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Gene: Pdss2 MGI:1918615

Gene Summary

Name:

prenyl (solanesyl) diphosphate synthase, subunit 2

Synonyms:

PLMP, 5430420P03Rik, kd, mDLP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
vertebral fusion	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.03×10^-06
decreased anxiety-related response	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.39×10^-05
increased circulating bilirubin level	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.65×10^-05
abnormal tooth morphology	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.77×10^-09
thrombocytopenia	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.28×10^-06
preweaning lethality, complete penetrance	Pdss2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
embryonic lethality prior to tooth bud stage	Pdss2^{tm1b(EUCOMM)Hmgu}	HOM	E12.5	0.00
increased total body fat amount	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.47×10^-06
embryonic lethality prior to organogenesis	Pdss2^{tm1b(EUCOMM)Hmgu}	HOM	E9.5	0.00
decreased thigmotaxis	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.10×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	50% (1 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	50% (1 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	heterozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	heterozygote	50% (1 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	50% (1 of 2)
Tail	N/A	heterozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images

Echo

M-Mode Images

32 Images

View images

Embryo LacZ

LacZ images wholemount

3 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Pdss2 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 Pdss2 (1 diseases)
Human diseases predicted to be associated with Pdss2 (1881 diseases)

The table below shows human diseases associated to Pdss2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Coenzyme Q10 Deficiency, Primary, 3		Nephrotic syndrome, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652

The table below shows human diseases predicted to be associated to Pdss2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl...	OMIM:614455
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Decreas...	OMIM:255100
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Red-brow...	ORPHA:228302
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Rhabdomyolysis, Red-brown urine, Stage 5 chro...	ORPHA:157
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Elevated circulating creatine kinas...	ORPHA:368
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Bronchiec...	OMIM:619468
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Edinburgh Malformation Syndrome	U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia, Accelerated skeletal maturation	OMIM:129850
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Central Diabetes Insipidus	Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia	ORPHA:178029
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, ...	OMIM:232600
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita...	ORPHA:2260
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial amyloid deposits...	ORPHA:85450
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Decreased body weight, Abnor...	OMIM:618347
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios...	ORPHA:3319
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Facial hypoton...	OMIM:617595
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity	OMIM:616629
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre...	OMIM:615993
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Rhabdomyolysis, Red-brown urine, Myopathy, De...	ORPHA:228305
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Radioulnar synostosis	ORPHA:71289
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration, Skelet...	ORPHA:98895
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Myopathy, Aminoaciduria, Nephropathy...	ORPHA:213
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, R...	ORPHA:228308
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Apparent Mineralocorticoid Excess	Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal...	ORPHA:320
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo...	ORPHA:99845
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Polyuria	OMIM:222100
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Decreased activity o...	OMIM:616239
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru...	OMIM:620010
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Increased body weight	ORPHA:94086
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint...	ORPHA:488627
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res...	ORPHA:183
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ...	OMIM:619428
Mitochondrial Myopathy With Diabetes	Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Decre...	OMIM:500002
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Ragged-...	OMIM:607426
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Glycogen Storage Disease X	Renal insufficiency, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy...	OMIM:261670
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Hereditary Coproporphyria	Dark urine, Proximal muscle weakness in upper limbs, Porphyrinuria, Increased urinary porphobilin...	ORPHA:79273
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Failure to thrive	OMIM:230400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria	OMIM:619063
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Increased circulating renin ...	ORPHA:199343
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Hypospadias, Elevated circulating creatine kinase concentration, Fac...	OMIM:301830
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co...	OMIM:609560
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Bardet-Biedl Syndrome 9	Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia	OMIM:615986
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Abnormal mitochondrial morphology, Urinary urgency, Upper limb muscle w...	ORPHA:99013
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria, Myopathy	ORPHA:79087
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Ragged-red mu...	ORPHA:352447
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath...	ORPHA:352470
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short neck,...	ORPHA:915
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulo...	ORPHA:139402
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst, Obesity	OMIM:615982
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephritis, Failure to ...	OMIM:251000
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Elevated circulating creat...	OMIM:158810
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of...	OMIM:113000
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Increased urinary porpho...	ORPHA:100924
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Failure to thrive	OMIM:614582
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Hypophosphatasia, Childhood	Myopathy, Elevated urine pyrophosphate, Phosphoethanolaminuria	OMIM:241510
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor...	OMIM:606612
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy, Failure to thrive, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine	ORPHA:26792
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria...	ORPHA:18
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Attention deficit hyperactivit...	ORPHA:459061
Lead Poisoning	Small for gestational age, Skin rash, Anorexia, Chronic kidney disease, Oligozoospermia, Renal tu...	ORPHA:330015
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Weight loss	ORPHA:95626
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Harderoporphyria	Increased urinary porphobilinogen, Red urine, Increased urine harderoporphyrin level	OMIM:618892
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Failure to thrive, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive, Megacystis, Polyuria	OMIM:304800
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Chilblains, Acute pancreati...	OMIM:619487
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Ab...	ORPHA:399081
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal iron deposi...	OMIM:255125
Oligodontia	Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc...	ORPHA:567546
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Wt Limb-Blood Syndrome	Pancytopenia, Micrognathia, Retrognathia, Radioulnar synostosis, Joint contracture of the 5th fin...	OMIM:194350
Nemaline Myopathy 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl...	OMIM:609273
Nonaka Myopathy	Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti...	OMIM:605820
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Inguinal hernia, Elbow contracture, Multiple pterygia, Short n...	OMIM:178110
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Osteoporosis, M...	OMIM:614727
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Failure to thrive, Renal cyst	ORPHA:79303
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Cachexia, Pneumonia, Ost...	ORPHA:37042
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Aminoaciduria, Proximal tu...	OMIM:612075
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati...	ORPHA:178464
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho...	ORPHA:2332
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
X-Linked Immunoneurologic Disorder	Myopathy, Functional abnormality of the bladder	ORPHA:2571
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Delayed skeletal maturation, Neonatal hyperbilirubinemia, Abnormality of the dentition	ORPHA:3363
Hemolytic Anemia, Congenital, X-Linked	Dark urine	OMIM:301015
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration...	ORPHA:424107
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Enuresis, Hypocalciuria, Increas...	OMIM:263800
Fanconi Anemia, Complementation Group O	Chromosome breakage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Small thenar emi...	OMIM:613390
Hartnup Disease	Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria	ORPHA:2116
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph...	OMIM:609200
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat...	OMIM:618363
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal palate morphology, Aggressive be...	ORPHA:208441
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Hyperbiliverdinemia	Green urine	OMIM:614156
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-mo...	OMIM:219800
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte...	OMIM:244600
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Oral ulcer, Irritability, Leukopenia, Neutropenia, Thromb...	OMIM:229050
Dubin-Johnson Syndrome	Abnormal urinary color	ORPHA:234
