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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
abnormal eye morphology	Sclt1^em1(IMPC)Tcp	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Sclt1^em1(IMPC)Tcp	HOM	Early adult	0.00
increased circulating triglyceride level	Sclt1^em1(IMPC)Tcp	HET	Early adult	1.89×10^-05
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 Slit Lamp

9 Images

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Eye Morphology

Images Ophthalmoscopy

95 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E18.5

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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 (1167 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		Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha...	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	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Scalp Defects And Postaxial Polydactyly	Postaxial polydactyly type A	OMIM:181250
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Obesity, Renal cyst	OMIM:615987
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Urinary incontinence, Accessory oral frenulum, Single transverse palma...	OMIM:617927
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Renal agenesis, Cleft palate, Upper limb phocomelia, Polyd...	ORPHA:294975
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S...	OMIM:613091
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Short stature, Renal hypoplasia/aplasia, Long penis, Orofa...	ORPHA:1988
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly...	OMIM:614091
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Meckel Syndrome, Type 8	Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyp...	OMIM:613885
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Obesity, Renal cyst, Polydac...	OMIM:615982
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly, Obesity	OMIM:615991
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney, Obesity	OMIM:615988
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Diencephalic Syndrome	Cachexia, Long penis, Large hands, Everted lower lip vermilion, Decreased body weight	ORPHA:1672
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O...	OMIM:615993
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly	OMIM:236110
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Biemond Syndrome Type 2	Hypospadias, Short stature, Preaxial polydactyly, Obesity, Delayed puberty	ORPHA:141333
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Cachexia, Renal hypoplasia/aplasia, Tapered finger, Thin vermi...	ORPHA:1438
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatoce...	OMIM:619902
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,...	OMIM:617866
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Bardet-Biedl Syndrome 5	Syndactyly, Obesity, Polydactyly, Micropenis, Brachydactyly	OMIM:615983
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Proximal renal tubular acidosis...	OMIM:181180
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Postaxial polydactyly, P...	OMIM:618142
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce...	OMIM:614859
Nephronophthisis 15	Polydactyly, Obesity, Nephronophthisis	OMIM:614845
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis...	OMIM:263200
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short stature, Tapered finger, Urethral stenosis, Orofacial ...	ORPHA:261290
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Wrist swelling, Downturned corners of mouth, Slen...	ORPHA:2774
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Cleft upper lip	ORPHA:3316
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Cen...	OMIM:617926
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt...	ORPHA:85445
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Renpenning Syndrome	Severe short stature, Macrodontia, Hypospadias, Cachexia, Abnormal thumb morphology, High, narrow...	ORPHA:3242
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Arachnodactyly, Cachexia	ORPHA:1144
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Posta...	ORPHA:474
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Nephronophthisis	OMIM:614464
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Hip dislocation, Hepatosplenomegaly, Wide mouth, Polycystic kidney dysplasia, Long ...	OMIM:608776
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transverse palmar crease...	OMIM:618161
Aredyld Syndrome	Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormali...	ORPHA:1133
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Fanconi Anemia, Complementation Group O	Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia...	OMIM:613390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia, Postaxial hand polydactyly, Long philtrum, Abnormal palate morphology	ORPHA:1389
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal cyst, Cleft palate, Horses...	OMIM:614815
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss...	OMIM:613662
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Short stature, Polycystic kidney dysplasia	OMIM:211890
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala...	OMIM:608836
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Short stature, Shoulder flexion contracture, Rocker bottom foot, Ca...	OMIM:619110
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera...	OMIM:113650
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Single transverse palmar crease, Cubitus valgus, Metatarsus adductus, Cleft palate,...	OMIM:214110
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Tapered finger, Splenomegaly, Hypoge...	ORPHA:2930
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Orofaciodigital Syndrome Type 6	Syndactyly, Failure to thrive, Mesoaxial polydactyly, Renal agenesis, Short stature, Hamartoma of...	ORPHA:2754
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia...	OMIM:611555
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ...	OMIM:314390
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Hypokalemia...	OMIM:175500
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T...	OMIM:612651
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph...	ORPHA:2756
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Weight loss	ORPHA:141152
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Large for gestational age	OMIM:618272
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping ...	ORPHA:85293
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca...	ORPHA:251004
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,...	ORPHA:3270
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti...	ORPHA:90652
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
46,Xy Sex Reversal 4	Renal dysplasia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increa...	OMIM:154230
Joubert Syndrome 39	Overweight, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Renal cyst, Cleft p...	OMIM:603194
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
3Mc Syndrome 3	Short stature, Cleft upper lip, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Cleft palat...	OMIM:248340
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, ...	OMIM:611561
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Rhizomelia, Hamartoma of tongue, Postaxial polydactyly, Cleft lip, Squared iliac bon...	OMIM:616300
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Abnormality of th...	DECIPHER:46
Mcdonough Syndrome	Short stature, Cachexia, Open bite, Dental malocclusion, Short philtrum, Abnormal palate morpholo...	ORPHA:2471
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Large for gestational age, Dilatation of the renal pel...	ORPHA:314588
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Short stature, Hamartoma of tongue, Cleft upper lip, S...	OMIM:311200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat...	ORPHA:884
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Trisomy 4P	Smooth philtrum, Hypospadias, Camptodactyly of finger, Short stature, Abnormality of the dentitio...	ORPHA:1738
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Preaxial ha...	OMIM:606242
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Joubert Syndrome 16	Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Cleft palate, ...	OMIM:608022
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, Postaxial polydactyly, Obesity, Renal cyst	OMIM:605231
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Metaphyseal widening, Short long bone, Narrow greater sciatic notch,...	OMIM:263210
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena...	OMIM:614175
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation	ORPHA:3032
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Clef...	OMIM:616730
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Cachexia, Wide mouth,...	ORPHA:217346
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias, Cleft palate, Cleft upper lip	OMIM:231060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr...	OMIM:616733
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial f...	OMIM:607361
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Malabsorption, Splenomega...	ORPHA:77297
Silver-Russell Syndrome	Dental crowding, Hypospadias, Cachexia, Failure to thrive in infancy, Sandal gap, Short stature, ...	ORPHA:813
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Split hand, Abnorma...	OMIM:200980
