis, Functional a...	ORPHA:388
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Gastrointestinal hemorrhage, Gastro...	ORPHA:2869
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C...	ORPHA:480536
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Abnormal intestine morphology, Bowing of the long bon...	ORPHA:1318
Orofaciodigital Syndrome Iv	Short finger, Short tibia, Tongue nodules, High palate, Short stature, Foot polydactyly, Hand pol...	OMIM:258860
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis, Esophageal varix, Failure to thrive, Hepatosplenomegaly, Abnormal ci...	OMIM:232500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Int...	OMIM:210710
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Intestinal polyposis, Foot polydactyly, Preaxial hand polydactyly, ...	ORPHA:210548
Oligomeganephronia	Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ...	ORPHA:2260
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Suleiman-El-Hattab Syndrome	Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Failure to ...	OMIM:618950
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Meckel Syndrome 14	Polycystic kidney dysplasia, Postaxial hand polydactyly, Bowing of the long bones, Postaxial poly...	OMIM:619879
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Triphalangeal thumb, Gingival overgrow...	OMIM:220500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, ...	OMIM:236500
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Foot polydactyly, Postaxial hand polydactyly	ORPHA:2155
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Renal cyst, Abnormal...	ORPHA:79303
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Laryngotracheoesophageal Cleft Type 4	Cachexia, Intestinal atresia, Tracheoesophageal fistula	ORPHA:93941
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Femoral bowing, Short long bone, Acetabular spurs, Short stature, Failure t...	OMIM:615503
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Protein-losing enteropathy, Gastrointestinal hemorrhage, In...	ORPHA:731
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea, Cachexia, Short palm, Brachydactyly	ORPHA:3217
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviation of the 5th toe...	ORPHA:1692
Nephronophthisis 18	Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ...	OMIM:615862
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Thin vermilion border, Gastroesophageal reflux, Abnormal renal morp...	OMIM:613792
Idiopathic Bronchiectasis	Cachexia, Clubbing	ORPHA:60033
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Postaxial polydactyly, Hyperechogenic kidneys, Renal insufficiency, R...	OMIM:219730
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib...	OMIM:266900
Weaver-Williams Syndrome	Narrow mouth, Cleft palate, Decreased body weight	ORPHA:3448
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Clinodactyly of the 5th finger, Gastroesophageal reflux, Bilateral cleft p...	OMIM:618829
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Hypercholesterolemia, Short philtrum, High palate, Narrow mouth, Sh...	ORPHA:96184
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Ectrodact...	ORPHA:397590
H Syndrome	Delayed puberty, Abnormality of the kidney, Enlarged kidney, Hypertriglyceridemia, Gingival overg...	ORPHA:168569
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Everted lower lip vermilion, Wrist flexion contracture, Lon...	ORPHA:800
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, Preaxial hand p...	ORPHA:380
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos...	OMIM:201000
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Brachydactyly-Preaxial Hallux Varus Syndrome	Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Br...	ORPHA:1278
Drug-Induced Lupus Erythematosus	Increased blood urea nitrogen, Hematuria, Elevated circulating creatine kinase concentration, Ele...	ORPHA:231111
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatomegaly, Abnormality of iron homeostasis, Polycystic kidney dysp...	ORPHA:84064
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Anal atresia, Tracheoesophageal ...	ORPHA:2973
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Ulbright-Hodes Syndrome	Severe intrauterine growth retardation, Short metacarpal, Mesomelia, Short humerus, Abnormal fore...	ORPHA:3404
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Pallister-Hall-Like Syndrome	Postaxial hand polydactyly, Micromelia, Short stature, Cleft palate, Postaxial foot polydactyly, ...	OMIM:241800
Leprechaunism	Postnatal growth retardation, Enlarged kidney, Rectal prolapse, Hepatomegaly, Hypokalemia, Long p...	ORPHA:508
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Renal tubular...	OMIM:613550
Vacterl/Vater Association	Ectopic kidney, Hypospadias, Hypoplasia of penis, Anorectal anomaly, Non-midline cleft of the upp...	ORPHA:887
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Failure to thrive	OMIM:263000
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Polydactyly, Abnormal tongue morphology, Downturned corners of mout...	ORPHA:531151
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Meckel Syndrome, Type 4	Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Cleft palate, Intrauterine grow...	OMIM:611134
Xfe Progeroid Syndrome	Cachexia, Premature loss of teeth, Enamel hypoplasia, Failure to thrive, Severe short stature, Pr...	OMIM:610965
Schisis Association	Tracheoesophageal fistula, Anal atresia, Renal agenesis, Micromelia, Cleft palate, Unilateral cle...	ORPHA:63862
Senior-Loken Syndrome 8	Polydactyly, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulo...	OMIM:616307
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra...	OMIM:311900
Cockayne Syndrome Type 1	Postnatal growth retardation, Hypoplasia of the primary teeth, Hepatomegaly, Abnormality of the d...	ORPHA:90321
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Vesicoureteral reflux, Decreased body weight, Short stature, Hydronephrosis, C...	OMIM:618265
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Fractures of the long bo...	ORPHA:464329
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Senior-Boichis Syndrome	Tubular luminal dilatation, Chronic kidney disease, Esophageal varix, Increased total bilirubin, ...	ORPHA:84081
Desmoplastic Small Round Cell Tumor	Cachexia, Hepatomegaly, Ileus, Weight loss	ORPHA:83469
Fliedner-Zweier Syndrome	Unilateral renal agenesis, High palate, Tracheoesophageal fistula, Anal atresia, Obesity, Hydrone...	OMIM:620511
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Igg4-Related Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu...	ORPHA:449395
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Hyperechogenic kidneys, Splenomegaly, Renal interstitial fibrosis...	OMIM:616217
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate, Gastroesophageal reflux	OMIM:612913
Jackson-Weiss Syndrome	Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Bro...	ORPHA:1540
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, High palate, Postaxial hand polydactyly, Ankyloglossia, Postax...	OMIM:174300
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Genu valgum, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypo...	OMIM:618913
Meckel Syndrome, Type 6	Talipes equinovarus, Aplasia of the bladder, Postaxial hand polydactyly, Renal cyst, Cleft upper ...	OMIM:612284
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re...	ORPHA:1652
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Anorectal anomaly, Intestinal malrotation, Arachnodactyly, Multiple ...	ORPHA:567
Attrv30M Amyloidosis	Cardiomegaly, Abnormal renal physiology, Weight loss, Nephropathy	ORPHA:85447
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Gastroesophageal reflux, Growth delay, Increased blood urea nitrogen, Abnor...	OMIM:223900
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Short long bone, Bifid uvula, Wide mouth, Long phi...	ORPHA:79328
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:603552
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Metaphyseal irregularity, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ...	OMIM:208500
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Acro-Renal-Ocular Syndrome	Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasia of the ulna, A...	ORPHA:959
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, 2-3 to...	OMIM:206920
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p...	OMIM:274150
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic...	OMIM:613159
Genitopalatocardiac Syndrome	Hypospadias, Non-midline cleft of the upper lip, Postaxial hand polydactyly, Downturned corners o...	ORPHA:2075
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Atelosteogenesis Type I	Abnormal fibula morphology, Rhizomelia, Neonatal short-trunk short stature, Short long bone, Clef...	ORPHA:1190
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Gastritis, Ileus, Hypocalcemia, Cachexia, Abnormal intestine mo...	ORPHA:37042
C Syndrome	Hepatomegaly, Radial deviation of finger, Renal cortical cysts, Thick anterior alveolar ridges, D...	OMIM:211750
Pelizaeus-Merzbacher Disease	Short stature, Cachexia, Abnormality of the urinary system, Failure to thrive in infancy	ORPHA:702