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Impulsivity, Aggressive behavior, Hypoplasia of the maxi...	ORPHA:293939
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Dystonia-Aphonia Syndrome	Macroglossia, Abnormal urinary odor, Abnormal mitochondrial shape, Dysphagia	ORPHA:412217
Sengers Syndrome	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ...	OMIM:212350
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy...	ORPHA:3467
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, El...	ORPHA:90291
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy, Decreased activity of mitochondrial respiratory chain	OMIM:613076
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Skin rash	ORPHA:90036
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia, Failure to th...	OMIM:239200
Diaphanospondylodysostosis	Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ...	ORPHA:66637
Cold Agglutinin Disease	Abnormal urinary color	ORPHA:56425
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Macroglossia, Albuminuria, Aminoaciduria, Dysphagia, Failure to thri...	OMIM:214100
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve...	OMIM:214300
Alstrom Syndrome	Renal insufficiency, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis,...	OMIM:203800
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron...	ORPHA:90650
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Increased circulating renin ...	OMIM:612780
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra...	ORPHA:206599
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color	ORPHA:90037
Graft Versus Host Disease	Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow movement, Trismus, Oral ulcer, Lim...	ORPHA:39812
Gitelman Syndrome	Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Rhabdomyolysis, Gou...	ORPHA:358
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm...	OMIM:609524
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Hijazi-Reis Syndrome	Ankle clonus, Abnormal repetitive mannerisms, Hyperbilirubinemia	OMIM:301094
Joubert Syndrome 20	Self-mutilation, Renal cyst, Aggressive behavior	OMIM:614970
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cys...	ORPHA:143
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Acute Intermittent Porphyria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Restlessness, Dysuria, ...	ORPHA:79276
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Axial Osteomalacia	Myopathy, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Elevated ...	ORPHA:42
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Mitochondrial Complex I Deficiency, Nuclear Type 25	Decreased activity of mitochondrial complex I, Nemaline bodies, Failure to thrive, Myopathy	OMIM:618246
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Cleft palate, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, ...	OMIM:616738
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polydipsia, Polyuria, Decreased circulating renin level	OMIM:613677
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoaciduria, ...	ORPHA:91500
Lysinuric Protein Intolerance	Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial...	ORPHA:470
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,...	OMIM:616549
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Scolio...	ORPHA:2345
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat...	OMIM:616471
Juvenile Nephropathic Cystinosis	Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas...	ORPHA:411634
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Myoglobinuria, EMG: myopathic abnormaliti...	ORPHA:57
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Medu...	OMIM:143880
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ...	ORPHA:266
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration	OMIM:609500
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Oliguria, Acute tubul...	ORPHA:340
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Aicardi-Goutieres Syndrome 5	Arthropathy, Irritability, Flexion contracture, Thrombocytopenia	OMIM:612952
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w...	ORPHA:171442
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Oli...	OMIM:601216
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir...	ORPHA:119
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Lamb-Shaffer Syndrome	Hyperactivity, Micrognathia, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion border,...	ORPHA:530983
Isolated Polycystic Liver Disease	Back pain, Increased total bilirubin	ORPHA:2924
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
Mitochondrial Complex I Deficiency, Nuclear Type 15	Decreased activity of mitochondrial complex I, Myopathy, Failure to thrive, Flexion contracture	OMIM:618237
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Rhabdomyolys...	ORPHA:90068
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Carious teeth, Hemivertebrae, Vertebral wedging, Scoliosis	ORPHA:377
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ...	OMIM:167320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Short neck, Hemivertebrae, Hip dislocat...	OMIM:615583
Inclusion Body Myositis	Inflammatory myopathy, Dysphagia, Rimmed vacuoles	OMIM:147421
Renal Hypoplasia, Bilateral	Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease...	ORPHA:97362
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota...	OMIM:241200
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De...	OMIM:500013
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Abnormality of mitochondrial metabolism, Nephrotic syndrome, Nephrop...	ORPHA:1192
Leber Hereditary Optic Neuropathy	Myopathy, Mitochondrial respiratory chain defects	ORPHA:104
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia	ORPHA:517
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Polydipsia, Hypercalciuria	ORPHA:251274
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulonephritis, Sta...	ORPHA:1830
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Nephrolithiasis	ORPHA:369929
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Renal insufficiency, Rhabdomyolysis, Exercise-induced myoglobinuria	OMIM:300653
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I...	OMIM:611705
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Recurrent pneumonia, Flexion contracture, Nephrotic syndrome, Focal segmental glomer...	OMIM:617303
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cys...	ORPHA:99880
Atelis Syndrome 1	Carious teeth, Thrombocytopenia, Lumbar kyphosis, Leukopenia, High palate, Attention deficit hype...	OMIM:620184
Infantile Sialic Acid Storage Disease	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, Gingival overgro...	OMIM:269920
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ...	ORPHA:2522
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy, Dysphagia	OMIM:618323
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes...	ORPHA:352479
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Cam...	OMIM:617729
Aicardi-Goutieres Syndrome 6	Splenomegaly, Irritability, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Hypoplasia of penis, Polydipsia, Obesity	ORPHA:3157
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg...	ORPHA:276435
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Koolen-De Vries Syndrome	Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the dentition, Kyphosis, High...	ORPHA:96169
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Scoliosis, Camptodactyly, Dysphagia	OMIM:619751
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Glutamate-Cysteine Ligase Deficiency	Myopathy, Aminoaciduria	ORPHA:33574
Forsythe-Wakeling Syndrome	Delayed skeletal maturation, Osteoporosis, Thrombocytopenia	OMIM:613606
Glycogen Storage Disease Ia	Decreased muscle mass, Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, De...	OMIM:232200
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color	ORPHA:90033
Helix Syndrome	Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia	OMIM:617671
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio...	OMIM:300559
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Failu...	OMIM:619858
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con...	OMIM:620386
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi...	ORPHA:93315
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentr...	OMIM:612933
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, ...	ORPHA:1166
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Pneumonia, Skin rash, Weakness of facial musculature, Glomerular sclerosis, Nephropathy	ORPHA:247691
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Polydipsia, Increased urinary potassium	ORPHA:231580
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Macroglossia, Umbilical hernia, Neonatal hyperb...	ORPHA:95717
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo...	OMIM:259720
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Small for gestational age, Bilateral cryptorchidism, Stage 5 ch...	OMIM:242900
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Failure to thrive, Abnormality of the mitochondrion	ORPHA:91130
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Arthritis, Myopathy, Dysphagia, Increased variability in mu...	ORPHA:397744
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Polydipsia, Hydronephrosis	ORPHA:35687
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens...	ORPHA:848
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number, Methylmalonic acid...	OMIM:615578
Amyloidosis, Familial Visceral	Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco...	OMIM:613404
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctivitis, Dysphagia,...	ORPHA:537
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Micrognathia, Osteoa...	OMIM:618000
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Elbow flexion contracture, Hamstring contrac...	ORPHA:97244
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Hyperactivity, Micrognathia, Delayed skeletal maturation, Osteoporosis...	ORPHA:73272
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Inguinal hernia, Dental crowding, Short neck, Micrognathia, Ky...	OMIM:130720
Intermediate Uveitis	Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis	ORPHA:279914
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ...	ORPHA:99885
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria, Decreased activity of mito...	OMIM:124000
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra...	ORPHA:1878
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anorexia, Thromboc...	ORPHA:507
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc...	OMIM:612937
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Amel...	OMIM:612529
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontinence, Fatty ...	ORPHA:329478