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Verheij Syndrome	Thin upper lip vermilion, Renal agenesis, Small for gestational age, Short stature, Hip dislocati...	OMIM:615583
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m...	ORPHA:96149
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Post...	OMIM:216360
Senior-Loken Syndrome	Short stature, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Nep...	ORPHA:3156
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda...	OMIM:236700
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Multiple renal cysts, Abno...	ORPHA:1166
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni...	OMIM:243910
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h...	OMIM:615994
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Ob...	OMIM:615630
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Oral ulcer, Nephrolithias...	OMIM:232220
Idiopathic Achalasia	Weight loss, Decreased prealbumin level, Gastroesophageal reflux, Dysphagia	ORPHA:930
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Multiple renal cysts, Gastroesophageal reflux, Increas...	ORPHA:2924
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc...	OMIM:601389
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Obesity...	OMIM:615996
15q26 overgrowth syndrome	Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl...	DECIPHER:81
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss	ORPHA:52416
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Gastroesophageal reflux, Micropenis, Short statu...	OMIM:134780
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling	OMIM:614870
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Dental crowding, Short stature, Postnatal growth retardation, Upper li...	ORPHA:231140
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur...	ORPHA:1933
Polydactyly, Postaxial, Type A6	Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger	OMIM:615226
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Thin upper lip vermilion, Hip contracture, Failure to thrive in infancy, Cachexia, Tapered finger...	OMIM:616801
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal...	ORPHA:2970
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Short stature, Cachexia, Thick lower lip vermilion, Hip dislocation, Patellar apl...	ORPHA:2058
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux	OMIM:235750
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl...	ORPHA:2549
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Severe postnatal g...	ORPHA:2237
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Single transverse palmar crease, Arachno...	OMIM:618348
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Gingival overgrowth, Narrow palate, 2-3 toe syndactyly, Gastroesophageal reflux, Thick ...	OMIM:618186
Bardet-Biedl Syndrome 8	Hypospadias, Renal dysplasia, Postaxial polydactyly, Obesity	OMIM:615985
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, Bilateral single...	ORPHA:3033
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, Bullet-shaped d...	ORPHA:1617
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip	ORPHA:85287
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephr...	OMIM:616629
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hepatomegaly, Elevated circul...	OMIM:276700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Arachnodactyly, Short stat...	ORPHA:371364
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Growth delay, Focal se...	OMIM:232200
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tub...	ORPHA:79259
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Ante...	OMIM:619980
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Short stature, Dental malocclusion, Renal cyst, Foot acroost...	OMIM:102500
Diaphanospondylodysostosis	Narrow pelvis bone, Multiple renal cysts, Cleft palate	ORPHA:66637
Split-Hand/Foot Malformation 3	Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Bardet-Biedl Syndrome 3	Brachydactyly, Renal hypoplasia, Postaxial polydactyly, Obesity	OMIM:600151
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Hepatomegaly, Mult...	ORPHA:2538
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Conjugated hyperbilirubinemia, Renal cyst, High palate, Hepatome...	OMIM:614866
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Scapular winging, Elevated circulating creatine kinase concentration, Elevated circ...	ORPHA:26791
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small ...	OMIM:200995
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Macroglossia, Nephrotic ...	OMIM:617303
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Hamartoma of tongue, Micromelia, Aplastic clavicle, Postaxial polydactyl...	OMIM:616546
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Abnormality of...	ORPHA:298
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Meckel Syndrome, Type 1	Lobulated tongue, Syndactyly, Cleft upper lip, Elevated amniotic fluid alpha-fetoprotein, Postaxi...	OMIM:249000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Obesity, Nephrocalcinosis, Short long bone, Brachydactyly	OMIM:615633
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Orthostatic Hypotension 1	Increased blood urea nitrogen, High palate, Hypomagnesemia, Nocturia, Brachydactyly	OMIM:223360
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft ...	OMIM:243605
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,...	OMIM:192350
Wolman Disease	Hepatomegaly, Cachexia, Splenomegaly, Esophageal varix, Growth delay, Steatorrhea	ORPHA:75233
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Short stature, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Steatorrhea, Short palm, Brachydactyly	ORPHA:3217
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Clef...	OMIM:244600
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Gastroesophageal reflux, Short...	ORPHA:2044
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Preaxial hand polydactyly, ...	ORPHA:3098
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Short stature, Hypospadias, Cleft palate	OMIM:302905
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hypo...	OMIM:602579
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post...	OMIM:615986
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, Accessory oral ...	OMIM:277170
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarge...	OMIM:615415
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Christianson Syndrome	Adducted thumb, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Trisomy X	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl...	ORPHA:3375
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Progressive alveolar rid...	OMIM:252500
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Mosaic Variegated Aneuploidy Syndrome 3	Short stature, Cleft palate, Horseshoe kidney, Growth delay, Nephroblastoma	OMIM:617598
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Adeno...	ORPHA:79076
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga...	ORPHA:85450
Joubert Syndrome 7	Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge...	OMIM:611560
Intestinal Dysmotility Syndrome	Weight loss, Decreased intestinal transit time, High palate, Failure to thrive, Broad philtrum	OMIM:620045
Trisomy 18	Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract, Cachexia, Esophag...	ORPHA:3380
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Peptic ulcer, Parathormone-independent increased renal tubula...	OMIM:600740
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Abnormal thumb morpho...	ORPHA:500095
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Short stature, Coronal hypospadias, Short toe, Abnormal localization...	ORPHA:921
H Syndrome	Hallux valgus, Hypertriglyceridemia, Short stature, Abnormality of the kidney, Cleft upper lip, M...	ORPHA:168569
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach...	OMIM:613819
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cleft palate, Wide mouth, Ectopic anus...	ORPHA:1703
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Dental malocclusion, 2-3 toe syndactyly, Large hands, Gastroesophageal...	OMIM:606232
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Esophageal varix, ...	ORPHA:53035
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Intestinal malrotation, Pancreatic cysts, Splenomegaly, Ureter...	OMIM:208540
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts	OMIM:263630
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Dental malocclusion, Abnormal shoulder...	ORPHA:2115
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Short stat...	OMIM:252100
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Gastroesophageal reflux, Widely spaced teeth...	OMIM:615873
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Obesity, Cystic renal dysplasia, Postaxial foot polydact...	OMIM:615989
Pulmonary Blastoma	Weight loss	ORPHA:64741
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Axial Mesodermal Dysplasia Spectrum	Short stature, Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoeso...	ORPHA:1834
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Palmoplantar keratoderma, Abnormality of the upper limb, Narrow mouth, Abn...	ORPHA:1979
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Weight loss, Growth delay, Inflammati...	OMIM:266600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Increased circulating thyroglobulin level, Hiatus hernia,...	OMIM:610199