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Cornelia De Lange Syndrome 1	Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Abnormal renal morphology, M...	OMIM:122470
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Enlarged kidney, Foot polydactyly, 2-4 toe syndactyly, Nephroblastoma, Ovarian sero...	ORPHA:276280
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency	OMIM:611773
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr...	OMIM:235400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Gastroesophageal reflux, Femoral bowing, Short long b...	OMIM:618188
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th finger...	ORPHA:1001
Hypertelorism-Microtia-Facial Clefting Syndrome	Median cleft palate, Thenar muscle atrophy, Severe short stature, Crossed fused renal ectopia, Ho...	ORPHA:2213
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal pseudo-obstruction, Elevated circulating deoxyuridine concentration, Cachexia, Intesti...	OMIM:603041
Rhyns Syndrome	Nephronophthisis, Short long bone, Short stature, Radial bowing, Short femoral neck, Chronic kidn...	OMIM:602152
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Urethral diverticulum, Anal atresia, Cleft palate, Displacement of the urethr...	ORPHA:95706
Radio-Renal Syndrome	Hypoplasia of the radius, High, narrow palate, Renal hypoplasia/aplasia, Abnormality of the elbow...	ORPHA:3015
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Hypospadias, Sandal gap, Dental crowding, Postaxial polydactyly, ...	OMIM:615761
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Ectopic kidney, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Cleft palate, S...	OMIM:239800
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ...	OMIM:312870
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Duodenal polyposis	OMIM:617100
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormality of the upper urinary tract, Micromelia, Short stature,...	ORPHA:2145
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormality of the gastro...	ORPHA:439232
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate, Hematuria	OMIM:120433
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific...	ORPHA:1856
Ogden Syndrome	Enlarged kidney, Everted upper lip vermilion, Sandal gap, Dysphagia, Cardiomegaly, Intrauterine g...	OMIM:300855
Pyruvate Dehydrogenase E1-Alpha Deficiency	Gastroesophageal reflux, Single transverse palmar crease, Increased serum pyruvate, Abnormal medu...	ORPHA:79243
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphysis, Lip pit, T...	ORPHA:2750
Trisomy 13	Bilateral single transverse palmar creases, High, narrow palate, Postaxial hand polydactyly, Abno...	ORPHA:3378
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Short philtrum, Cleft palate, Hydronephrosis, Intraut...	ORPHA:3305
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Weakness of long finger extensor muscles	ORPHA:35125
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp...	ORPHA:93322
Braddock Syndrome	Unilateral renal agenesis, Short stature, Failure to thrive, Intrauterine growth retardation, Pre...	ORPHA:52047
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Elevated circulating carcinoembryonic antigen concentration, Weight loss	ORPHA:100083
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Non-midline cleft of the up...	ORPHA:1770
Camurati-Engelmann Disease	Delayed puberty, Hepatomegaly, Abnormal femur morphology, Abnormal tibia morphology, Abnormal dia...	ORPHA:1328
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Large for gestational age, Hydroureter, Hypercalciuria, High palate, Abno...	OMIM:615398
Seckel Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal dental enamel morphology, Cachexia, Tooth ag...	ORPHA:808
Burn-Mckeown Syndrome	Thin vermilion border, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Narrow mout...	OMIM:608572
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of...	ORPHA:3320
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Cranioectodermal Dysplasia 3	Nephronophthisis, Widely spaced teeth, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower ...	OMIM:614099
Rett Syndrome	Gastroesophageal reflux, Cachexia, Abnormality of the dentition, Short stature, Short foot	OMIM:312750
Caroli Syndrome	Hematemesis, Abnormality of the kidney, Hepatomegaly, Melena, Polycystic kidney dysplasia, Hyperb...	ORPHA:480520
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Joubert Syndrome 27	Polydactyly, Dilatation of the renal pelvis, Thick lower lip vermilion	OMIM:617120
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Abnormal circulating protein concentration, Hematochezia, Abnormal ci...	ORPHA:103910
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney, Obesity	OMIM:613464
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Joubert Syndrome 37	Hepatomegaly, High palate, Short stature, Postaxial polydactyly, Obesity, Hydronephrosis, Micropenis	OMIM:619185
Biemond Syndrome Ii	Short stature, Preaxial hand polydactyly	OMIM:210350
Mody	Abnormality of the kidney, Large for gestational age, Hepatocellular adenoma, Abnormal circulatin...	ORPHA:552
Trisomy 1Q	Congenital megaureter, Narrow mouth, Anal atresia, Arachnodactyly, Camptodactyly of finger, Hydro...	ORPHA:261344
Flynn-Aird Syndrome	Cachexia, Carious teeth	ORPHA:2047
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe...	OMIM:619736
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Verloove Vanhorick-Brubakk Syndrome	Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Fryns Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Non-...	ORPHA:2059
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Bresek Syndrome	Aganglionic megacolon, Vesicoureteral reflux, Postaxial hand polydactyly, Hypoplasia of the bladd...	ORPHA:85284
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th...	OMIM:169400
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Unilateral renal agenesis, Proximal tubulopathy, Esophageal varix, Elevated circula...	OMIM:614576
Central Diabetes Insipidus	Failure to thrive, Hyponatremia, Nocturia, Weight loss	ORPHA:178029
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Renal cyst, Short stature, Multicystic kidney dyspl...	ORPHA:2031
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Madelung deformity, Enure...	OMIM:301111
Marden-Walker Syndrome	Renal hypoplasia/aplasia, Arachnodactyly, Bifid uvula, Severe short stature, Intrauterine growth ...	ORPHA:2461
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Renal agenesis, Cleft upper lip, Short stature, Cleft ...	OMIM:601076
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Joubert Syndrome 23	Polydactyly	OMIM:616490
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia	OMIM:603471
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor...	ORPHA:90650
Syngap1-Related Developmental And Epileptic Encephalopathy	Thin vermilion border, Hypospadias, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth	ORPHA:544254
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Abnormal renal morphol...	ORPHA:59315
Baller-Gerold Syndrome	Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla...	ORPHA:1225
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis	OMIM:601355
Cerebrocostomandibular Syndrome	Ectopic kidney, Glossoptosis, Short humerus, Long philtrum, Calcaneal epiphyseal stippling, Elbow...	OMIM:117650
Undifferentiated Pleomorphic Sarcoma	Abnormality of the upper limb, Weight loss	ORPHA:2023
Hydrolethalus Syndrome 2	Cleft palate, Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot polydactyly	OMIM:614120
Pfeiffer Syndrome Type 3	Short hallux, Finger syndactyly, Vesicoureteral reflux, High palate, Short foot, Anal atresia, In...	ORPHA:93260
Multiple Epiphyseal Dysplasia Type 4	Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim...	ORPHA:93307
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Decreased body weight, Clinodactyly, Tented upper lip vermilion, ...	ORPHA:313781
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst, Epiphys...	OMIM:614862
Oculopharyngodistal Myopathy	High, narrow palate, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, ...	ORPHA:98897
Carpenter Syndrome 2	Broad thumb, Long philtrum, Narrow palate, Camptodactyly, Carious teeth, Micropenis, Preaxial pol...	OMIM:614976
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss, Renal i...	ORPHA:35710
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Hypomelia With Mullerian Duct Anomalies	Split hand, Postaxial hand polydactyly	OMIM:146160
Faciocardiorenal Syndrome	Narrow mouth, Failure to thrive, Cleft palate, Smooth philtrum, Hypodontia, Horseshoe kidney	ORPHA:1973
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
Short Stature-Micrognathia Syndrome	Bowing of the legs, Penoscrotal hypospadias, Rhizomelia, Gastroesophageal reflux, 2-3 toe syndact...	OMIM:617164
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Growth delay, Failure to thrive...	ORPHA:95427
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Trisomy 20P	Abnormality of the kidney, Abnormal palate morphology, Thin vermilion border, Hypospadias, Short ...	ORPHA:261318
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Hepatomegaly, Rhizomelia, Abnormal femur morp...	ORPHA:1842
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Deep palmar crease, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Thick v...	ORPHA:505248