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Hernia, Hiatus hernia	ORPHA:101009
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh...	OMIM:300580
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck,...	OMIM:272460
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Myopathy, Renal dysplasia	OMIM:614922
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Familial Cold Urticaria	Arthritis, Polydipsia, Conjunctivitis	ORPHA:47045
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Dysphagi...	OMIM:603034
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I...	OMIM:617713
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske...	OMIM:614321
Adrenomyodystrophy	Myopathy, Failure to thrive, Abnormality of the urinary system, Megacystis	ORPHA:977
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Rapidly Involuting Congenital Hemangioma	Avascular necrosis, Lipoatrophy, Thrombocytopenia	ORPHA:141184
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Dysphagia, EMG: myopathic abn...	OMIM:609284
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:618129
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, EMG: myopathic abnormalities, Myopathy, Decreased circulating carnitine co...	ORPHA:99901
Babesiosis	Hemolytic anemia, Anorexia, Splenomegaly, Limitation of joint mobility, Depression, Leukopenia, T...	ORPHA:108
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta	OMIM:615887
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Increased circu...	OMIM:603553
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Mitochondrial Complex I Deficiency, Nuclear Type 21	Decreased activity of mitochondrial complex I, Myopathy, Ragged-red muscle fibers	OMIM:618242
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Melas	Proteinuria, Ragged-red muscle fibers, Focal segmental glomerulosclerosis, Myopathy, Proximal tub...	ORPHA:550
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Myopathy, Reduced musc...	OMIM:212140
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300695
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Obesity, Attentio...	ORPHA:261222
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-induced behavior, Irr...	ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Lumbar hyperlordosis, Pica, Downturned corners of mouth, Irritability, Lumbar scol...	OMIM:617796
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Myopathy, Abnormality of the urinary system, Nephrop...	ORPHA:3463
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentr...	ORPHA:2364
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Ankle clonus, Neutropenia, Hypopla...	OMIM:159550
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis	ORPHA:375
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Whipple Disease	Myositis, Pericarditis, Cachexia, Anorexia, Myocarditis, Uveitis, Arthritis, Polydipsia, Infectio...	ORPHA:3452
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammation of the large...	OMIM:232220
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Irritability, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Bachmann-Bupp Syndrome	Thin upper lip vermilion, Aggressive behavior, High palate, Hyperbilirubinemia, Attention deficit...	OMIM:619075
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w...	ORPHA:254886
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L...	ORPHA:86812
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Conical tooth, Anemia, Neutropenia, Tooth malpos...	OMIM:617475
Mitochondrial Complex I Deficiency, Nuclear Type 11	Decreased activity of mitochondrial complex I, Myopathy, Failure to thrive	OMIM:618234
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Micrognathia, Delayed skeletal matura...	OMIM:614857
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Mantle Cell Lymphoma	Anorexia, Weight loss	ORPHA:52416
Idiopathic Achalasia	Recurrent aspiration pneumonia, Dysphagia, Weight loss	ORPHA:930
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Recurrent pneumon...	ORPHA:254875
Central Core Disease	Multiple joint contractures, Elevated circulating creatine kinase concentration, Myopathy, Abnorm...	ORPHA:597
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop...	ORPHA:77297
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Decreased activity of mitochondrial complex...	ORPHA:506
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase concentration	OMIM:610717
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot...	OMIM:251300
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Elevated circulating creatine kinase con...	OMIM:619743
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta	OMIM:104510
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl...	OMIM:608810
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Congenital Myopathy 10A, Severe Variant	Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Increa...	OMIM:614399
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Distal amyotrophy, Skeletal myopa...	ORPHA:3208
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Bone pain, Oral ulcer, Gingivit...	ORPHA:2686
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Periodontitis, Hydronephrosis, Obesity	OMIM:619269
Pediatric-Onset Graves Disease	Episcleritis, Hyperactivity, Keratitis, Polydipsia, Failure to thrive, Polyphagia	ORPHA:525731
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Acute pancreatitis, Scapular winging, Elevated circulating creatine kina...	ORPHA:26791
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele...	OMIM:620249
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute rhabdomyolysis, Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase co...	OMIM:268200
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy, Dysphagia	OMIM:605809
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Tyrosinemia, Type I	Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Failure to t...	OMIM:276700
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Rhabdomyolysis, My...	OMIM:609015
Attrv30M Amyloidosis	Nephropathy, Abnormal renal physiology, Weight loss	ORPHA:85447
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k...	ORPHA:289390
Dystonia 31	Abnormal posturing, Dysphagia	OMIM:619565
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex congenita, Renal dysplasia	OMIM:236500
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Gingiva...	OMIM:231200
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Oral ulcer, Polyarticular arthritis, Lymphopenia, Thrombocytopenia	OMIM:616744
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Lathosterolosis	Thick upper lip vermilion, Increased mean platelet volume, Lumbosacral meningocele, Acanthocytosi...	OMIM:607330
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, Kyphosis, Oste...	ORPHA:77259
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Elevated circulating creatine kinase concentration, Myopathy, Shoulder girdle muscle weakness, Ge...	OMIM:615156
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia, Thrombocytopenia	OMIM:619981
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Free Sialic Acid Storage Disease	Nephrotic syndrome, Aplasia/Hypoplasia of the abdominal wall musculature, Proteinuria, Failure to...	ORPHA:834
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop...	OMIM:616924
Pelger-Huet Anomaly	Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi...	OMIM:169400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:300179
Mitochondrial Complex I Deficiency, Nuclear Type 14	Decreased activity of mitochondrial complex I, Myopathy	OMIM:618236
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio...	ORPHA:97240
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Macroglossia, Polydipsia, Long penis	ORPHA:769
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Camptodactyly, Cervical C2...	OMIM:617333
Barth Syndrome	Skeletal myopathy, Failure to thrive, 3-Methylglutaconic aciduria, Abnormal mitochondrial morphology	OMIM:302060
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta...	OMIM:118100
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia	ORPHA:157973
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620138
Panhypophysitis	Polydipsia, Hyposthenuria, Hashimoto thyroiditis	ORPHA:95513
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Caudal Regression Syndrome	Impulsivity, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplastic vert...	ORPHA:3027
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra...	OMIM:613686
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Hyperactivity, Sacral dimple, Impulsivity, Cleft upper...	OMIM:610443
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita, Dysphagia	OMIM:201550
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Macroglossia, Umbilical hernia, Abnormal circul...	ORPHA:95716
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl...	OMIM:314300
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope...	OMIM:259700
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Weight loss, ...	OMIM:613662
Myotubular Myopathy With Abnormal Genital Development	Hypospadias, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bilateral cry...	OMIM:300219
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he...	OMIM:268310
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Generalized w...	ORPHA:353327
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Transketolase Deficiency	Increased level of ribose in urine, Seborrheic dermatitis, Uveitis, Renal cyst, Self-injurious be...	ORPHA:488618
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Cholangitis, Pancreatic cysts, Recurrent...	ORPHA:731
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Depression	OMIM:231000
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality...	ORPHA:53
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis	ORPHA:1445
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia, Hiatus hernia	OMIM:609727
Isolated Biliary Atresia	Severe failure to thrive, Failure to thrive, Small for gestational age, Dark yellow urine	ORPHA:30391
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis	OMIM:607944
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs	ORPHA:3327
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Proteinuria, Abnormality of the kidney	ORPHA:369
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Nemaline Myopathy 8	Facial palsy, Flexion contracture, Dysphagia, Myofibrillar myopathy, Nemaline bodies	OMIM:615348
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:619566
Isolated Agammaglobulinemia	Sinusitis, Abnormality of neutrophils, Thrombocytopenia, Arthritis, Cellulitis, Abnormal lymphocy...	ORPHA:229717
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Central...	ORPHA:169189
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Calf...	OMIM:611307