Laurence-Moon Syndrome	Short stature, Abnormality of the hand, Obesity, Polydactyly, Micropenis	OMIM:245800
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A...	ORPHA:73246
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short stature, Preaxial hand polydactyly, Deep phil...	ORPHA:1297
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyl...	OMIM:258860
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Bowing of the long bones, Micromelia, Pancreatic cyst...	ORPHA:1318
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Short stature, Cachexia, Abnormal circulating creatine concentration, Ileu...	ORPHA:52503
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agene...	OMIM:236500
Lymphoid Interstitial Pneumonia	Hepatomegaly, Clubbing, Weight loss, Failure to thrive, Enlarged kidney	ORPHA:79128
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k...	ORPHA:97362
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ...	OMIM:618950
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Thic...	OMIM:220500
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nod...	ORPHA:210548
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Foot polydactyly	ORPHA:2155
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Micropenis, Ab...	ORPHA:1692
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Small for gestational age, Overlapping toe, Postaxial polydactyly, Tape...	OMIM:613792
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Postaxial polydactyly, Tubular luminal dilatation, Renal corticomedullary cy...	OMIM:219730
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Reduced renal corticomedullary dif...	ORPHA:731
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Weaver-Williams Syndrome	Decreased body weight, Cleft palate, Narrow mouth	ORPHA:3448
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, High palate, Wrist fle...	ORPHA:800
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessor...	ORPHA:2919
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypogeusia, Elevated circulating creatinine concentration, Growth delay, Gastroesophageal reflux,...	OMIM:223900
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening of limbs, Synda...	OMIM:146510
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:231111
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn...	ORPHA:1278
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Postnatal growth retardation, Pyloric stenosis, Small h...	ORPHA:96184
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Small for gestational age, Hypospadias, Postnatal growth retardation, Cleft palate, S...	ORPHA:397590
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Rectal prolapse, Long penis, Hyperc...	ORPHA:508
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Short stature, Splenomegaly,...	ORPHA:84064
Ulbright-Hodes Syndrome	High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humeroradial synostosis, Re...	ORPHA:3404
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Postnatal growth retardation, Steatorrhe...	ORPHA:79303
Pallister-Hall-Like Syndrome	Median cleft lip, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Hip disl...	OMIM:241800
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, G...	OMIM:201000
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Idiopathic Bronchiectasis	Clubbing, Cachexia	ORPHA:60033
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Gastrointestinal dysmotility, Abnormal tongue morphology, Downturne...	ORPHA:531151
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Cleft palate, Intrauterine grow...	OMIM:611134
Tarp Syndrome	Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy...	OMIM:311900
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Tuberculosis	Weight loss	ORPHA:3389
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Cleft palate, Slender long bone, Decreased body weight, Vesicoureteral reflux, Hyd...	OMIM:618265
Schisis Association	Renal agenesis, Small for gestational age, Micromelia, Tracheoesophageal fistula, Cleft palate, U...	ORPHA:63862
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono...	OMIM:616217
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnormality of...	ORPHA:90321
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Hypoalbuminemia, Premature loss...	OMIM:610965
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Gastroesophageal reflux, Cleft palate	OMIM:612913
Meckel Syndrome, Type 6	Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, Horseshoe kidney, Postaxia...	OMIM:612284
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy, Tapered finger, Bilateral cleft lip a...	OMIM:618829
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi...	OMIM:603041
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Alg9-Cdg	Villous atrophy, Gastroesophageal reflux, Narrow greater sciatic notch, Bifid uvula, Hepatomegaly...	ORPHA:79328
22Q11.2 Deletion Syndrome	Anorectal anomaly, Gastroesophageal reflux, Hypocalcemia, Short philtrum, Vesicoureteral reflux, ...	ORPHA:567
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Esophageal varix, Renal hypo...	ORPHA:84081
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Ileus, Cachexia, Weight loss	ORPHA:83469
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Aminoaciduria, Glycos...	OMIM:618913
Attrv30M Amyloidosis	Nephropathy, Weight loss, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Hypomagnesemia, Splenomegaly, I...	ORPHA:37042
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Glycogen Storage Disease Iv	Hepatosplenomegaly, Failure to thrive, Esophageal varix, Tubulointerstitial fibrosis	OMIM:232500
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp...	OMIM:206920
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Short metatarsal, 2-3 toe syndactyly, Sym...	ORPHA:1540
C Syndrome	Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Accessory oral frenulum, Micromeli...	OMIM:211750
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Postaxial hand polydactyly, Cle...	ORPHA:2075
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Postaxial polydactyly, Cleft lip, Prea...	OMIM:617925
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Foot polydactyly, Nephroblastoma, Ovarian serous cystadenoma, E...	ORPHA:276280
Pelizaeus-Merzbacher Disease	Short stature, Abnormality of the urinary system, Failure to thrive in infancy, Cachexia	ORPHA:702
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubi...	OMIM:208500
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, High, n...	OMIM:122470
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Ovarian cyst, Short lo...	OMIM:618188
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Rhyns Syndrome	Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short...	OMIM:602152
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/...	ORPHA:3015
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated median tongue f...	OMIM:312870
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Hypospadias, Sandal gap, Postaxial polydactyly, Downtu...	OMIM:615761
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Abnormal oral cavity morphology	ORPHA:42642
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Abnormality of the upper urinary tract, Micromelia, Abnormality...	ORPHA:2145
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,...	ORPHA:1001
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cleft palate, Cleft upper lip	OMIM:120433
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,...	ORPHA:1225
Non-Syndromic Posterior Hypospadias	Small for gestational age, Esophageal atresia, Ventral shortening of foreskin, Cleft palate, Uret...	ORPHA:95706
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ...	ORPHA:3378
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Short philtrum, Intrauterine growth ret...	ORPHA:3305
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Disproportionate...	ORPHA:1856
Braddock Syndrome	Short stature, Unilateral renal agenesis, Preaxial hand polydactyly, Intrauterine growth retardat...	ORPHA:52047
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Cachexia, Short stature, Cone-shaped epiphysis, To...	ORPHA:808
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Large for g...	OMIM:615398
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss, Oral-pharyngeal dysphagia	ORPHA:100083
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia...	ORPHA:1328
Burn-Mckeown Syndrome	Short stature, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, 2-3 to...	OMIM:608572
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia	ORPHA:35125
Ogden Syndrome	Congenital hip dislocation, Cardiomegaly, Deep philtrum, High palate, Short philtrum, Clinodactyl...	OMIM:300855
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, Stage 5 chronic...	OMIM:614099
Rett Syndrome	Short stature, Cachexia, Abnormality of the dentition, Short foot, Gastroesophageal reflux	OMIM:312750
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border...	ORPHA:544254
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Abnormality of the philtrum, Short stature, Renal hypoplasia/aplasia, Non-midline ...	ORPHA:1770
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Single transverse palmar crease, Abnormal me...	ORPHA:79243
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Clinodactyly of ...	ORPHA:1106