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypospadias, Hypoplastic ischia	OMIM:616910
Acrofrontofacionasal Dysostosis	Hypospadias, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Microm...	ORPHA:1784
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Wide mouth, Multiple renal cys...	ORPHA:116
Meier-Gorlin Syndrome 7	Dislocated radial head, Clubbing, Hypospadias, Short stature, Cleft palate, Urethral stricture, P...	OMIM:617063
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Tapered finger	OMIM:607131
Orofaciodigital Syndrome Xiv	Epispadias, Supernumerary tooth, Preaxial polydactyly, Aplasia of the epiglottis, Postaxial hand ...	OMIM:615948
Orofaciodigital Syndrome Type 4	Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Severe short stature, I...	ORPHA:2753
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Increased serum bile acid concentration, Hypokalemia, Ileoilea...	OMIM:619377
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Tapered finger, Renal cyst, Carious teeth, Down-sloping shoulders, Dental maloc...	OMIM:615560
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Pyloric stenosis, Failure to thrive, Obesity, Cleft palate, Hand polydac...	ORPHA:261197
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Broad thumb, Mesomelia, Wide mouth, Short distal phalanx of finger, Long philtru...	OMIM:616331
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Rhabdoid Tumor	Renal neoplasm, Hematuria, Hypercalcemia, Weight loss, Neoplasm of the liver	ORPHA:69077
Trisomy X	Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hip dyspl...	ORPHA:3375
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Hypertriglyceridemia, Steatorrhea, Hyperkalemia, Cachexia, Esophageal varix, ...	ORPHA:275761
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Disproportionate short-...	ORPHA:1507
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Long philtrum, Hypospadias, Multicystic kidney dysplasia, Triangula...	OMIM:257300
Joubert Syndrome 14	Short philtrum, Renal cyst, Growth delay, Postaxial polydactyly, Cleft palate, Tented upper lip v...	OMIM:614424
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Renal cyst, Short stature, Metaphyseal dysplasia, Thick vermilion border, Brach...	OMIM:250410
Alagille Syndrome 1	Hypertriglyceridemia, Hypoplasia of the ulna, Duplicated collecting system, Renal tubular acidosi...	OMIM:118450
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Polydactyly, Syndactyly, Smooth philtrum	OMIM:602501
Marden-Walker Syndrome	Postnatal growth retardation, High, narrow palate, Hypospadias, High palate, Narrow mouth, Campto...	OMIM:248700
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open ...	OMIM:616362
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Urinary incontinence, Dysphagia	ORPHA:300605
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei...	OMIM:205400
Kleefstra Syndrome	Advanced eruption of teeth, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Delayed er...	ORPHA:261494
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Urethral valve, Aplasia/Hypo...	OMIM:107480
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi...	OMIM:229850
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Median cleft palate, Short stature, Bilateral talipes equinova...	OMIM:119800
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Sh...	OMIM:268300
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Long toe, Upper limb undergrowth, Recurrent urinary tract infections, ...	OMIM:614527
Tarp Syndrome	Rocker bottom foot, Talipes equinovarus, Finger syndactyly, Single transverse palmar crease, Glos...	ORPHA:2886
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Renal tub...	OMIM:208085
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Congenital Myopathy 17	Overlapping fingers, High palate, Tapered finger, Overlapping toe, Renal hypoplasia, Hand clenchi...	OMIM:618975
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Gastroesophageal reflux, Prominent fingertip pads, S...	OMIM:619721
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Posteriorly placed anus, Short long bone, Anal atresia, Congenital...	OMIM:306955
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,...	OMIM:164745
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,...	OMIM:605282
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Hamartomatous...	ORPHA:109
Joubert Syndrome 2	Nephronophthisis, High palate, Postaxial hand polydactyly, Renal cyst, Failure to thrive, Renal i...	OMIM:608091
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Chordee, Renal dysplas...	ORPHA:96179
Distal Deletion 15Q	Short distal phalanx of finger, Intrauterine growth retardation, Hip dislocation, Short finger, 2...	ORPHA:1596
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Cachexia, Severe short stature, Splenomegaly, Abnormal epi...	ORPHA:191
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Dislocated radial head, Thick anter...	ORPHA:2839
Postaxial Acrofacial Dysostosis	Postnatal growth retardation, Abnormality of the kidney, Hypoplasia of the ulna, Hypoplasia of th...	OMIM:263750
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Weight loss	ORPHA:654
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Finger syndactyly, Short stature, Genu varum	ORPHA:1969
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ...	OMIM:272460
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Joint contracture of the hand, Deep palmar crease, Clinodactyly of the 5th finger, D...	OMIM:247200
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Postaxial hand polyd...	OMIM:101200
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Intestinal malrotation, Bifi...	OMIM:270400
Polyarteritis Nodosa	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abnormality of ...	ORPHA:767
Igg4-Related Aortitis	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Hydronephrosis, We...	ORPHA:449400
Yao Syndrome	Xerostomia, Oral ulcer, Nephrolithiasis, Weight loss	OMIM:617321
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti...	ORPHA:2494
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:620603
Kinsship Syndrome	Dislocated radial head, Mesomelia, Wide mouth, Coxa valga, Hip dislocation, Polydactyly, Fibular ...	OMIM:619297
Carey-Fineman-Ziter Syndrome	Thin vermilion border, Aplasia of the pectoralis major muscle, Glandular hypospadias, Glossoptosi...	ORPHA:1358
Genitopatellar Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short s...	ORPHA:85201
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Delayed puberty, Ectrodactyly, Tooth agenesis, Short stature, Cleft upper lip, Cleft palate, Micr...	OMIM:147950
Orofaciodigital Syndrome X	Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b...	OMIM:165590
Nijmegen Breakage Syndrome	Anal stenosis, Anorectal anomaly, Cachexia, Pollakisuria, Non-midline cleft of the upper lip, Ana...	ORPHA:647
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Arachnodactyly, Bifid uvula,...	OMIM:300373
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Curry-Jones Syndrome	Finger syndactyly, Intestinal malrotation, Broad thumb, Foot polydactyly, Abnormality of thumb ph...	ORPHA:1553
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul...	OMIM:615777
Primary Myelofibrosis	Cachexia, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ...	OMIM:615947
Bardet-Biedl Syndrome 1	Abnormality of the kidney, High, narrow palate, Aganglionic megacolon, Radial deviation of finger...	OMIM:209900
Nager Syndrome	Abnormal palate morphology, Hypoplasia of the radius, Triphalangeal thumb, Unilateral renal agene...	ORPHA:245
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Triangular mouth, Vesicoureteral reflux, Renal cyst, Short stature, Renal h...	OMIM:618460
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Oligodactyly, Short foot, Growth delay, Renal hypoplasia, Wide mo...	OMIM:619758
Short-Rib Thoracic Dysplasia 12	Short long bone, Intestinal malrotation, Splenomegaly, Intrauterine growth retardation, Cystic re...	OMIM:269860
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Duplicated collecting system, Esophageal atresia, Absent radius, Pelvic kidney, T...	OMIM:227646
Johnson Neuroectodermal Syndrome	Everted lower lip vermilion, Failure to thrive, Carious teeth, Cleft palate, Severe short stature...	ORPHA:2316
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Single transverse palmar crease, Short stature, Growth delay, Splenomegaly, Reduced...	OMIM:618541
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Holzgreve Syndrome	Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Hand polydactyly, Cleft palate, Abnorma...	ORPHA:2167
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Hyperhomocystinemia, Stomatitis, Glossitis, Elevated circulating palmi...	ORPHA:79284
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Abnormal gastrointestinal tract morphology, 2-3 toe syndactyly, A...	ORPHA:404440
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Mosaic Trisomy 9	Tessier cleft, Rocker bottom foot, Finger clinodactyly, Deep palmar crease, Hypoplasia of penis, ...	ORPHA:99776
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:267700