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Hyperlordosis, Pierre-Robin sequence, Cleft palate, Thick vermilion...	OMIM:619980
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, Nephrocalcinosi...	ORPHA:79259
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth...	OMIM:617321
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Inguinal hernia, Cranio...	OMIM:213980
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy...	ORPHA:2596
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Otopalatodigital Syndrome Type 2	Omphalocele, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Microgna...	ORPHA:90652
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Polyphagia...	ORPHA:251004
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Myop...	OMIM:602541
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor...	ORPHA:171445
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia	ORPHA:2774
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-reactive protein co...	OMIM:613011
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Wilson Disease	Back pain, Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Bone pain, Depres...	ORPHA:905
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c...	ORPHA:1724
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Elevated circulating creatine kin...	ORPHA:206569
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:310300
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Rhabdoid Tumor	Irritability, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Dysphagia, Arthrogryposis m...	OMIM:161800
Mirizzi Syndrome	Dark urine, Pancreatitis, Anorexia	ORPHA:521219
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi...	ORPHA:486815
Familial Isolated Dilated Cardiomyopathy	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Weight loss, Membranous nephropathy, Ovarian cyst, Ab...	ORPHA:400
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D...	ORPHA:49041
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Anemia	ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 29	Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria, Decreased activity of mitochon...	OMIM:618250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Hyperactivity, Congenital hip dislocation, Aplastic anemia, Pancytopenia,...	OMIM:617052
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Cleft upper lip, Elbow dislocation, Dislocated...	OMIM:150250
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia, Methylmalo...	ORPHA:1933
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Rhabd...	OMIM:251900
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Dental crowding,...	ORPHA:2457
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia, Hyperbilirubinemia	OMIM:609734
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Chronic pancreatitis, Gout, Hematuria, Focal segmental glomerul...	OMIM:232240
Chronic Hiccup	Abnormal eating behavior, Abnormality of the diaphragm, Weight loss	ORPHA:396
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesi...	ORPHA:110
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:98855
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Lactic...	OMIM:615595
Familial Isolated Hypoparathyroidism	Nephropathy, Myopathy	ORPHA:2238
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG...	OMIM:608423
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbumi...	OMIM:226990
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoaciduria, Glyco...	OMIM:616026
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Sarcoidosis	Renal insufficiency, Maculopapular exanthema, Facial palsy, Erythema nodosum, Nephrolithiasis, Hy...	ORPHA:797
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Depression, Anterior open-bite malocclusion, Thrombocytopenia	ORPHA:83601
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Pycnodysostosis	Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ...	OMIM:265800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Abnormal mitochondrial shape, Hypospadias, Aggressive behavior, Decrease...	ORPHA:17
Actinic Prurigo	Glomerulonephritis	OMIM:174770
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Joint contracture of the hand, Aminoaciduria, Abnormality of the mitochondrion, P...	OMIM:214110
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Micrognathia	OMIM:188025
Tuberculosis	Weight loss	ORPHA:3389
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Thrombocytopenia, Micrognathia	OMIM:208085
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Proximal tubulopathy, Renal cyst	OMIM:602579
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Prominence of the premaxilla, Hyperbili...	OMIM:614886
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst, Camptodactyly	OMIM:614175
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:246400
Aggressive Systemic Mastocytosis	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Bone pain, O...	ORPHA:98850
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:98863
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Cryptorchidism, Chron...	ORPHA:261494
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Short neck, Splenomegaly, ...	OMIM:611881
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:98853
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Exercise-induced rhabdomyolysis, Superficial dermal...	ORPHA:284426
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level	ORPHA:95715
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Abdominal ...	OMIM:615980
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Abn...	ORPHA:79078
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,...	OMIM:603689
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Elevated circulating C-reactive protein concentration, S...	OMIM:612852
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Type 2 muscle fiber atrophy, H...	OMIM:613845
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Holocarboxylase Synthetase Deficiency	Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Organic aciduria, Perioral eczema	ORPHA:79242
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Lipodystrophy, Sinusitis, Splenomegaly, Flexion contracture, Anemia, Arthri...	OMIM:617591
Myopathy, Myofibrillar, 6	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Knee flexion ...	OMIM:612954
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets, Conjugated hyperbilirubinemia	OMIM:211600
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Delayed skeletal maturation, Delayed proximal femoral epiphyseal ossificati...	ORPHA:90674
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive	ORPHA:35710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc...	OMIM:615398
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	ORPHA:94080
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst,...	ORPHA:1834
Amed Syndrome, Digenic	Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, A...	OMIM:619151
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Hip dislocati...	OMIM:605432
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy, Elevated circulating creatine kinase concentration	OMIM:232400
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Mildly elevated creatine kin...	ORPHA:399086
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Polycystic kidney dysplasia	OMIM:608776
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Facial palsy, Quadriceps muscle weakness, Rag...	ORPHA:254892
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, High palate, Arthrogr...	ORPHA:85212
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Red urine, Red-brown urine, Keratoconjunctivitis, Scleritis,...	ORPHA:95159
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Dysphagia, Calf muscle ...	OMIM:619178
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Scarring, Anisocytosis, Increased c...	ORPHA:79277
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Aregenerative Anemia	Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni...	ORPHA:101096
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubin...	OMIM:557000
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr...	OMIM:618733
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Micrognathia, Hip dislocation, Cleft palate, Fused cervical ve...	ORPHA:3320
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok...	OMIM:227810
Kbg Syndrome	Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Delayed skeletal maturatio...	OMIM:148050
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia, Dysphagia	OMIM:615750
Overlap Myositis	Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ...	ORPHA:206572
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos...	ORPHA:93346
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia, Depression	ORPHA:69665
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Congenital Myopathy 17	Failure to thrive in infancy, Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic ev...	OMIM:618975
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Long p...	OMIM:171480
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Porphyria, Congenital Erythropoietic	Conjunctivitis, Joint contracture of the hand, Red urine, Pink urine	OMIM:263700
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Mucopolysaccharidosis Type 4	Joint dislocation, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Delaye...	ORPHA:582
Sporadic Infantile Bilateral Striatal Necrosis	Urinary incontinence, Titubation, Dysphagia, Abnormal posturing, Hypomimic face	ORPHA:225147
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunction, Aminoacidur...	ORPHA:436271
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Smooth philtrum, Thoracic scoliosis, Thin upper lip vermilion, Kyphoscoliosis, Short ...	OMIM:611209
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta	OMIM:612783
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Anorexia, Megaloblastic anemia	ORPHA:49827
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi...	OMIM:253000
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Myopathy, Ethylmalonic aciduria, Weakness of facial musculature, Failure to ...	OMIM:201470
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Bone pain, Gingival overgrowth, Leukopeni...	ORPHA:520
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Anorexia, Weight loss	ORPHA:100083
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
Felty Syndrome	Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of joint mobility, Splenomegal...	ORPHA:47612
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Dysphagia	OMIM:304700
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph...	ORPHA:98911
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration...	ORPHA:254361
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys...	ORPHA:95455
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Cheilitis, Glossitis, Thrombocytopenia	ORPHA:90045