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Orofaciodigital Syndrome Type 2	Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Short stature, Ha...	ORPHA:2751
Joubert Syndrome 27	Polydactyly, Thick lower lip vermilion, Dilatation of the renal pelvis	OMIM:617120
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Flynn-Aird Syndrome	Carious teeth, Cachexia	ORPHA:2047
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Short stature, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft ...	OMIM:601076
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ...	ORPHA:439232
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Joubert Syndrome 37	Hepatomegaly, Short stature, Postaxial polydactyly, Obesity, High palate, Micropenis, Hydronephrosis	OMIM:619185
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert...	OMIM:619736
Biemond Syndrome Ii	Preaxial hand polydactyly, Short stature	OMIM:210350
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h...	ORPHA:261344
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Oral-pharyngeal dysphagia, High, narrow palate, Weight l...	ORPHA:98897
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha...	ORPHA:110
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor...	OMIM:120330
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Abnormal ...	ORPHA:3429
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malro...	ORPHA:2059
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Nephronopht...	OMIM:266920
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Renal cyst, Glossoptosis, Clinodactyly of the 5th fi...	ORPHA:2031
Bresek Syndrome	Hypoplasia of the bladder, Aganglionic megacolon, Postaxial hand polydactyly, Renal hypoplasia, C...	ORPHA:85284
Pelger-Huet Anomaly	Abnormality of the dentition, Gingival overgrowth, Upper limb undergrowth, Polydactyly, Short 3rd...	OMIM:169400
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Post...	OMIM:614576
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney, Obesity	OMIM:613464
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab...	ORPHA:2461
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypospadias, Hypoplastic ischia, Intrauterine growth retardation	OMIM:616910
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t...	ORPHA:90650
Caroli Syndrome	Cholangiocarcinoma, Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Hemat...	ORPHA:480520
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoe...	ORPHA:59315
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Short stature, Flat c...	OMIM:147891
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5...	OMIM:239800
Joubert Syndrome 23	Polydactyly	OMIM:616490
Undifferentiated Pleomorphic Sarcoma	Abnormality of the upper limb, Weight loss	ORPHA:2023
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger	OMIM:601355
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Failure to thrive in inf...	ORPHA:313781
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate	OMIM:614120
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ...	OMIM:130650
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia...	OMIM:603671
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand	OMIM:146160
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Large for gestational age, Vesicoureteral reflux, Hepatoblast...	ORPHA:116
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Short Stature-Micrognathia Syndrome	Rhizomelia, Short stature, Broad femoral neck, Bowing of the legs, Coxa valga, Metaphyseal wideni...	OMIM:617164
Orofaciodigital Syndrome Xiv	Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Epispadias, Preax...	OMIM:615948
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Macroglossia, Nephrotic synd...	ORPHA:505248
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal th...	ORPHA:1842
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Neoplasm of the liver	ORPHA:69077
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Trisomy 20P	Finger syndactyly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality o...	ORPHA:261318
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Hepato...	ORPHA:552
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Epiphys...	OMIM:614862
Faciocardiorenal Syndrome	Horseshoe kidney, Cleft palate, Hypodontia, Narrow mouth, Failure to thrive, Smooth philtrum	ORPHA:1973
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu...	OMIM:617063
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Joubert Syndrome 10	Growth delay, Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Yao Syndrome	Nephrolithiasis, Xerostomia, Oral ulcer, Weight loss	OMIM:617321
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren...	OMIM:615560
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Acrofrontofacionasal Dysostosis	Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Short stature, Non-midline cleft...	ORPHA:1784
Joubert Syndrome 14	Tented upper lip vermilion, Postaxial polydactyly, Renal cyst, Cleft palate, Growth delay, Short ...	OMIM:614424
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh...	ORPHA:1507
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Short stature, Metaphyseal chondrodysplas...	OMIM:250410
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Pyloric stenosis, Obesity, Cleft palate, Hand polydactyly, Gastroes...	ORPHA:261197
Marden-Walker Syndrome	Hypospadias, Arachnodactyly, Postnatal growth retardation, High, narrow palate, Pyloric stenosis,...	OMIM:248700
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Nephroblastoma, Polydactyly, Smooth philtrum	OMIM:602501
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of th...	OMIM:268300
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Short statu...	OMIM:257300
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Hyponatremia, Cachexia, Malabsorption, Splenomegaly	ORPHA:3452
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip d...	OMIM:616362
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia, Dysphagia	ORPHA:300605
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Hypertriglyceridemia, Multiple small medull...	OMIM:118450
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger...	OMIM:107480
Carey-Fineman-Ziter Syndrome	Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Aplasia of the pectoralis...	ORPHA:1358
Tarp Syndrome	Finger syndactyly, Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postax...	ORPHA:2886
Kleefstra Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b...	ORPHA:261494
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Esophageal varix, Hyperkalemia,...	ORPHA:275761
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss	ORPHA:654
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Malabsorption, Pyloric st...	ORPHA:912
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil...	OMIM:119800
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Avasc...	OMIM:619377
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate...	ORPHA:109
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Cachexia, Short hard palate, Genu varum	ORPHA:1969
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Congenital Myopathy 17	Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe, Tapered finger, Clinod...	OMIM:618975
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Micropenis, Short stature, Cleft soft palate, Gingival overgrowth, ...	OMIM:616331
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Abnormality of the kidney, Elevated circulating C-reac...	ORPHA:767
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Postnatal growth retardation, Preaxial hand polydactyly, Elevat...	ORPHA:96179
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Cleft ...	OMIM:263750
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cleft palate, Fibula...	OMIM:164745
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Posteriorly placed anus, ...	OMIM:306955
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2070
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi...	OMIM:208085
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Pelvis-Shoulder Dysplasia	Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Apl...	ORPHA:2839
Distal Deletion 15Q	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Short philtru...	ORPHA:1596
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Genitopatellar Syndrome	Delayed eruption of teeth, Short palm, Multicystic kidney dysplasia, Hip contracture, Short statu...	ORPHA:85201
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, Gastroesophageal reflux, High palate, Clinodactyly of the 5...	OMIM:300373
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Single transverse palmar ...	OMIM:247200
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Gastrointestinal dysmotility, 2-3 toe c...	OMIM:270400
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Short stature, Cleft upper lip, Clinodactyly, Cleft palate, Tooth agenesis, Ectrodactyly, Delayed...	OMIM:147950
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Genu valgum, Gastroesophage...	OMIM:619721
Kinsship Syndrome	Single transverse palmar crease, Downturned corners of mouth, Widely spaced teeth, Gastroesophage...	OMIM:619297
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Joubert Syndrome 2	Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, High pal...	OMIM:608091
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Cockayne Syndrome	Urinary incontinence, Gastroesophageal reflux, Hepatomegaly, Abnormal dental morphology, Renal hy...	ORPHA:191