Teebi-Shaltout Syndrome	Rocker bottom foot, High, narrow palate, Caudal appendage, Single transverse palmar crease, Oligo...	OMIM:272950
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis, Open mouth	OMIM:608629
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short metacarpal, Renal cyst, Short stature, Brachydactyly, Metaphyseal chondrodysplasia, Intraut...	ORPHA:166035
Cntnap2-Related Developmental And Epileptic Encephalopathy	Obesity, Hepatomegaly, Preaxial polydactyly	ORPHA:163681
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Ureterocele, Abnormal blood ion concentration, Abnormality of ...	ORPHA:79404
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ...	OMIM:603543
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Long philtrum, High, narrow palate, Congenital megaureter, Gastroesophageal...	ORPHA:369837
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypospadias, Gastroesopha...	ORPHA:464306
Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia, Xerostomia, Tongue atrophy	ORPHA:803
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Hematuria, Gastroesophageal reflux, Abnormal gastrointestinal tract morpholo...	ORPHA:1018
Erythrokeratodermia Variabilis	Short stature, Patchy palmoplantar hyperkeratosis, Brachydactyly, Weight loss, Tapered finger	ORPHA:317
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Hematochezia, Weight loss	OMIM:191390
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:86893
3P25.3 Microdeletion Syndrome	High, narrow palate, Proximal placement of thumb, Short philtrum, Tapered finger, Pyloric stenosi...	ORPHA:435638
Culler-Jones Syndrome	Short stature, Cleft upper lip, Postaxial polydactyly, Cleft palate, Micropenis	OMIM:615849
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Sandal gap, High palate, Everted lower lip vermilion,...	ORPHA:261349
Trisomy 10P	Abnormality of the kidney, Thin vermilion border, Orofacial cleft, Abnormality of the hand, Ulnar...	ORPHA:171929
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u...	ORPHA:230
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys...	OMIM:137920
Frontometaphyseal Dysplasia 1	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increa...	OMIM:305620
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Long philtrum, Abnormality of the dentition, Anal atresia, Short foot, Short stature, Postaxial p...	OMIM:300968
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Pseudomyxoma Peritonei	Intestinal obstruction, Weight loss, Inflammation of the large intestine	ORPHA:26790
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me...	OMIM:260660
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Tooth agenesis, Hypoplastic pelvis, Split foot, Abnormal palmar dermato...	ORPHA:2092
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Cachexia, Hyponatremia, Splenomegaly	ORPHA:3452
Degcags Syndrome	Wide mouth, Syndactyly, Long philtrum, Intrauterine growth retardation, Polydactyly, Hypospadias,...	OMIM:619488
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Abnormal oral cavity morphology, Weight loss	ORPHA:42642
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Elevated circ...	ORPHA:2070
Stickler Syndrome	Cachexia, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula, Abnormal epiphysis morpholog...	ORPHA:828
Zellweger Syndrome	Hepatomegaly, Hypospadias, Epiphyseal stippling, High palate, Pyloric stenosis, Failure to thrive...	ORPHA:912
Acute Myelomonocytic Leukemia	Abnormality of the gingiva, Weight loss	ORPHA:517
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Steatorrhea, Orofacial cleft, Abnormal small intesti...	ORPHA:92050
Parathyroid Carcinoma	Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp...	ORPHA:143
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ...	ORPHA:158057
Cystic Echinococcosis	Hepatomegaly, Hyperbilirubinemia, Renal cyst, Ovarian cyst, Weight loss, Hepatic cysts, Membranou...	ORPHA:400
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Hypoplasia of penis, Non-midline cleft of the upper lip, Hig...	ORPHA:1752
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Hydroureter, Microcolon, Intestinal malrotation, Hypop...	ORPHA:2241
Chronic Hiccup	Weight loss	ORPHA:396
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Clinodactyly, Taurodontia, Carious teeth, Premature loss o...	ORPHA:2710
Dystonia-Deafness Syndrome 1	Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypoplastic scapulae, ...	OMIM:607371
Infantile Krabbe Disease	Cachexia, Failure to thrive, Shoulder girdle muscle weakness, Gastroesophageal reflux	ORPHA:206436
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem...	ORPHA:18
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Phocomelia, Split hand	ORPHA:3004
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B...	ORPHA:199306
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Short philtrum, Renal agenesis, Short stature, Obesity, Cleft palate, Brachydactyly	ORPHA:247768
Robinow Syndrome	Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Mesomelia, Bifid distal phalanx...	ORPHA:97360
C Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Renal hypoplasia/aplasia, Clin...	ORPHA:1308
Tuberous Sclerosis Complex	Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic...	ORPHA:805
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Pelvic kidney, Tapered finger, S...	ORPHA:464311
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Meckel diverticulum, Vesicoureteral reflux, Anal atresia, Renal ag...	OMIM:115470
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis, Tooth agenesis, Mesom...	ORPHA:818
8P23.1 Microdeletion Syndrome	Thin vermilion border, Hypospadias, Proximal placement of thumb, High palate, Short stature, Grow...	ORPHA:251071
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal ...	OMIM:302960
Townes-Brocks Syndrome	Delayed puberty, Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Wi...	ORPHA:857
Al Amyloidosis	Renal interstitial amyloid deposits, Abnormality of the kidney, Abnormal salivary gland morpholog...	ORPHA:85443
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbilirubinemia,...	ORPHA:447
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Retinitis Pigmentosa 89	Postaxial polydactyly, Esophageal varix, Hepatosplenomegaly	OMIM:618955
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Cleft palate, Abnormal morphology of the radius, Renal insufficiency, Median cl...	ORPHA:2165
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Renal cyst, Long hallux, Large hands, Bifid ureter, Thick vermilion bo...	OMIM:617107
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ...	ORPHA:2307
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insuff...	OMIM:614922
Isaacs Syndrome	Weight loss	ORPHA:84142
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Long...	ORPHA:508533
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal metaphysis morphology, Esophageal atresia, Disproportionate short-limb sh...	ORPHA:93271
Holocarboxylase Synthetase Deficiency	Growth delay, Hyperammonemia, Organic aciduria, Weight loss	ORPHA:79242
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Dysphagia, Splenomegaly, Hypophosphatemia, Stage 5 ch...	OMIM:219800
Proteus Syndrome	Macrodactyly, Enlarged kidney, Cachexia, Abnormal finger morphology, Tooth agenesis, Upper limb a...	ORPHA:744
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short philtrum, Vesicoureteral refl...	OMIM:618454
Hyperlipoproteinemia, Type I	Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent...	OMIM:238600
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur...	ORPHA:94080
Distal Duplication 17Q	Genu valgum, Rhizomelia, Short philtrum, Vesicoureteral reflux, High palate, Short stature, Arach...	ORPHA:3379
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Obesity, Proteinuria, Micr...	OMIM:619471
Nail-Patella Syndrome	Disproportionate prominence of the femoral medial condyle, Biceps aplasia, Short stature, Iliac h...	OMIM:161200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia, Renal cell ...	ORPHA:93111
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Weight loss	ORPHA:50251
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Penile Agenesis	Rectal fistula, Hydroureter, Anorectal anomaly, Abnormality of the bladder, Bilateral renal agene...	ORPHA:49
Cranioectodermal Dysplasia 2	Everted lower lip vermilion, Microdontia, Mesomelia, Splenomegaly, Broad philtrum, Left ventricul...	OMIM:613610
Macrodactyly	Macrodactyly	OMIM:155500
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Hypokalemia, Long penis, Severe postnatal growth retarda...	ORPHA:769
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Hammertoe, High pal...	OMIM:261515
Retinitis Pigmentosa 74	Polydactyly, Abnormal renal morphology, Obesity	OMIM:616562
Acrocardiofacial Syndrome	Hypospadias, Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, Split hand, ...	ORPHA:2008
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Au-Kline Syndrome	Deep palmar crease, Clinodactyly of the 5th finger, Gastroesophageal reflux, Oligodontia, Vesicou...	OMIM:616580
Goodpasture Syndrome	Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscop...	OMIM:233450
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Narrow mouth, Short stature, ...	OMIM:620072
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia,...	OMIM:274000