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Hyperam...	ORPHA:3008
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Small for gestational age, Decreased activity of mitochondrial respiratory c...	OMIM:619147
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hyperbilirubinemia	OMIM:235555
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Trismus, Deep philtrum, Hyperextensible hand joints, Dental ma...	OMIM:227330
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
King-Denborough Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, B...	OMIM:619542
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
X-Linked Agammaglobulinemia	Osteomyelitis, Sinusitis, Anemia, Arthritis, Glossoptosis, Hypocalcemia, Neutropenia, Cellulitis,...	ORPHA:47
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal urine alpha-ketoglutarat...	ORPHA:31
Mody	Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Renal cyst, Glycosuria...	ORPHA:552
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P...	ORPHA:534
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Ogden Syndrome	Congenital hip dislocation, Short neck, Micrognathia, Deep philtrum, Iron deficiency anemia, Shor...	OMIM:300855
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
21Q22.11Q22.12 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Hyperactivity, Sacral dimple, Dental crowding, Thrombo...	ORPHA:261323
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Noonan Syndrome 12	Lymphopenia, Spinal canal stenosis, Thrombocytopenia	OMIM:618624
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Decreased methylma...	OMIM:277400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, General...	ORPHA:52430
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:248800
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Cog4-Cdg	Irritability, Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Reticular Dysgenesis	Skin rash, Abnormality of mitochondrial metabolism, Weight loss, Chronic otitis media, Failure to...	ORPHA:33355
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Recurrent skin infections, Cryptorchidism, Functional abnormality of the b...	ORPHA:2953
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Failure to thrive, Hypospadias	ORPHA:2115
Stormorken Syndrome	Hematuria, Myopathy, Elevated circulating creatine kinase concentration	OMIM:185070
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco...	ORPHA:91138
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Flexion contracture, Dilatation of the rena...	ORPHA:314588
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia	ORPHA:1237
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Wagro Syndrome	Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp...	OMIM:612469
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Attention deficit hyperactiv...	OMIM:619227
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Robinow Syndrome	Fused thoracic vertebrae, Dental crowding, Kyphoscoliosis, Micrognathia, Persistence of primary t...	ORPHA:97360
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ...	OMIM:618048
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Thin upper lip vermilion, Pancytopenia, Megaloblastic anemia, Hyperhomocy...	OMIM:277380
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar...	ORPHA:36412
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology	ORPHA:3196
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Tics, Short philtrum,...	OMIM:619475
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Polycystic kidney dysplasia	OMIM:263210
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Viral infect...	OMIM:154275
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernu...	OMIM:271520
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Genu...	OMIM:269300
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy	OMIM:618829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El...	OMIM:608840
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Recurrent oti...	OMIM:619525
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske...	OMIM:619790
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Huntington Disease-Like 1	Restlessness, Abnormal posturing, Weight loss	ORPHA:157941
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia	OMIM:607765
Autoimmune Hepatitis	Splenomegaly, Arthritis, Increased total bilirubin, Depression	ORPHA:2137
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren...	ORPHA:188
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Viral infect...	OMIM:154276
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Polyphagia, Obesity, Enuresis, Self-injurious behavior, Compulsive behaviors...	ORPHA:293987
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Cam...	OMIM:608104
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Eczema, Congenital diaphragmatic hernia, Obesity, Compulsive behavi...	ORPHA:1001
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Short philtrum, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocy...	OMIM:603585
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperac...	ORPHA:261197
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Abnorm...	ORPHA:158061
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Cryptorchidism, Moderate albuminuria, Obesity	OMIM:614231
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Ddost-Cdg	Failure to thrive, Nephrotic range proteinuria	ORPHA:300536
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E...	OMIM:609452
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Agitation,...	ORPHA:263455
Nephroblastoma	Hematuria, Nephroblastoma, Weight loss	ORPHA:654
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology...	ORPHA:75840
Donnai-Barrow Syndrome	Proteinuria, Congenital diaphragmatic hernia	ORPHA:2143
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Attention deficit hyperactivity disorder, Dysphagia, Aspiration pneumonia, Abnormal ...	ORPHA:216866
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Urethral stenosis, Flexion contract...	ORPHA:261290
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Micrognathia, Kyphosis, Wide mouth, Increased mean corpuscular volume, High pala...	ORPHA:261250
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration, De...	OMIM:614887
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Hyperammonemia, Anemia, Neutropenia	ORPHA:289916
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Fumarase Deficiency	Necrotizing enterocolitis, Increased urine succinate level, Bilateral fetal pyelectasis, Decrease...	OMIM:606812
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao...	ORPHA:298
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M...	OMIM:619518
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Facial palsy, Limb-girdle muscle weakness, Fl...	ORPHA:171436
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Extremely elevated creatine kinase, Upper limb muscle weakness, Distal amyotrophy, EMG: myopathic...	ORPHA:99939
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t...	OMIM:612394
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Renpenning Syndrome	Skeletal muscle atrophy, Hypospadias, Decreased testicular size, Cachexia	ORPHA:3242
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Myocarditis, Hepatitis, Endocarditis, H...	ORPHA:549
Trisomy 13	Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea...	ORPHA:3378
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Irritability, ...	OMIM:618278
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Defective DNA repair after ultraviolet radiation dama...	OMIM:610965
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:145600
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef...	OMIM:109400
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Gingival bleeding, Neutropenia, Thrombocytopenia	ORPHA:88
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Skeletal muscle hy...	ORPHA:2348
Cranioectodermal Dysplasia 2	Joint laxity, Inguinal hernia, Craniosynostosis, Short neck, Micrognathia, Splenomegaly, Cleft pa...	OMIM:613610
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu...	ORPHA:811
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Recurrent...	OMIM:150550
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia	ORPHA:27
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Spinocerebellar Ataxia With Epilepsy	Myopathy	ORPHA:254881
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Cachexia, Head titubation, Upper-limb joint contra...	ORPHA:300605
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Increased bone mineral density, Thrombocytopenia	OMIM:231095
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Irritability, Leu...	ORPHA:292
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorch...	ORPHA:261344
Snakebite Envenomation	Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis, Gingival bleeding, Thrombocytopenia	ORPHA:449285
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Igg4-Related Aortitis	Increased inflammatory response, Hydronephrosis, Weight loss	ORPHA:449400
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema...	ORPHA:1018
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Propionic Acidemia	Pancytopenia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:606054
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Alveolar Echinococcosis	Cholangitis, Pancreatic cysts, Renal cyst, Weight loss, Abnormal skeletal muscle morphology, Abno...	ORPHA:284
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Joint contr...	OMIM:618460
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Proteinuria, Flexion contracture, Renal cyst, Nephrotic syndrome, Proximal tubulopa...	OMIM:212065
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Osteoporosis, Microdontia, Pterygium, Oral leukopla...	OMIM:224230
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Cleft palate, Anemia, Short ph...	ORPHA:163979
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Kyphoscoliosis, Acanthocyto...	ORPHA:14
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Acute pancreatitis, Proteinuria, Polycystic ovaries, Myopathy, Pan...	ORPHA:79086
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Nephritis	OMIM:274240
Branchiootorenal Syndrome 1	Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dy...	OMIM:113650
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:353
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Smooth philtrum, Thrombocytopenia, Increased size of the mandible, Increased mean platelet volume	OMIM:300048
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr...	ORPHA:887
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Myoglobinuria, Abnormality of masseter mus...	ORPHA:423
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Pathologic fracture, Vert...	OMIM:230800