Nijmegen Breakage Syndrome	Anal stenosis, Short stature, Cachexia, Deep philtrum, Anorectal anomaly, Non-midline cleft lip, ...	ORPHA:647
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ...	OMIM:615777
Igg4-Related Aortitis	Intestinal obstruction, Hydronephrosis, Elevated circulating C-reactive protein concentration, We...	ORPHA:449400
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Cleft lip, Micropenis, Cleft palate	OMIM:614838
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Short stature, Postaxial polydactyly, Clinodact...	OMIM:618460
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Small for gestational age, Short stature, Ectopic k...	OMIM:227646
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Single transverse palmar crease, Splenomegaly, Growth delay, Reduced...	OMIM:618541
Johnson Neuroectodermal Syndrome	Severe short stature, Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, E...	ORPHA:2316
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Non-midline cleft lip, Hypoplasia of ...	ORPHA:245
Holzgreve Syndrome	Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Cleft pa...	ORPHA:2167
Teebi-Shaltout Syndrome	Syndactyly, Ureteral stenosis, Ulnar deviation of the hand, Single transverse palmar crease, Rock...	OMIM:272950
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia, Wide mouth, Short foot, Grow...	OMIM:619758
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Dental crowding, Abnormality of the kidney, Postaxial polydact...	OMIM:209900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Smooth philtrum, Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep ph...	ORPHA:404440
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Hepatomegaly, Hamartoma of tongue, Short toe, R...	OMIM:269860
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Preaxial polydactyly, Obesity	ORPHA:163681
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Short stature, Metaphyseal chondrodysplasia, Renal cyst, Horsesh...	ORPHA:166035
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Exaggerated cupid's bow, High, n...	ORPHA:369837
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Cleft palate, Elevated circulating palmitoleylcarni...	ORPHA:79284
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Joubert Syndrome 3	Open mouth, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Primary Myelofibrosis	Splenomegaly, Hepatomegaly, Cachexia, Hepatosplenomegaly	ORPHA:824
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst...	ORPHA:79404
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Failure to thrive, Toe syndactyly, Hypospadias, Small for gestational age, Unilate...	ORPHA:464306
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Erythrokeratodermia Variabilis	Short stature, Tapered finger, Patchy palmoplantar hyperkeratosis, Weight loss, Brachydactyly	ORPHA:317
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas...	ORPHA:230
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Tongue f...	OMIM:614922
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Toe clinodactyly, Bilateral single transverse palmar creases, Sanda...	ORPHA:261349
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Trisomy 10P	Thumb contracture, Small for gestational age, Abnormality of the kidney, Abnormality of the hand,...	ORPHA:171929
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Mosaic Trisomy 9	Hypoplasia of penis, Intestinal malrotation, Micromelia, Rocker bottom foot, Elbow dislocation, C...	ORPHA:99776
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Short stature, Postaxial polydactyly, Abnormality of the dentition, Tapered fing...	OMIM:300968
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney disease, S...	ORPHA:1018
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Cleft upper lip, Open bite, Arachnoda...	ORPHA:828
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Increased density of long bo...	OMIM:305620
Reticular Dysgenesis	Failure to thrive, Weight loss, Malabsorption	ORPHA:33355
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyly, Multicystic kidney d...	ORPHA:2092
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Pseudomyxoma Peritonei	Intestinal obstruction, Weight loss, Inflammation of the large intestine	ORPHA:26790
Acute Myelomonocytic Leukemia	Abnormality of the gingiva, Weight loss	ORPHA:517
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Peptic ulcer, Renal hamartoma, Nephrolithiasis, Renal cyst, D...	ORPHA:143
Culler-Jones Syndrome	Short stature, Postaxial polydactyly, Cleft upper lip, Cleft palate, Micropenis	OMIM:615849
Chronic Hiccup	Weight loss	ORPHA:396
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu...	ORPHA:2710
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Non-midline cleft lip, Orofacial cleft, Cleft palat...	ORPHA:1752
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Small for gestational age, Femoral retroversion, Cleft upper lip, Cleft pal...	OMIM:607371
Infantile Krabbe Disease	Failure to thrive, Gastroesophageal reflux, Shoulder girdle muscle weakness, Cachexia	ORPHA:206436
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of...	ORPHA:857
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Hepa...	OMIM:619488
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Failure to thrive in infancy, Bilateral single tran...	ORPHA:1308
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Foot polydactyly	ORPHA:3004
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in...	ORPHA:199306
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Short stature, Obesity, Cleft palate, Short philtrum, Cubitus valgus, Brachydactyly	ORPHA:247768
Robinow Syndrome	Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dyspla...	ORPHA:97360
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Ob...	ORPHA:251071
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,...	ORPHA:18
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Refractory Celiac Disease	Villous atrophy, Malabsorption, Hypophosphatemia, Weight loss, Protein-losing enteropathy, Hypoca...	ORPHA:398063
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Cystic Echinococcosis	Hepatomegaly, Renal cyst, Weight loss, Ovarian cyst, Membranous nephropathy, Hyperbilirubinemia, ...	ORPHA:400
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Gastroesophageal reflux, Advanced eruption of t...	ORPHA:818
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Radial club hand, Cleft...	ORPHA:2165
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Decreased serum iron, Odyno...	ORPHA:447
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Severe short stature, Arachnodactyly, Rhizomelia, Overla...	ORPHA:3379
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Short stature, Rectal fistula, Absent radi...	OMIM:115470
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Ivic Syndrome	Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th...	ORPHA:2307
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Weight loss, Nephro...	ORPHA:330001
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Elevated 8-dehydrocholesterol, E...	OMIM:302960
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,...	ORPHA:508533
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Short stature, Cleft lip, 2-3 toe cutaneous syndactyly, Renal hypoplasi...	OMIM:618454
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Incr...	ORPHA:85443
Isaacs Syndrome	Weight loss	ORPHA:84142
Holocarboxylase Synthetase Deficiency	Growth delay, Organic aciduria, Hyperammonemia, Weight loss	ORPHA:79242
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Large for gestational age, Bowing of the legs, Long hallux, Renal cyst, Macrog...	OMIM:617107
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Anorectal anomaly, Bilate...	ORPHA:49
Rabson-Mendenhall Syndrome	Enlarged ovaries, Dental crowding, Short stature, Abnormality of the dentition, Long penis, Gingi...	ORPHA:769
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodactyly of the 5...	OMIM:161200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Macrodactyly	Macrodactyly	OMIM:155500
Au-Kline Syndrome	Failure to thrive, Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, De...	OMIM:616580
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly, Hepatosplenomegaly	OMIM:618955
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Axial malrotation of the kidn...	OMIM:274000
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly, Obesity	OMIM:616562
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Short stature, Tapered finger, Preaxial hand polydactyly, Short toe, O...	OMIM:620072
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Cap Polyposis	Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss	ORPHA:160148
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, ...	ORPHA:534
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec...	OMIM:219800
D-Bifunctional Protein Deficiency	Hepatomegaly, Splenomegaly, Split hand, Renal cyst, Hammertoe, High palate, Talipes equinovarus, ...	OMIM:261515
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Micromelia, Esophageal ...	ORPHA:93271
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Proportionate short stature, Weight loss, Vesicoureteral reflux, Intrauteri...	ORPHA:3208
Cranioectodermal Dysplasia 2	Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Hepatomegaly, Syndactyly,...	OMIM:613610