Frontometaphyseal Dysplasia	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa...	ORPHA:1826
Mend Syndrome	Polydactyly, 2-3 toe syndactyly, High palate, Short stature, Failure to thrive, Long fingers, Bro...	OMIM:300960
Cap Polyposis	Atrophic gastritis, Hematochezia, Weight loss, Colorectal polyposis	ORPHA:160148
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Proportionate short stature, Severe short stature, Weight loss, Left ventr...	ORPHA:3208
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Failure to thriv...	OMIM:212065
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Phocomelia, Schinzel Type	Hypoplasia of the radius, High, narrow palate, Disproportionate short stature, Fibular aplasia, A...	ORPHA:2879
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Cleft palate, Reduc...	OMIM:610188
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Macroglossia	OMIM:261740
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hematuria, Proteinuria, Weight loss	ORPHA:90060
Diamond-Blackfan Anemia 7	Triphalangeal thumb, Vesicoureteral reflux, Esophagitis, Growth delay, Cleft palate, Short thumb,...	OMIM:612562
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest...	OMIM:278000
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Triphalangeal hallux, Intestinal malrotation, Broad...	OMIM:601707
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Fanconi Anemia	Renal hypoplasia/aplasia, Abnormal femur morphology, Meckel diverticulum, Abnormal renal morpholo...	ORPHA:84
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Hypospadias, Gastroesophageal reflux, Early ossification of capital fe...	ORPHA:397715
Refractory Celiac Disease	Protein-losing enteropathy, Jejunitis, Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophospha...	ORPHA:398063
Cornelia De Lange Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Proximal placement of thumb, Hypopla...	ORPHA:199
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Elevated circulating ribitol concentration, Ren...	ORPHA:488618
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy...	OMIM:617895
Leishmaniasis	Hepatomegaly, Abnormal oral cavity morphology, Abnormal oral mucosa morphology, Splenomegaly, Wei...	ORPHA:507
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Short stature, Wide mouth, Smooth philtrum, Renal dysplasia, Deep philtrum, Talipes e...	OMIM:617260
Joubert Syndrome 1	Postaxial hand polydactyly, Renal cyst, Protruding tongue, Triangular-shaped open mouth, Macroglo...	OMIM:213300
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Short hard palate, Glossoptosis, Short stature, Cleft palate, Int...	ORPHA:1393
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Nephroc...	ORPHA:534
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypoplasia of penis, Microdontia, Short 5th finger, Lip pit, Hip disloc...	ORPHA:2322
Osteosarcoma	Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Abnormal tibial metaphysi...	ORPHA:668
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Jacobsen Syndrome	Intestinal malrotation, Abnormality of the anus, Long philtrum, Intrauterine growth retardation, ...	ORPHA:2308
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Esophageal atresia, Slender finger, Short stature, Cleft palate, Pre...	OMIM:610536
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, High palate, Narrow mouth, Anal atres...	ORPHA:989
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Limb undergrowth, Accessory or...	OMIM:619142
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Failure to thrive, Postaxial polydactyly, Proximal renal tubular...	OMIM:615824
Immunodeficiency 27A	Hypoplasia of the femoral head, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia	OMIM:209950
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Nephrotic syndrome, Proteinuria, Weight loss, Gastrointestinal...	ORPHA:330001
Multiple Myeloma	Acute kidney injury, Abnormality of the bladder, Functional abnormality of the gastrointestinal t...	ORPHA:29073
Pseudoaminopterin Syndrome	Orofacial cleft, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip s...	ORPHA:221120
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Cleft soft palate, Azotemia, Intestinal malrotation, Renal hypoplasia, Downturned co...	OMIM:619321
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Renal duplicati...	OMIM:270420
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Intestinal malrotation, Multiple renal cysts, Splenomega...	ORPHA:955
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Femoral bowing, Everted lower lip vermilion, Arachnodact...	OMIM:600920
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Hepatosplenomegaly, Right ventricular hy...	OMIM:267010
Tetraamelia-Multiple Malformations Syndrome	Orofacial cleft, Narrow mouth, Aplasia/Hypoplasia involving the pelvis, Anal atresia, Multicystic...	ORPHA:3301
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98855
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, H...	ORPHA:110
Crane-Heise Syndrome	Hypoplasia of penis, Finger syndactyly, Short distal phalanx of finger, Cleft palate, Intrauterin...	ORPHA:1512
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling	OMIM:601539
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Microsporidiosis	Urethritis, Glossitis, Cachexia, Nephritis, Weight loss, Abnormality of the urinary system physio...	ORPHA:2552
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Renal cyst, Growth delay, Nephrocalcinosis, Renal insufficiency	ORPHA:445038
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:66661
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, 2-3 toe syndactyly, Intestinal malrotation, Patent urac...	OMIM:618280
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619313
Neurocardiofaciodigital Syndrome	Polydactyly, Thin vermilion border, Vesicoureteral reflux, High palate, Short stature, Failure to...	OMIM:619869
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Castleman Disease	Intestinal obstruction, Abnormality of the gastrointestinal tract, Hematuria, Elevated circulatin...	ORPHA:160
Macrophage Activation Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir...	ORPHA:158061
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Hypospadias, Pelvic kidney, Short 5th fi...	ORPHA:508498
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98853
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Weight loss, Abnormal renal tubule morphology	ORPHA:188
Schinzel-Giedion Syndrome	Broad alveolar ridges, Tibial bowing, Wide mouth, Dysphagia, Short distal phalanx of finger, Over...	ORPHA:798
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:54251
Myhre Syndrome	Epispadias, Thin vermilion border, Gingival cleft, Abnormal metaphysis morphology, Hypospadias, A...	ORPHA:2588
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Cleft palate, Preaxial hand polydactyly	ORPHA:79113
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Broad alveolar ridges, Vesi...	OMIM:616975
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Broad thumb, Wide mouth, Splenomegaly, Hypospadias, Po...	ORPHA:373
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Cone-shaped epiphysis, Aplasia of the epiglottis, Hepatomegaly, Short clavic...	OMIM:617088
Acrofacial Dysostosis 1, Nager Type	Radial deviation of finger, Wide mouth, Absent thumb, Absent radius, Overlapping toe, Clinodactyl...	OMIM:154400
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Glomerular sclerosis, Recurrent urinary tract infections, Thickened glomerular base...	OMIM:619487
Lambotte Syndrome	Intrauterine growth retardation, Narrow mouth, Preaxial foot polydactyly	OMIM:245552
3Mc Syndrome 2	Postnatal growth retardation, Limited elbow movement, Caudal appendage, Hypospadias, High palate,...	OMIM:265050
Esophageal Atresia	Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal...	ORPHA:1199
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp...	ORPHA:99880
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ...	OMIM:603553
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Hypocalcemia, Narrow iliac wing, Sho...	OMIM:300712
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Wolf-Hirschhorn Syndrome	Intrauterine growth retardation, Malrotation of small bowel, Hip dislocation, Hypospadias, Short ...	OMIM:194190
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Short stature, Multicystic kidney dys...	ORPHA:261265
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Interphalangeal joint erosions, Weight los...	OMIM:180300
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Fatal Familial Insomnia	Urinary retention, Dysphagia, Weight loss	OMIM:600072
Melnick-Needles Syndrome	Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes eq...	OMIM:309350
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Weight loss	ORPHA:97289
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Budd-Chiari Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Hepatomegaly, ...	ORPHA:131
Follicular Lymphoma	Splenomegaly, Weight loss	ORPHA:545
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Displacemen...	ORPHA:1556
Joubert Syndrome With Hepatic Defect	Orofacial cleft, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Postaxial hand ...	ORPHA:1454