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cac...	ORPHA:800
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l...	ORPHA:263297
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Congenital diaphragmatic hernia, Cryptorchid...	OMIM:122470
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Cryptorchid...	OMIM:257300
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Anorexia, Renal salt wasting, Cryptorchidism, Testicular adre...	ORPHA:361
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Genitopalatocardiac Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia	ORPHA:2075
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy, Osteoarthritis	ORPHA:166002
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Flexion contracture, Renal cortical cysts, Erythroderma	OMIM:609180
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Oculoauriculovertebral Spectrum With Radial Defects	Vesicoureteral reflux, EMG: myopathic abnormalities, Distal urethral duplication, Renal hypoplasi...	ORPHA:2549
Nail-Patella Syndrome	Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pectoralis minor...	OMIM:161200
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri...	OMIM:613312
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Thin upper lip vermilion, Absent platelet dense granules, Carious teeth, Splenom...	OMIM:608233
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Long philtrum, Severe temper tantrums, Thrombocytopenia, Aggressive behavior	OMIM:617710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Scleromyxedema	Abnormality of the kidney, Elevated circulating creatine kinase concentration, Abnormal skeletal ...	ORPHA:167635
Recon Progeroid Syndrome	Joint laxity, Smooth philtrum, Prominence of the premaxilla, Dental crowding, Anemia, Thin vermil...	OMIM:620370
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy, Hyperactivity	ORPHA:363400
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Transaldolase Deficiency	Pancytopenia, Short neck, Splenomegaly, Deep philtrum, Hepatosplenomegaly, Anemia, Wide mouth, Th...	OMIM:606003
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Myopathy, Abnormal circulating creatine kinase concentration, Muscular d...	ORPHA:559
Shashi-Pena Syndrome	Thin upper lip vermilion, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cer...	OMIM:617190
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial con...	ORPHA:178148
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr...	ORPHA:50814
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Short neck, Joint stiffness, H...	OMIM:139210
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Conjunctivitis, Renal cyst	OMIM:615560
Pure Mitochondrial Myopathy	Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhabdomyolysis, Proximal a...	ORPHA:254854
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar...	ORPHA:2035
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Thin upper lip vermilion	ORPHA:370010
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the urinary system phys...	ORPHA:2552
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,...	ORPHA:79128
Simpson-Golabi-Behmel Syndrome	Omphalocele, Vertebral fusion, Inguinal hernia, Congenital hip dislocation, Mandibular prognathia...	ORPHA:373
Immune Thrombocytopenia	Gingival bleeding, Thrombocytopenia	ORPHA:3002
Fatal Familial Insomnia	Urinary retention, Dysphagia, Weight loss	OMIM:600072
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Cleft upper lip, Cleft palate, Accelerated bone age after puberty, Thrombocytopenia	ORPHA:96181
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis	OMIM:602199
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis	ORPHA:99867
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Alg8-Cdg	Hyponatremia, Abnormality of subcutaneous fat tissue, Anemia, Macroglossia, Camptodactyly, Thromb...	ORPHA:79325
Joubert Syndrome 1	Hyperactivity, Aggressive behavior, Renal cyst, Macroglossia, Nephropathy, Self-mutilation	OMIM:213300
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera...	ORPHA:464306
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Failure to thrive, Hydronephrosis	ORPHA:912
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Mandibuloacral Dysplasia Progeroid Syndrome	Left ventricular hypertrophy, Focal segmental glomerulosclerosis, Flexion contracture, Proteinuria	OMIM:619127
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Abnormality of the dentition, Osteoporosis, Leukopenia, Neutropeni...	OMIM:613989
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Micrognathia, Leukopenia, Iron deficiency anemia, High pal...	OMIM:619488
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251110
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Tufted Angioma	Anemia, Hemangioma of the lip, Thrombocytopenia	ORPHA:1063
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Thrombocytopenia, Wide mouth, Long philtrum, Umbilical hernia, Open mou...	OMIM:616638
Sanjad-Sakati Syndrome	Cryptorchidism, Hypoplasia of penis, Myopathy	ORPHA:2323
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Decreased 3-hydroxyacyl-CoA...	ORPHA:71212
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Hardikar Syndrome	Thoracolumbar scoliosis, Cleft soft palate, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosple...	OMIM:301068
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Mosaic Trisomy 1	Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Renal cortic...	ORPHA:1692
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Perianal abscess, Cryptorchidism, Urachus fistula, Myopathy, ...	OMIM:612541
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Dysphagia, Weight loss	ORPHA:2198
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Acute Monoblastic/Monocytic Leukemia	Oliguria, Anorexia, Weight loss	ORPHA:514
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Dental crowding, Micrognathia, Kyphosis, High palate, Thick v...	OMIM:619005
Stromme Syndrome	Myopathy, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Takenouchi-Kosaki Syndrome	Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Increased mean platelet volume, Denta...	OMIM:616737
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Vici Syndrome	Elevated circulating creatine kinase concentration, Chronic mucocutaneous candidiasis, Myopathy, ...	OMIM:242840
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Facial palsy, Camptodactyly of finger, Hydronephrosis, Attention de...	ORPHA:261349
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Macr...	ORPHA:90673
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Decreased activity of mitochondrial complex IV, Increased variability in muscle fiber d...	OMIM:604377
Erythrokeratodermia Variabilis	Abnormal testis morphology, Skin rash, Weight loss	ORPHA:317
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi...	ORPHA:169090
Nail-Patella Syndrome	Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Contracture o...	ORPHA:2614
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Christianson Syndrome	Decreased muscle mass, Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex cong...	ORPHA:85278
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Polymyositis	Pericarditis, Elevated circulating creatine kinase concentration, Anorexia, Abnormal muscle fiber...	ORPHA:732
X-Linked Intellectual Disability, Nascimento Type	Aggressive behavior, Lower extremity joint dislocation, Deep philtrum, Downturned corners of mout...	ORPHA:163956
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Craniosynostosis, Thrombocytopenia, Leukopeni...	OMIM:301056
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, High nonceruloplasmin-bound serum copper, Scoliosis, Retrognathia, Abnor...	ORPHA:457351
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Aredyld Syndrome	Abnormality of the ureter, Cachexia	ORPHA:1133
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Micrognathia, Splenomegaly, Narrow mouth, Hepatosplenomegaly, Anemia...	OMIM:608013
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Noonan Syndrome 4	Short neck, Delayed skeletal maturation, Dental malocclusion, Wide mouth, Thick vermilion border,...	OMIM:610733
Joubert Syndrome 14	Renal cyst	OMIM:614424
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Myop...	OMIM:307030
Ohdo Syndrome	Cryptorchidism, Proteinuria	OMIM:249620
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Comp...	OMIM:618454
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Anorexia, Orchitis, Pu...	ORPHA:761
Pseudo-Torch Syndrome 3	Lymphadenitis, Acute kidney injury, Proteinuria	OMIM:618886
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Oligozoospermia	ORPHA:91351
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Cleft upper lip, Micrognathia, Kyphosis, Delay...	OMIM:194190
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpus...	OMIM:127550
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Enamel hypoplasia...	OMIM:614576
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme...	OMIM:101200
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Left ventricular hypertrophy, Lipiduria	OMIM:301500
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Cachexia, Aggressive behavior, Dysphagia, Limb muscle weak...	ORPHA:97229
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea...	OMIM:255160
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Tuberous Sclerosis Complex	Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ...	ORPHA:805
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating c...	ORPHA:610
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Weight loss	ORPHA:97289
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, Splenomegaly, E...	OMIM:614866
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle muscular dystrophy, Mus...	ORPHA:369840
Mpdu1-Cdg	Eczema, Elevated circulating creatine kinase concentration, Renal cortical cysts	ORPHA:79323
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N...	OMIM:304790
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Limb-girdle muscle w...	ORPHA:79240
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Scoliosis, Thrombocytopenia, Synostosis of ...	ORPHA:2307
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Knee flexion contracture, Arthrogr...	ORPHA:85201
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Myopathy, Dysphagia, Weakness of facial musculature	ORPHA:98673
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Hyperbilirubinemia	OMIM:613812
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Thoracic scoliosis, Cervical hemivertebrae, Thin upper ...	ORPHA:508498
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent pneumonia, Megacystis, Abnormal d...	ORPHA:209905
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia, Scoliosis	OMIM:616577
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper lip, Cleft palate, Mult...	ORPHA:50