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Hi...	ORPHA:2879
Mend Syndrome	Broad hallux, Overlapping toe, Short stature, Long fingers, 2-3 toe syndactyly, High palate, Poly...	OMIM:300960
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic...	OMIM:617641
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Proteinuria, Steatorrhea, Renal cyst, Ne...	OMIM:212065
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndactyly, Prea...	OMIM:619471
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Duplication of thu...	OMIM:601707
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Fing...	ORPHA:84
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Enlarged kidney, Cardiomegaly	OMIM:261740
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, E...	ORPHA:131
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Short stature, Cleft palate, Glossoptosis, Clinodactyly of the 5th ...	ORPHA:1393
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Short thumb, Cleft palate, Horseshoe kidney, Growth delay, Esophagitis...	OMIM:612562
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Short digit, Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Short stature, Pos...	ORPHA:397715
Proteus Syndrome	Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Cachexia, Macrodactyly, Cari...	ORPHA:744
Leishmaniasis	Hepatomegaly, Abnormal oral mucosa morphology, Splenomegaly, Weight loss, Hypoalbuminemia, Abnorm...	ORPHA:507
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den...	ORPHA:2322
Jacobsen Syndrome	Long hallux, Abnormality of the anus, Broad hallux phalanx, Multicystic kidney dysplasia, Finger ...	ORPHA:2308
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Renal cyst, Elevat...	ORPHA:488618
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, High p...	ORPHA:199
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi...	ORPHA:668
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Deep philtrum, Renal cyst, Wide mouth, Talipes equinovarus, Renal dysplasia, Smoot...	OMIM:617260
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Failure to thrive, Proximal renal tubular acidosis, Postaxial po...	OMIM:615824
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem...	OMIM:600920
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss...	OMIM:213300
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Mandibulofacial Dysostosis, Guion-Almeida Type	Short stature, Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atresia, Deep p...	OMIM:610536
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Opitz Gbbb Syndrome	Smooth philtrum, Thin upper lip vermilion, Hypospadias, Cleft upper lip, Rectourethral fistula, V...	OMIM:300000
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R...	OMIM:270420
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Orofacial cleft, Aplasia/Hypoplasia involving the pelvis, Narrow mo...	ORPHA:3301
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Microsporidiosis	Glossitis, Cachexia, Urethritis, Weight loss, Abnormality of the urinary system physiology, Nephr...	ORPHA:2552
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Genu valgum, Short philt...	OMIM:619142
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, ...	ORPHA:1512
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Hajdu-Cheney Syndrome	Downturned corners of mouth, Periodontitis, Partial absence of toe, Hepatomegaly, Hypospadias, Sh...	ORPHA:955
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylglutaconic aciduria	ORPHA:445038
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Short stature, Cleft lip, Renal cyst, Furrowed tongue, Hip dysplasia, Ga...	OMIM:616975
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Intestinal malrotation, Cleft soft palate, Renal hypoplasia, Genu valgum, Downturn...	OMIM:619321
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
3Mc Syndrome 2	Hypospadias, Limited elbow movement, Cleft upper lip, Postnatal growth retardation, Hip dislocati...	OMIM:265050
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Anorec...	ORPHA:233
Diffuse Alveolar Hemorrhage	Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:54251
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Schinzel-Giedion Syndrome	Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Short...	ORPHA:798
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Failure to th...	OMIM:619487
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Sp...	OMIM:617088
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palm, Thin upper lip vermilion, Hypospadias, Renal agenesis, Broad hallux, Broad phalanx, A...	ORPHA:508498
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino...	ORPHA:373
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Preaxial hand polydactyly, Short stature, Cleft palate	ORPHA:79113
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:601539
Lambotte Syndrome	Preaxial foot polydactyly, Intrauterine growth retardation, Narrow mouth	OMIM:245552
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Intestinal malrotation, 2-3 toe syndactyly, Patent urachus, Micropenis, ...	OMIM:618280
X-Linked Agammaglobulinemia	Short stature, Malabsorption, Weight loss, Glossoptosis, Hypocalcemia, Failure to thrive	ORPHA:47
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Interphalangeal joint erosions, Elevated circulating C...	OMIM:180300
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Broad hallux, Short stat...	OMIM:154400
Myhre Syndrome	Abnormal penis morphology, Short palm, Brachydactyly, Severe short stature, Hypospadias, Epispadi...	ORPHA:2588
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Malabsorption, Hepatocellular carcinoma, Abnormal ci...	ORPHA:440437
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Peptic ulcer, Renal hamartoma, Nephrolithiasis, Renal cyst, D...	ORPHA:99880
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Elevated ...	ORPHA:160
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Hypospadias, Short stature, Small hand, Cleft palate, Short foot, Short...	OMIM:300712
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Gastroesophageal r...	OMIM:194190
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete...	ORPHA:261265
Marfan Syndrome	Dental crowding, Arachnodactyly, Cachexia, Limited elbow movement, Open bite, High, narrow palate...	ORPHA:558
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint morphology, Weig...	ORPHA:324964
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Ureteral stenosis, Hypoplastic scapulae, Coxa valga, Fl...	OMIM:309350
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Weight loss	ORPHA:2221
Neurocardiofaciodigital Syndrome	Syndactyly, Small for gestational age, Short stature, Thin vermilion border, High palate, Polydac...	OMIM:619869
Fatal Familial Insomnia	Weight loss, Urinary retention, Dysphagia	OMIM:600072
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Orofacial cleft, Abnormality of ...	ORPHA:1556
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, Malabsorption, Weight l...	ORPHA:183
Systemic Capillary Leak Syndrome	Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Follicular Lymphoma	Splenomegaly, Weight loss	ORPHA:545
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr...	ORPHA:1896
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Renal insufficiency, Multicystic kidney dysplasia, Splenomegaly, Postaxial hand pol...	ORPHA:1454
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Short stature, Camptodactyly of finger, Splenomegaly, Gingi...	ORPHA:354
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Weight loss	ORPHA:97289
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Non-midline cleft lip, Abnormal tibia morphology, Split hand, Orofac...	ORPHA:1335
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, We...	ORPHA:732
Adnp Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Broad hallux, Urinary incontinence,...	ORPHA:404448
Familial Visceral Myopathy	Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Megacystis, Cleft pa...	ORPHA:2604
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Abnormality of the philtrum, Hypospadias, Abnormality of the kidney, Cle...	ORPHA:280
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Multiple renal cysts, Talipes equinovarus, Re...	OMIM:618733
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ...	ORPHA:90362
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, High, narrow palate, Hepatic hemangioma, High p...	OMIM:180849
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, Aplasia/Hypoplasia ...	ORPHA:564
Malignant Peritoneal Mesothelioma	Ileus, Weight loss	ORPHA:168811
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Short humerus, Short femur, Hypospadias, Orofacial cleft, M...	ORPHA:17
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Short stature, Cleft palate, Growth delay, In...	ORPHA:1052
Solitary Fibrous Tumor	Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urinary retention, Hypophosphatemic ...	ORPHA:2126
Pearson Syndrome	Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Postnatal growth retar...	ORPHA:699
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Congenital Sialidosis Type 2	Hepatomegaly, Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Hepatosplenomega...	ORPHA:93400
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Renal Agenesis, Bilateral	Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno...	ORPHA:1848