Familial Visceral Myopathy	Aganglionic megacolon, Hydroureter, Vesicoureteral reflux, Arachnodactyly, Camptodactyly of finge...	ORPHA:2604
Eec Syndrome	Renal hypoplasia/aplasia, Proximal placement of thumb, Microdontia, Tooth agenesis, Split foot, T...	ORPHA:1896
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Weight loss	ORPHA:2221
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho...	OMIM:256700
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Hypospadias, Non-midline cleft of the upper lip, Spli...	ORPHA:1335
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Elevated circulating C-reactive protein concentration, Inflammati...	ORPHA:324964
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Polymyositis	Abnormal renal tubule morphology, Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal ref...	ORPHA:732
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Gastroesophageal reflux, Gingival ...	ORPHA:354
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Urinary incontinence, Thick lower lip vermilion, Oral-ph...	ORPHA:404448
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:276621
Wolf-Hirschhorn Syndrome	Abnormality of the kidney, Hypospadias, Short philtrum, Short hallux, Hypoplastic pubic ramus, Ta...	ORPHA:280
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Hypocalcemia, ...	ORPHA:90362
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Weight loss	ORPHA:90003
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, 3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Orofacial ...	ORPHA:17
Neuromuscular Oculoauditory Syndrome	Wrist flexion contracture, Elevated circulating creatine kinase concentration, Multiple renal cys...	OMIM:618733
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Ectopic kidney, Anorectal anomaly, Aplasia/Hypopla...	ORPHA:233
Alstrom Syndrome	Hypertriglyceridemia, Polydactyly, Decreased HDL cholesterol concentration, Hepatomegaly, Truncal...	OMIM:203800
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplastic iliac wing, ...	OMIM:180849
Malignant Peritoneal Mesothelioma	Ileus, Weight loss	ORPHA:168811
Pearson Syndrome	Postnatal growth retardation, Steatorrhea, Hepatomegaly, Hypokalemia, Hypocalcemia, Hyperalaninem...	ORPHA:699
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Postaxial hand polydactyly, Furrowed tongue, ...	ORPHA:564
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration	ORPHA:540
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Clinodactyly of the 5th finger, Stomach cancer, Abnormality of the upper li...	ORPHA:1052
Drug Reaction With Eosinophilia And Systemic Symptoms	Nephrotic syndrome, Enanthema, Weight loss, Renal insufficiency, Tubulointerstitial nephritis	ORPHA:139402
Immunodeficiency 96	Growth delay, Multicystic kidney dysplasia	OMIM:619774
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Glomerulopathy, Hematuria, Gastroesophageal reflux, Proteinuria, Weight l...	ORPHA:183
Alveolar Echinococcosis	Abnormal bladder morphology, Renal cyst, Abnormal pelvis bone morphology, Weight loss, Hepatic cy...	ORPHA:284
Congenital Sialidosis Type 2	Polydactyly, Abnormality of the kidney, Hepatomegaly, Gingival overgrowth, Protruding tongue, Hep...	ORPHA:93400
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal...	ORPHA:1848
Marfan Syndrome	Limited elbow movement, High, narrow palate, Cachexia, Dental crowding, Open bite, Arachnodactyly...	ORPHA:558
Solitary Fibrous Tumor	Hypophosphatemic rickets, Weight loss, Neoplasm of the liver, Urinary retention, Reduced C-peptid...	ORPHA:2126
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Absent radius, Tracheoesophageal fistula, Anal atr...	OMIM:614083
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619802
Huntington Disease	Oral-pharyngeal dysphagia, Decreased body mass index, Abnormal circulating cholesterol concentrat...	ORPHA:399
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Abnormal toe morphology, Dysphagia, Intrauterine growth retardation...	ORPHA:268261
Okamoto Syndrome	Polydactyly, Urinary incontinence, Anal stenosis, Gastroesophageal reflux, Severe postnatal growt...	ORPHA:2729
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormal intestine morphology, Dysphagia, Abnormality of the anus, Long phil...	ORPHA:1606
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Disproportionate short-limb short stature, Wide m...	ORPHA:709
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hypotriglyceridemia...	ORPHA:2298
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Recurrent aphthous stomatitis, Stomat...	OMIM:212750
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Talipes equinovarus, Median cleft palate, Aplasia/Hypoplasia of the tibia, W...	ORPHA:1827
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi...	ORPHA:1120
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne...	OMIM:277000
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Reduced haptoglobin level, Hypospadias, Hyperbilirubinemia, Unconjugated hyperbilir...	OMIM:613673
Malignant Atrophic Papulosis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Intestinal perforation, Intestinal fis...	ORPHA:679
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger, Nephrolithiasis, Short stature, Desmoid tumors, Neph...	ORPHA:137605
Ear-Patella-Short Stature Syndrome	Epispadias, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Hypoplasia of penis...	ORPHA:2554
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Cachexia, Esophageal varix, Growth delay, Hepatosplenomegaly, Splenomegaly, Hall...	ORPHA:2072
Juvenile Huntington Disease	Weight loss	ORPHA:248111
X-Linked Agammaglobulinemia	Hypocalcemia, Glossoptosis, Short stature, Failure to thrive, Weight loss	ORPHA:47
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Simple Cryoglobulinemia	Abnormality of the kidney, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract...	ORPHA:91139
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation...	ORPHA:353277
Constricting Bands, Congenital	Tessier cleft, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyly, Bladder exstrophy, Ta...	OMIM:217100
Carney-Stratakis Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Dysphagia, We...	ORPHA:97286
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Microdontia, Ureterocele, Split foot, Urethral stenosis, Selective tooth agenesis, Carious teeth,...	OMIM:604292
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Intestinal fistula, Hydronephrosis, Zollinger-Ellison syndrome, Functi...	ORPHA:100078
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Failure ...	OMIM:617527
Short Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Microdontia, Short palm, Severe ...	ORPHA:3163
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Abnormal metacarpophalan...	ORPHA:465508
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Acute Promyelocytic Leukemia	Hematuria, Stomatitis, Gingival overgrowth, Gingival bleeding, Weight loss	ORPHA:520
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis, Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Spondyloenchondrodysplasia With Immune Dysregulation	Short iliac bones, Metaphyseal sclerosis, Tubulointerstitial fibrosis, Short stature, Metaphyseal...	OMIM:607944
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Epispadias, Hypospadias, Finger syndactyly, Broad thumb, Long philtrum, Broad hallux phalanx, Abn...	ORPHA:2211
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:29072
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Exagger...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Exagger...	ORPHA:352665
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration	ORPHA:444490
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:391
Benign Recurrent Intrahepatic Cholestasis	Acholic stools, Hepatocellular carcinoma, Weight loss	ORPHA:65682
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Short stature, Failure to thrive, Su...	OMIM:301022
Monosomy 9Q22.3	Polydactyly, Large for gestational age, Orofacial cleft, Long philtrum, Palmar pits, Delayed erup...	ORPHA:77301
Pallister-Hall Syndrome	Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Intrauterine growt...	ORPHA:672
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Failure to thrive, Cleft palate, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Proportionate short stature, Increased circulating renin level, Hyponatremia, Weigh...	ORPHA:171876
Isolated Permanent Neonatal Diabetes Mellitus	Abnormality of the upper urinary tract, Glycosuria, Failure to thrive, Moderate albuminuria, Down...	ORPHA:99885
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss	ORPHA:514
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t...	OMIM:607932
Pseudo-Torch Syndrome 2	Hepatomegaly, Abnormal renal corticomedullary differentiation	OMIM:617397
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Weight loss	ORPHA:312
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Dental crowding, ...	ORPHA:3310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Dysuria, Intestinal perforation, Tracheoesophageal fistula, Dysphagi...	ORPHA:537
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperuricemia, Hyperammonemia, Weight loss, Ketonuria	ORPHA:134
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Dysphagia, Weight loss	ORPHA:142