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circu...	OMIM:201475
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypoplasia of the mu...	OMIM:254940
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Kyphosis, Thrombocytopenia, Thick lower lip vermilion, Dow...	OMIM:620185
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Camptodactyly of finger	ORPHA:2065
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne...	ORPHA:342
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Caroli Syndrome	Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm...	ORPHA:480520
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Aggressive behavior, Tongue thrusting, Polycystic kidney dysplasia, Br...	OMIM:606232
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ...	ORPHA:556
Trisomy 20P	Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidism, Abnormality of t...	ORPHA:261318
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski...	ORPHA:900
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leukopenia, ...	ORPHA:508542
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Weight loss, Testicular ter...	ORPHA:764
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Epidermal Nevus Syndrome	Rhabdomyosarcoma, Weakness of long finger extensor muscles, Polycystic kidney dysplasia	ORPHA:35125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged...	OMIM:258450
Pallister-Hall Syndrome	Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid...	OMIM:146510
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, High palate, Neutropenia, Umbilical hernia, Thrombocytopenia	OMIM:614520
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland...	ORPHA:2473
Duane Retraction Syndrome	Short neck, Micrognathia, Spina bifida occulta, Abnormal form of the vertebral bodies, Cleft pala...	ORPHA:233
Pseudo-Torch Syndrome 1	Microretrognathia, Splenomegaly, Cleft lip, High palate, Long philtrum, Umbilical hernia, Thrombo...	OMIM:251290
Tularemia	Thrombocytopenia, Leukocytosis, Oral ulcer, Anemia	ORPHA:3392
Holocarboxylase Synthetase Deficiency	Irritability, Hyperammonemia, Thrombocytopenia	OMIM:253270
Liver Disease, Severe Congenital	Joint laxity, Hyperalaninemia, Inguinal hernia, Hyponatremia, Elevated circulating alpha-fetoprot...	OMIM:619991
Osteootohepatoenteric Syndrome	Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss	OMIM:619377
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Methylmalonic Aciduria, Cbla Type	Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Elevated urine 2...	OMIM:251100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Abnormality of the urinary system, Congeni...	ORPHA:369837
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Skeletal muscle atrophy	OMIM:612300
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte...	ORPHA:87
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Attention def...	ORPHA:251071
Dengue Fever	Leukopenia, Hypoproteinemia, Gingival bleeding, Thrombocytopenia	ORPHA:99828
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Ske...	ORPHA:79083
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Hereditary Late-Onset Parkinson Disease	Impulsivity, Spastic/hyperactive bladder, Weight loss, Agitation, Dysphagia, Hypomimic face	ORPHA:411602
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper lip, Hemivertebrae, Cle...	OMIM:304050
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Failure to thrive, Dilatation of the renal pelvis, Stage 5 chron...	OMIM:619534
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Scoliosis	ORPHA:95232
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Beta-Ketothiolase Deficiency	Ketonuria, Anorexia, Weight loss, Agitation, Oral aversion	ORPHA:134
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Dysphagia, Cervical C2/C3 vertebral fusion, Ante...	ORPHA:268882
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow m...	ORPHA:1780
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Floating-Harbor Syndrome	Restlessness, Hypospadias, Renal agenesis, Small for gestational age, Aggressive behavior, Impuls...	ORPHA:2044
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	ORPHA:682
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognath...	ORPHA:2785
Immunodeficiency 9	Stomatitis, Myopathy, Failure to thrive, Recurrent aphthous stomatitis	OMIM:612782
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Delayed skeletal maturation, Rickets, Re...	OMIM:613658
Acute Adrenal Insufficiency	Renal insufficiency, Salt craving, Anorexia, Decreased urinary potassium, Renal salt wasting, Wei...	ORPHA:95409
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, Lacti...	ORPHA:255210
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Recurrent aphthou...	OMIM:301078
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Diaphragmatic eventration, Proteinuria, Congenital diaphragmat...	OMIM:222448
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Fanconi Anemia, Complementation Group I	Fused cervical vertebrae, Neutropenia, Short neck	OMIM:609053
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short neck, Congenital hypoplastic anemia, Thrombocytopenia, Micrognathia, Cle...	OMIM:105650
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Oral-pharyng...	OMIM:616878
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis	OMIM:608885
Muscle-Eye-Brain Disease	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:588
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Weight loss, Salmonella osteomyelitis	OMIM:209950
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia	OMIM:277480
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Insulin-Resistance Syndrome Type B	Proteinuria, Abnormality of body weight, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteo...	ORPHA:2298
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Cryptorchidism, Obesi...	ORPHA:813
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Anorexia, Weight loss, Hematuria, Arthritis	ORPHA:397
Multiple Endocrine Neoplasia, Type Iib	Myopathy, Failure to thrive in infancy, Elevated urinary epinephrine level	OMIM:162300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Elbow dislocation, Micrognathia, Cleft palate, Knee dislocati...	OMIM:108720
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short neck, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Stom...	ORPHA:168577
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:620300
Caroli Disease	Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating alpha-f...	ORPHA:53035
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Deeah Syndrome	Decreased hemoglobin concentration, Cervical hemivertebrae, Short neck, Narrow mouth, Delayed ske...	OMIM:619004
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Dubowitz Syndrome	Delayed eruption of teeth, Sacral dimple, Craniosynostosis, Abnormality of neutrophils, Micrognat...	ORPHA:235
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy, Aggressive behavior	ORPHA:85329
Bacterial Toxic-Shock Syndrome	Fasciitis, Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:36234
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Nephrotic syndrome, Heavy p...	ORPHA:505248
Distal Deletion 12Q	Late onset atopic dermatitis, Hyperactivity, Failure to thrive in infancy, Unilateral cryptorchid...	ORPHA:96149
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology	OMIM:274150
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Abnormality of the kidney, Flexion contracture, Uveitis, Arth...	ORPHA:90289
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Mcdonough Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Attention deficit hyperactivity disorder	OMIM:191100
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Zika Virus Disease	Wrist swelling, Arthritis, Ankle swelling, Thrombocytopenia	ORPHA:448237
Takayasu Arteritis	Increased inflammatory response, Anorexia, Weight loss, Arthritis, Inflammatory abnormality of th...	ORPHA:3287
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesi...	ORPHA:85293
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Large for gestational age, Renal cyst, Macroglossia, Nephroblastoma, Bifid ure...	OMIM:617107
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Foot joint contracture, Cryptorchidism, Uveitis, Conjunctivitis...	ORPHA:90321
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Horseshoe kidney, Hydronephrosis, M...	ORPHA:99776
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
D-Bifunctional Protein Deficiency	Decreased muscle mass, Failure to thrive, Renal cyst	OMIM:261515
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Vesic...	ORPHA:2059
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Delayed skeletal maturation, Macroglossia, Hyperbiliru...	OMIM:218700
Wolfram Syndrome 1	Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Dysphagia	OMIM:222300
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight...	ORPHA:1501
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T...	ORPHA:381
Brucellosis	Anorexia, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Intrarenal abscess, Pneumon...	ORPHA:1304
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Prominent metopic ridge, Shoulder flexion contracture, Short neck, Elbow disloca...	OMIM:210710
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Deep philtrum, Pierre-Robin seque...	OMIM:617137
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Failure...	ORPHA:367
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Elbow disloca...	ORPHA:2769
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Attention de...	OMIM:613254
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchid...	ORPHA:1606
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur...	ORPHA:355
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Vexas Syndrome	Arthritis, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytop...	OMIM:301054
Prolidase Deficiency	Micrognathia, Splenomegaly, Anemia, High palate, Thrombocytopenia	OMIM:170100
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Anemia, Dysphagia, Thrombocytopenia	ORPHA:169105
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm...	ORPHA:3240
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Sacral dimple, Inguinal hernia, Tented upper lip vermilion, Short neck,...	OMIM:613458
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Pleural Mesothelioma	Dysphagia, Weight loss	ORPHA:50251
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Dysphagia, Abnormal posturing	OMIM:128100
Huntington Disease-Like 2	Weight loss	OMIM:606438
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Homocystinuria, Methylmalonic aciduria	OMIM:277410
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Spondyloenchondrodysplasia	Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven...	ORPHA:1855