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:203800
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis...	OMIM:614083
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Weight loss, Gastrointes...	ORPHA:679
Celiac Disease, Susceptibility To, 1	Short stature, Celiac disease, Postnatal growth retardation, Weight loss, Recurrent aphthous stom...	OMIM:212750
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Enanthema, Weight loss, Tubulointerstitial nephritis, Nephrotic syndrome	ORPHA:139402
Immunodeficiency 96	Growth delay, Multicystic kidney dysplasia	OMIM:619774
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Pancreatic cysts, Renal cyst, Weight loss, Abnormal bladder morp...	ORPHA:284
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper...	ORPHA:2729
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Gastroesophageal reflux, Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Short s...	ORPHA:268261
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T...	ORPHA:1120
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb...	ORPHA:91139
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, Abnorma...	ORPHA:1606
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Cachexia, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Growth delay, Gastri...	ORPHA:2072
Acromelic Frontonasal Dysplasia	Median cleft lip, Patellar hypoplasia, Wide mouth, Talipes equinovarus, Preaxial foot polydactyly...	ORPHA:1827
Acrodermatitis Enteropathica	Short stature, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Weight loss,...	ORPHA:37
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of finger, Aplastic clavicl...	ORPHA:2554
Peters Plus Syndrome	Ureteral duplication, Micromelia, Widely spaced teeth, Clinodactyly of the 5th finger, Renal dupl...	ORPHA:709
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Huntington Disease	Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar...	ORPHA:399
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Short stature, Cleft lip, Cleft palate, Submucous cleft of soft and har...	OMIM:301022
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Gastroesophageal reflux, High palate, Vesicoureteral reflux, Syndactyly, Hypospa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Gastroesophageal reflux, High palate, Vesicoureteral reflux, Syndactyly, Hypospa...	ORPHA:353277
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cardiomegaly, In...	ORPHA:465508
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,...	ORPHA:100078
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Unconjug...	OMIM:613673
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Abnormality of body weig...	ORPHA:2298
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Malabsorption, Intestinal perforation,...	ORPHA:537
Short Syndrome	Severe short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Weight los...	ORPHA:3163
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel...	OMIM:604292
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Postaxial polyda...	OMIM:617527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Downturned corn...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Downturned corn...	ORPHA:352665
Imerslund-Gräsbeck Syndrome	Proteinuria, Angular cheilitis, Weight loss, Failure to thrive, Glossitis	ORPHA:35858
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Acute Promyelocytic Leukemia	Gingival overgrowth, Weight loss, Hematuria, Gingival bleeding, Stomatitis	ORPHA:520
Pallister-Hall Syndrome	Ectopic kidney, Large for gestational age, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial...	ORPHA:672
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short stature, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widen...	OMIM:607944
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Epispadias, Prea...	ORPHA:2211
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Palmar ...	ORPHA:77301
Benign Recurrent Intrahepatic Cholestasis	Acholic stools, Weight loss, Hepatocellular carcinoma	ORPHA:65682
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Hyperkalemia, Weight los...	ORPHA:171876
Tetrasomy 9P	Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5t...	ORPHA:3310
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Cleft palate, Polycystic ovaries, Failure to thrive	ORPHA:137675
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Weight loss	ORPHA:312
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss	ORPHA:514
Pemphigus Vulgaris	Weight loss, Abnormal oral cavity morphology	ORPHA:704
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Pseudo-Torch Syndrome 2	Hepatomegaly, Abnormal renal corticomedullary differentiation	OMIM:617397
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Abnormality of the tongue, Dysphagia	ORPHA:216866
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:391
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium...	ORPHA:95409
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Gapo Syndrome	Hepatomegaly, High, narrow palate, Thick lower lip vermilion, Eruption failure, Growth delay, Lon...	OMIM:230740
Anaplastic Thyroid Carcinoma	Weight loss, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Thymoma	Neoplasm of the gastrointestinal tract, Glomerulonephritis, Ulcerative colitis, Weight loss	ORPHA:99867
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration	ORPHA:444490
Cerebrooculonasal Syndrome	Postaxial polydactyly, Postnatal growth retardation, Postaxial hand polydactyly, Cleft palate, Na...	OMIM:605627
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Short stature, Tapered...	ORPHA:480880
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hyperammonemia, Weight loss, Hyperuricemia	ORPHA:134
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Downturned cor...	ORPHA:99885
Wilson Disease	Hepatomegaly, Abnormality of the hand, Splenomegaly, Increased body weight, Weight loss, Failure ...	ORPHA:905
Oromandibular Dystonia	Abnormal lip morphology, Weight loss, Dysphagia	ORPHA:93958
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal pro...	ORPHA:904
Huntington Disease-Like 1	Abnormal shoulder morphology, Weight loss	ORPHA:157941
Perry Syndrome	Weight loss	ORPHA:178509
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication...	OMIM:236680
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Bladder exstrophy	OMIM:217100
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma	OMIM:191100
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Weight loss, Tongue pain, Abnormal palate morphology	ORPHA:221098
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra...	OMIM:304120
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Weight loss, ...	ORPHA:361
Branchiooculofacial Syndrome	Postnatal growth retardation, Hypospadias, Renal agenesis, Single transverse palmar crease, Cleft...	OMIM:113620
Fraser Syndrome	Finger syndactyly, Anal stenosis, Hypoplasia of penis, Dental crowding, Multicystic kidney dyspla...	ORPHA:2052
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of...	ORPHA:1501
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Oral ...	OMIM:301074
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:90003
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Giant Cell Arteritis	Renal insufficiency, Weight loss, Hematuria, Gastrointestinal infarctions, Glossitis	ORPHA:397
Takayasu Arteritis	Gastrointestinal infarctions, Weight loss	ORPHA:3287
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hypoplastic philtrum	OMIM:620047
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:33276
Immunodeficiency 31C	Hepatomegaly, Villous atrophy, Short stature, Splenomegaly, Weight loss, Gastrointestinal eosinop...	OMIM:614162
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal...	ORPHA:36426
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Congenit...	OMIM:606170
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hepatosplenomegaly, Weight loss, Malabsorption	ORPHA:98850
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Hepatic hemangioma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cleft upper lip, Split hand, Clubbing, Cleft palate, Growth delay, Micropenis	OMIM:600460
Pyomyositis	Renal insufficiency, Weight loss	ORPHA:764
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Renal cell ...	OMIM:613254
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Intestinal obstruction, Ureteral stenosis, Renal ins...	ORPHA:900
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Gastrointestinal dysmotility, Weight loss, Hypoalbuminemia, Acute colitis	ORPHA:67
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Weight loss, Neoplasm of the re...	ORPHA:144
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Weight loss, Elevated carcino...	ORPHA:100085
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hamarto...	OMIM:109400
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Weight loss, Abnormal epiphysis morphology, Abnormal metaphysis mor...	ORPHA:35687
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u...	ORPHA:913
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, H...	ORPHA:60025
Legius Syndrome	Short stature, Nephrolithiasis, Desmoid tumors, Diaphyseal dysplasia, Male urethral meatus stenos...	ORPHA:137605
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Deep philtrum, Tented upper lip vermilion, High palate	ORPHA:314655