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Acute Adrenal Insufficiency	Renal salt wasting, Delayed puberty, Hyperkalemia, Hyperuricemia, Increased circulating renin lev...	ORPHA:95409
Thymoma	Neoplasm of the gastrointestinal tract, Ulcerative colitis, Weight loss, Glomerulonephritis	ORPHA:99867
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Gapo Syndrome	High, narrow palate, Thick lower lip vermilion, Hepatomegaly, Tubulointerstitial fibrosis, Erupti...	OMIM:230740
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Cerebrooculonasal Syndrome	Narrow palate, Postnatal growth retardation, Solitary median maxillary central incisor, High pala...	OMIM:605627
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Long philtrum, Overlapping toe, Tooth malposition, Cyst of the ductus choledochu...	ORPHA:480880
Perry Syndrome	Weight loss	ORPHA:178509
Wilson Disease	Abnormality of the hand, Hepatomegaly, Increased body weight, Failure to thrive, Splenomegaly, We...	ORPHA:905
Oromandibular Dystonia	Abnormal lip morphology, Dysphagia, Weight loss	ORPHA:93958
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Abnormality of the gastrointestinal tract,...	ORPHA:2902
Huntington Disease-Like 1	Abnormal shoulder morphology, Weight loss	ORPHA:157941
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Everted lower lip vermilion, Trach...	ORPHA:904
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Familial Glucocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Recurrent urinary tract infections, Failure to thrive, Hypernat...	ORPHA:361
Hydrolethalus Syndrome 1	Hypospadias, Talipes equinovarus, Upper limb undergrowth, Postaxial hand polydactyly, Preaxial ha...	OMIM:236680
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatomegaly, Elevated circulating C-reactive protein c...	ORPHA:829
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Hypospadias, Po...	OMIM:304120
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration	ORPHA:79086
Tuberous Sclerosis 1	Gingival fibromatosis, Renal cell carcinoma, Renal cyst, Dental enamel pits, Renal angiomyolipoma	OMIM:191100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Immunodeficiency 31C	Delayed puberty, Protein-losing enteropathy, Hepatomegaly, Short stature, Growth delay, Gastroint...	OMIM:614162
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Dysphagia, Weight loss, Esophageal str...	ORPHA:36426
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Anoperineal fistula, Elevated circulating C-reactive protein concentration, Chr...	OMIM:301074
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Branchiooculofacial Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflu...	OMIM:113620
Giant Cell Arteritis	Gastrointestinal infarctions, Hematuria, Glossitis, Weight loss, Renal insufficiency	ORPHA:397
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Ne...	ORPHA:440437
Bullous Pemphigoid	Oral mucosal blisters, Weight loss	ORPHA:703
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:33276
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Abnormality of urine homeostasis, Weight loss, Increased urin...	ORPHA:1501
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Charge Syndrome	Delayed puberty, Tracheoesophageal fistula, Dysphagia, Bifid femur, Intrauterine growth retardati...	ORPHA:138
Takayasu Arteritis	Gastrointestinal infarctions, Weight loss	ORPHA:3287
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hypoplastic philtrum	OMIM:620047
Genitopatellar Syndrome	Anal stenosis, Multicystic kidney dysplasia, Delayed eruption of teeth, Anal atresia, Hypoplastic...	OMIM:606170
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:280365
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Acute colitis, Weight loss, Gastrointestinal dysmotility, Hypoalbuminemia	ORPHA:67
Erdheim-Chester Disease	Abnormal metaphysis morphology, Dysuria, Hydronephrosis, Weight loss, Abnormal epiphysis morpholo...	ORPHA:35687
Granulomatosis With Polyangiitis	Intestinal obstruction, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Abnormal oral cav...	ORPHA:900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Pyomyositis	Renal insufficiency, Weight loss	ORPHA:764
Tuberous Sclerosis 2	Gingival fibromatosis, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Absence of renal c...	OMIM:613254
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Pancreatic cysts	OMIM:193300
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Clubbing, Split hand, Growth delay, Cleft upper lip, Cleft palate, Micropenis	OMIM:600460
Renal Nutcracker Syndrome	Hematuria, Renal artery stenosis, Microscopic hematuria, Proteinuria, Weight loss	ORPHA:71273
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Palmar pits, Odontogenic keratocysts of the jaw, Hamartomatous...	OMIM:109400
Choanal Atresia	Polydactyly	ORPHA:137914
Zollinger-Ellison Syndrome	Peptic ulcer, Duodenal ulcer, Intestinal obstruction, Gastrointestinal hemorrhage, Esophagitis, H...	ORPHA:913
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Tented upper lip vermilion, High palate, Deep philtrum	ORPHA:314655
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:3226
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Abnormal palate morphology, Weight loss, Odynophagia	ORPHA:221098
Chand Syndrome	Hydroureter, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morpho...	ORPHA:1401
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Organic aciduria, Short stature, Weight loss,...	OMIM:301310
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Talipes equinovarus, Midline facial cleft, Cleft upper lip, Mesomelic leg sh...	OMIM:603671
Mowat-Wilson Syndrome	Urinary incontinence, Dental crowding, Everted lower lip vermilion, Bifid uvula, Dysphagia, Synda...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Dental crowding, Arachnodactyly, Bifid uvula, Dysphagia, Syndactyly, Adduct...	ORPHA:261537
Autoimmune Pulmonary Alveolar Proteinosis	Clubbing, Weight loss, Abnormal circulating protein concentration	ORPHA:747
Addison Disease	Renal salt wasting, Delayed puberty, Hyperkalemia, Hyperuricemia, Increased circulating renin lev...	ORPHA:85138
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Primary Sclerosing Cholangitis	Hepatomegaly, Neoplasm of the gallbladder, Palmar telangiectasia, Renal insufficiency, Adenocarci...	ORPHA:171
Acrodermatitis Enteropathica	Cheilitis, Glossitis, Furrowed tongue, Short stature, Failure to thrive, Weight loss	ORPHA:37
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho...	ORPHA:635
Graves Disease	Weight loss	OMIM:275000
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Weight loss	ORPHA:216866
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Hyperuricemia, Hyperammonemia, 3-Methylglutaric aciduria, Weight loss, Ketonuria	ORPHA:20
Felty Syndrome	Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Weight loss	ORPHA:47612
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Pemphigus Vulgaris	Oral mucosal blisters, Erosion of oral mucosa, Weight loss	ORPHA:704
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Failure to thrive, Hyponatremia, Hypercalcemia, Weight loss, Celiac disease	ORPHA:199299
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Hematuria, Clubbing of fingers, Stippled calcification in carpal bones, Increased c...	ORPHA:60025
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, O...	ORPHA:457284
Klatskin Tumor	Hepatomegaly, Weight loss, Cholangiocarcinoma	ORPHA:99978
Thymic Carcinoma	Weight loss	ORPHA:99868
Pallister-Killian Syndrome	Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Long philtrum, Alve...	OMIM:601803
Chronic Beryllium Disease	Weight loss	ORPHA:133
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia	ORPHA:158048
Lynch Syndrome	Neoplasm of the stomach, Gastrointestinal hemorrhage, Renal neoplasm, Intestinal polyposis, Neopl...	ORPHA:144
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Colon cancer, Hepatosplenomegaly, Functional intestinal obstructio...	ORPHA:1333
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the hand, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metatar...	ORPHA:85408
Biliary, Renal, Neurologic, And Skeletal Syndrome	Everted lower lip vermilion, Broad thumb, Dark urine, Splenomegaly, Syndactyly, Elevated circulat...	OMIM:619534
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Decreased urinary potassium, Episodic hypokalemia, Obes...	ORPHA:79102
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia	ORPHA:167
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Dysphagia, Renal cyst	OMIM:615636
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hepatosplenomegaly, Weight loss	ORPHA:98850
Primary Hepatic Neuroendocrine Carcinoma	Hepatic cysts, Neoplasm of the liver, Hepatomegaly, Weight loss	ORPHA:100085
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:33577
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Tented philtrum, Hypospadias, Gastroesophageal reflux, Renal cyst, Long philtrum, Anteriorly plac...	ORPHA:495875
Medullary Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:1332
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Dental crowding, Arachnodactyly, Bifid uvula, Dysphagia, Syndactyly, Duplic...	ORPHA:261552