Mowat-Wilson Syndrome	Dental crowding, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Calcaneov...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Short philtru...	ORPHA:261537
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:3226
Addison Disease	Hyponatremia, Hypercalcemia, Renal salt wasting, Celiac disease, Decreased urinary potassium, Hyp...	ORPHA:85138
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Chand Syndrome	Hydroureter, Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre...	ORPHA:1401
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Weight loss, Hyperuricemia, Failure to...	ORPHA:199299
Felty Syndrome	Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Weight loss	ORPHA:47612
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morphology, Malabsorptio...	ORPHA:79430
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Clinodactyly of th...	ORPHA:457284
Klatskin Tumor	Cholangiocarcinoma, Weight loss, Hepatomegaly	ORPHA:99978
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Ketonuria, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Hyperuricemia	ORPHA:20
Thymic Carcinoma	Weight loss	ORPHA:99868
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Renal insufficiency, Hepatomegaly, Hepatocellular carcinoma, Celiac disease, ...	ORPHA:171
Choanal Atresia	Polydactyly	ORPHA:137914
Bullous Pemphigoid	Weight loss	ORPHA:703
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Functional intestinal obstruction, Hepatosplenomegaly, Weight loss...	ORPHA:1333
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Mild postnatal growth retardation, Abnormal metata...	ORPHA:85408
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Clubbing, Weight loss	ORPHA:747
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Gastroesophageal reflux, Hypoalbuminemia, Hepatomegaly, Syndactyly...	OMIM:619534
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Renal cy...	OMIM:601803
Chronic Beryllium Disease	Weight loss	ORPHA:133
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia	OMIM:615636
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Weight loss, Gingival bleeding	ORPHA:729
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Tented philtrum, Renal cyst, Anteriorly placed anus, Gastroesophageal reflux, Long p...	ORPHA:495875
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Hereditary Late-Onset Parkinson Disease	Weight loss, Spastic/hyperactive bladder, Dysphagia	ORPHA:411602
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Short philtru...	ORPHA:261552
Medullary Thyroid Carcinoma	Weight loss, Dysphagia	ORPHA:1332
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:33577
Postinfectious Vasculitis	Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria...	ORPHA:48435
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Mucolipidosis Type Ii	Hip contracture, Short stature, Limited wrist movement, Postnatal growth retardation, Splenomegal...	ORPHA:576
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Sple...	OMIM:615846
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hepatosplenomegaly	ORPHA:86884
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Neuroendocrine Tumor Of The Colon	Melena, Hepatomegaly, Weight loss	ORPHA:100080
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Faciocardiomelic Syndrome	Large for gestational age, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypop...	OMIM:612731
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Congenital hip dislocation, Dental crowding, Elbo...	ORPHA:2020
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss	ORPHA:75566
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hepatomegaly, Weight loss, Melena	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hepatomegaly, Weight loss, Melena	ORPHA:100082
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena...	OMIM:308205
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia	ORPHA:75565
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy...	ORPHA:538
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol...	ORPHA:77293
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, Ab...	ORPHA:97280
Vipoma	Hepatomegaly, Hypercalcemia, Malabsorption, Weight loss, Hematochezia, Neoplasm of the liver, Hyp...	ORPHA:97282
Poems Syndrome	Metaphyseal sclerosis, Clubbing of fingers, Visceromegaly, Weight loss	ORPHA:2905
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, Zo...	ORPHA:97261
Reactive Arthritis	Recurrent urinary tract infections, Inflammation of the large intestine, Recurrent aphthous stoma...	ORPHA:29207
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Malabsorption, Splenomegaly, Or...	ORPHA:117
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, In...	ORPHA:97278
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Perry Syndrome	Weight loss	OMIM:168605
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Scapular winging, Intestinal pseudo-obstruction, Weight loss, Dysphagia, Mildly elevated creatine...	OMIM:607459
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Splenomegaly, Clubbing, Hypercalciuria, Weight loss, Inflammation of the large inte...	OMIM:181000
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Small for gestational age, Glomeruloneph...	ORPHA:1304
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Peripheral Primitive Neuroectodermal Tumor	Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Weigh...	ORPHA:370348
Riddle Syndrome	Weight loss, Short stature, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna	ORPHA:420741
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Weight loss, St...	ORPHA:97283
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Hepatomegaly, Peptic ulcer, Weight loss	ORPHA:98849
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration...	OMIM:619381
Norrie Disease	Failure to thrive, Thin vermilion border, Cachexia, Delayed puberty	ORPHA:649
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Elevated circulating creatine kinase concentration, Elev...	ORPHA:93672
Q Fever	Hepatomegaly, Splenomegaly, Weight loss, Hematuria, Hepatosplenomegaly	ORPHA:781
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Hypercalcemia, Hematemesis, Gingival fibromatosis, Nephrolithiasis,...	ORPHA:652
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Weight loss, Hematuria,...	ORPHA:99921
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Weight loss, Enlargement of parotid gland, Tubulointerstitial nephritis, Abnormal sal...	ORPHA:79078
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Hematemesis, Weight loss, Melena, Zollinger-Ellison syndrome	ORPHA:100075
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epine...	ORPHA:90794
Pagod Syndrome	Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia	ORPHA:991
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Colitis, Growth delay, Steatorrhea	ORPHA:309031
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:164310
Pneumocystosis	Weight loss	ORPHA:723
Bronchial Neuroendocrine Tumor	Hepatomegaly, Weight loss	ORPHA:97287
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co...	OMIM:615287
Sarcoidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Renal insufficiency, Hypercalcemia, Neph...	ORPHA:797
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio...	ORPHA:189427
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Post...	OMIM:610168
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft upper lip, Partial duplicatio...	OMIM:164210
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated circulating C-reactive protein ...	ORPHA:50918
Granulomatosis With Polyangiitis	Oral ulcer, Weight loss	OMIM:608710
Familial Thrombocytosis	Splenomegaly, Weight loss	ORPHA:71493
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Weight loss	ORPHA:100086
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Rat-Bite Fever	Parotitis, Weight loss	ORPHA:31205
Pmm2-Cdg	Thin upper lip vermilion, Proteinuria, Long fingers, Reduced thyroxin-binding globulin, Wide mout...	ORPHA:79318
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Growth delay, Polydactyly, Delayed puberty, Abnormal digit morphology, Median...	ORPHA:95494
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Neoplasm of the stomac...	ORPHA:99889
Tropical Pancreatitis	Weight loss	ORPHA:103918
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Delayed puberty, Weight loss	ORPHA:91347
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Protruding tongue, Splenomegaly...	ORPHA:2388
Malt Lymphoma	Weight loss	ORPHA:52417
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Hepatosplenomegaly, Weight...	ORPHA:3385
Dermatomyositis	Gastrointestinal stroma tumor, Weight loss	ORPHA:221
Nocardiosis	Weight loss	ORPHA:31204
Alström Syndrome	Hyperlipidemia, Hypertriglyceridemia	ORPHA:64
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.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Tissue-specific requirement of sodium channel and clathrin linker 1 (Sclt1) for ciliogenesis during limb development.	Frontiers in cell and developmental biology (November 2022)	Sclt1^{tm1a(EUCOMM)Hmgu} Sclt1^{tm1b(EUCOMM)Hmgu}	PMC9669486

Order Mouse and ES Cells

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

Eye Morphology

X-ray

Gross Pathology and Tissue Collection

X-ray

X-ray

MicroCT E18.5

Gross Morphology Embryo E18.5

X-ray

Electrocardiogram (ECG)

Human diseases caused by Sclt1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data