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Hereditary Late-Onset Parkinson Disease	Dysphagia, Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Mucolipidosis Type Ii	Postnatal growth retardation, Abnormal long bone morphology, Limited wrist movement, Gingival ove...	ORPHA:576
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Nephrotic syndrome, Hematochezia, Splenomegaly, Weight loss, Atrophic ...	OMIM:615846
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Melena, Weight loss	ORPHA:100080
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Gastrointestinal hemorrhage, Renal insufficiency, Weight loss	ORPHA:79430
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Postinfectious Vasculitis	Gastrointestinal inflammation, Hematuria, Elevated circulating C-reactive protein concentration, ...	ORPHA:48435
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss	ORPHA:86884
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Hematochezia, Melena, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Hematochezia, Melena, Weight loss	ORPHA:100082
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas...	ORPHA:91500
Poems Syndrome	Hepatomegaly, Metaphyseal sclerosis, Clubbing of fingers, Visceromegaly, Splenomegaly, Weight loss	ORPHA:2905
Loeffler Endocarditis	Weight loss, Left ventricular hypertrophy	ORPHA:75566
Faciocardiomelic Syndrome	Polydactyly, Large for gestational age, Slender long bone, Hypoplastic pelvis, Wide mouth, Long p...	OMIM:612731
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Congenital Fiber-Type Disproportion Myopathy	Talipes equinovarus, Dental crowding, Elbow flexion contracture, High palate, Congenital hip disl...	ORPHA:2020
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Multiple renal cysts, Abnormal urinary co...	ORPHA:538
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia	OMIM:619573
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Glucagonoma	Intestinal obstruction, Steatorrhea, Gastrointestinal hemorrhage, Hepatomegaly, Stomatitis, Gloss...	ORPHA:97280
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Hepatomegaly, Hypercalciuria, Clubbing, Inflammation of the l...	OMIM:181000
Systemic Lupus Erythematosus	Cheilitis, Hematuria, Pyuria, Oral ulcer, Proteinuria, Weight loss, Abnormal pigmentation of the ...	ORPHA:536
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the small intestin...	ORPHA:97261
Reactive Arthritis	Recurrent urinary tract infections, Recurrent aphthous stomatitis, Weight loss, Inflammation of t...	ORPHA:29207
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Splenomegaly, Cardiomegaly, Hypoalbuminemia	ORPHA:75565
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Gingival bleeding, Splenomegaly, Weight loss	ORPHA:729
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the small intestin...	ORPHA:97278
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Intestinal pseudo-obstruction, Scapular winging, Dysphagia, Weight loss, Mildly elevated creatine...	OMIM:607459
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Unilateral renal agenesis, Hypospadias, Postaxial hand polydactyly, Ectrod...	OMIM:308205
Perry Syndrome	Weight loss	OMIM:168605
Chronic Graft Versus Host Disease	Hematuria, Abnormal esophagus physiology, Gastroesophageal reflux, Xerostomia, Phimosis, Abnormal...	ORPHA:99921
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated circulating C-reactive protein ...	ORPHA:1304
Riddle Syndrome	Short stature, Enuresis nocturna, Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:420741
Somatostatinoma	Intestinal obstruction, Steatorrhea, Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the s...	ORPHA:97283
Q Fever	Hepatomegaly, Hematuria, Hepatosplenomegaly, Splenomegaly, Weight loss	ORPHA:781
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Elevated circulating C-reactive ...	OMIM:619381
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Hepatomegaly, Splenomegaly, Weight loss	ORPHA:98849
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Melena, Zollinger-Ellison syndrome, Weight loss	ORPHA:100075
Norrie Disease	Thin vermilion border, Cachexia, Failure to thrive, Delayed puberty	ORPHA:649
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Multiple Endocrine Neoplasia Type 1	Peptic ulcer, Duodenal ulcer, Hematemesis, Melena, Gastroesophageal reflux, Gingival fibromatosis...	ORPHA:652
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Elevated circulating C-reactive protein concentration, E...	ORPHA:93672
Peripheral Primitive Neuroectodermal Tumor	Elevated circulating alpha-fetoprotein concentration, Elevated carcinoma antigen 125 level, Weigh...	ORPHA:370348
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Tubulointerstitial nephritis, Abnormality of the submandibula...	ORPHA:79078
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Long penis, Elevated urinary epinephrine level, Urogenital sinu...	ORPHA:90794
Bronchial Neuroendocrine Tumor	Hepatomegaly, Weight loss	ORPHA:97287
Pagod Syndrome	Short stature, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:991
Pneumocystosis	Weight loss	ORPHA:723
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr...	OMIM:256040
Behçet Disease	Glomerulopathy, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Oral ulcer, Splenomeg...	ORPHA:117
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, High palate, Dysphagia, Weight loss	OMIM:164310
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Steatorrhea, Weight loss, Colitis	ORPHA:309031
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst...	ORPHA:892
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper...	ORPHA:189427
Sarcoidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Hypercalciuria, Parotitis, Nephrolithias...	ORPHA:797
Vipoma	Hepatomegaly, Hypokalemia, Abnormal gastrointestinal motility, Hypercalcemia, Benign gastrointest...	ORPHA:97282
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Hutchinson-Gilford Progeria Syndrome	Thin vermilion border, Severe failure to thrive, Delayed eruption of teeth, Dental crowding, Shor...	ORPHA:740
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia	ORPHA:1830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration,...	OMIM:615287
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Craniofacial Microsomia 1	Transverse facial cleft, Genu valgum, Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Clef...	OMIM:164210
Loeys-Dietz Syndrome 2	Absent distal phalanges, Camptodactyly, Eosinophilic infiltration of the esophagus, Arachnodactyl...	OMIM:610168
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Granulomatosis With Polyangiitis	Oral ulcer, Weight loss	OMIM:608710
Familial Thrombocytosis	Splenomegaly, Weight loss	ORPHA:71493
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated circulating C-reactive protein ...	ORPHA:50918
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Weight loss	ORPHA:100086
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Loeys-Dietz Syndrome 1	High palate, Postaxial hand polydactyly, Camptodactyly, Eosinophilic infiltration of the esophagu...	OMIM:609192
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Polydactyly, Pituitary dwarfism, Median cleft palate, Abnormal digit morphology,...	ORPHA:95494
Rat-Bite Fever	Parotitis, Weight loss	ORPHA:31205
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Pancreatoblastoma	Weight loss	ORPHA:677
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Pmm2-Cdg	Abnormal renal tubule morphology, Reduced thyroxin-binding globulin, High palate, Nephrotic syndr...	ORPHA:79318
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Intra-oral hyperpigmentation, Increased body weight, Small intestine car...	ORPHA:99889
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Tropical Pancreatitis	Weight loss	ORPHA:103918
Dermatomyositis	Elevated circulating creatine kinase concentration, Gastrointestinal stroma tumor, Dysphagia, Wei...	ORPHA:221
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Protruding tongue, Splenomegaly...	ORPHA:2388
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Hypokalemia, Weight loss	ORPHA:91347
Malt Lymphoma	Weight loss	ORPHA:52417
African Trypanosomiasis	Urinary incontinence, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Weight loss, Renal insuffic...	ORPHA:3385
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia	ORPHA:324
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Nocardiosis	Weight loss	ORPHA:31204
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Alström Syndrome	Hypertriglyceridemia, Hyperlipidemia	ORPHA:64
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

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 Sclt1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Sclt1.

No publications found that use IMPC mice or data for Sclt1.

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

MGI Allele	Allele Type	Produced
Sclt1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sclt1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sclt1^em1(IMPC)Tcp	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: Sclt1 MGI:1914411

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Gross Pathology and Tissue Collection

X-ray

X-ray

Eye Morphology

X-ray

Gross Morphology Embryo E18.5

MicroCT E18.5

X-ray

Electrocardiogram (ECG)

Human diseases caused by Sclt1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data