3-Methylglutaconic Aciduria, Type Viib	Micrognathia, Trismus, Flexion contracture, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Cario...	OMIM:131300
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Micrognathia, Anisopoikilocytosis, A...	ORPHA:46059
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Hepatitis...	ORPHA:781
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Dysphagia, E...	ORPHA:480864
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Failure to thrive, Cholangitis, Pancreatic cysts, Stage 5 chronic kidney di...	OMIM:266920
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof	OMIM:617159
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentration, Rhabdomyol...	ORPHA:94093
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Micropenis	OMIM:300519
Thrombocytopenia 6	Osteoporosis, Thrombocytopenia	OMIM:616937
Behçet Disease	Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi...	ORPHA:117
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ...	ORPHA:536
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Stevens-Johnson Syndrome	Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctivitis, Dysphagia,...	ORPHA:36426
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Splenomegaly, Flexion contracture, Gingival ov...	OMIM:301072
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/a...	ORPHA:2538
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Mcleod Syndrome	Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Compulsive behaviors	OMIM:300842
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Gingiviti...	OMIM:214500
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis,...	OMIM:613990
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Myopathy, Enlarged kidney	OMIM:261740
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Hepatitis, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Self-injurious be...	ORPHA:371364
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Kyphoscoliosis...	OMIM:610377
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Weight loss	ORPHA:767
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Renal hypoplasia, Renal cyst	OMIM:616300
Alg12-Cdg	Hyponatremia, Thin upper lip vermilion, Ulnar deviation of the wrist, Micrognathia, Camptodactyly...	ORPHA:79324
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Castleman Disease	Hematuria, Renal insufficiency, Ureteral obstruction, Weight loss	ORPHA:160
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Abnormality of the dentition, Hypoplasia of the ...	ORPHA:1775
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Eosinophilic Fasciitis	Myositis, Fasciitis, Weight loss, Arthritis, Muscular edema	ORPHA:3165
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight lo...	ORPHA:79102
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Thoracic scoliosis, Natal tooth, Aplasia of the thymus, Micrognathia, C...	OMIM:620186
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Increased...	ORPHA:487796
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of...	ORPHA:353281
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Ovoid vertebral bodies, Thrombocytopenia, Delayed skeletal ...	OMIM:260400
Neutral Lipid Storage Disease With Ichthyosis	Obesity, Myopathy, Shoulder girdle muscle weakness, Abnormal circulating creatine kinase concentr...	ORPHA:98907
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocyto...	ORPHA:77293
Neutral Lipid Storage Myopathy	Hand muscle weakness, Chronic pancreatitis, Fatty replacement of skeletal muscle, Obesity, Genera...	ORPHA:98908
Mulibrey Nanism	Cachexia	ORPHA:2576
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Myopathy, Skeletal muscle atrophy, Type 1 muscle fiber predominance	OMIM:614557
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Tick-Borne Encephalitis	Back pain, Stiff neck, Anorexia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:297
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Weight loss, Enuresis nocturna, Arthritis, Chromosomal breakage i...	ORPHA:420741
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Micrognathia, Thrombocytopenia, Leukocytosis, Patellar aplasia, Hip dislocation, Cl...	OMIM:274000
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Decreased muscle mass, Urinary incontinence, Phonic tics, Myopathy, Dysphagia, Obs...	OMIM:234200
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Facial hypotonia, Pneumonia, Oligosacchariduria, Macroglossia...	ORPHA:309282
Xp21 Deletion Syndrome	Decreased muscle mass, Elevated circulating creatine kinase concentration, Myopathy, Calf muscle ...	ORPHA:261476
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Fractures of the long bones, Abnormal sacrum morphology, Thro...	ORPHA:464329
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Scoliosis, Hypoplastic spleen, Lymphope...	OMIM:617053
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Campt...	OMIM:309000
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Oral ulcer, Gingivitis, Ankle clonus, Neutropenia, Stomatitis, Th...	OMIM:308230
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Micropenis, Pancreatitis	OMIM:619471
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Elevated circulat...	ORPHA:2388
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Diamond-Blackfan Anemia 21	Micrognathia, Erythroid hypoplasia, Genu valgum, Anemia, Narrow mouth, Cubitus valgus, Thrombocyt...	OMIM:620072
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Pearson Syndrome	Renal insufficiency, Proteinuria, Small for gestational age, Lacticaciduria, Renal cyst, Dysphagi...	ORPHA:699
Classic Hodgkin Lymphoma	Skin rash, Anorexia, Weight loss	ORPHA:391
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia...	ORPHA:167
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Joubert Syndrome 21	Hyperechogenic kidneys, Chronic sinusitis, Renal cyst, Dysphagia	OMIM:615636
Hajdu-Cheney Syndrome	Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Failure to thrive	OMIM:102500
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Microphthalmia, Syndromic 3	Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Cryptorchidism, Ren...	OMIM:229850
Pfapa Syndrome	Arthritis, Infectious encephalitis, Weight loss	ORPHA:42642
Farber Disease	Abnormality of the knee, Thrombocytopenia, Flexion contracture, Osteoporosis, Abnormality of the ...	ORPHA:333
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Upper limb muscle weakness, ...	ORPHA:892
Solitary Fibrous Tumor	Urinary retention, Weight loss	ORPHA:2126
Hellp Syndrome	Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight	ORPHA:244242
Trisomy 10P	Decreased muscle mass, Small for gestational age, Abnormality of the kidney, Dysphagia, Multiple ...	ORPHA:171929
Moynahan Syndrome	Cachexia	ORPHA:2574
Reynolds Syndrome	Calcinosis, Splenomegaly, Lip telangiectasia, Hyperbilirubinemia, Lymphopenia	OMIM:613471
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ketonuria, Anorexia, Weight loss, 3-Methylglutaric aciduria	ORPHA:20
Pseudoachondroplasia	Skeletal myopathy, Osteoarthritis	ORPHA:750
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Short neck, Micrognathia, Cleft upper lip, Pa...	ORPHA:3103
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Congenital diaphragmatic he...	ORPHA:1596
Diamond-Blackfan Anemia	Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Short neck, Micrognathia, Eryth...	ORPHA:124
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Diastasis recti, Congenital diaphragmatic hernia, Renal hypoplasia/...	ORPHA:2092
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren...	OMIM:270400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Hip contracture, Failure to thrive in infancy, Cachexia	OMIM:616801
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Joubert Syndrome 5	Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ...	OMIM:610188
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease...	OMIM:609049
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Hematuria, Nephrotic syndrome, Arthri...	ORPHA:324
Addison Disease	Primary testicular failure, Salt craving, Anorexia, Decreased urinary potassium, Renal salt wasti...	ORPHA:85138
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Agel Amyloidosis	Keratoconjunctivitis sicca, Facial palsy, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi...	ORPHA:186
Yellow Fever	Low back pain, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, El...	ORPHA:99829
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Nijmegen Breakage Syndrome	Hyperactivity, Autoimmune hemolytic anemia, Sinusitis, Micrognathia, Malar prominence, Cleft uppe...	OMIM:251260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Dysphagia	OMIM:613077
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Benign Recurrent Intrahepatic Cholestasis	Pancreatitis, Anorexia, Weight loss	ORPHA:65682
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to ...	OMIM:112250
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce...	OMIM:233450
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Gaucher Disease, Type Ii	Splenomegaly, Trismus, Anemia, Dysphagia, Thrombocytopenia	OMIM:230900
C Syndrome	Cryptorchidism, Failure to thrive, Renal cortical cysts	OMIM:211750
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Gm1 Gangliosidosis	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Weight loss, Macro...	ORPHA:354
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Failure to thrive	ORPHA:71
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication...	DECIPHER:81
Wars2-Related Combined Oxidative Phosphorylation Defect	Thin upper lip vermilion, Aggressive behavior, High palate, Dysphagia, Thrombocytopenia	ORPHA:572798
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Attention deficit hyperactivity disorder, Vesicoureteral...	OMIM:616975
Fanconi Anemia, Complementation Group C	Pancytopenia, Thrombocytopenia, Flexion contracture, Anterior wedging of T12, Reticulocytopenia, ...	OMIM:227645
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosarcoma, Decreased fumarate hydrat...	OMIM:150800
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Thrombocytopenia, Delayed skeletal maturation, Splenomegaly, ...	OMIM:222700
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Weight loss	ORPHA:1164
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Chronic sinusitis, Thrombocytopenia	OMIM:606593
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Genu valgum, S...	OMIM:612199
Blue Rubber Bleb Nevus	Pathologic fracture, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Shigellosis	Hyponatremia, Anorexia, Leukocytosis, Abnormal blood ion concentration, Arthritis, Microangiopath...	ORPHA:810
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Lipodystrophy, Camptodactyly of fi...	OMIM:256040
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia, Dysphagia	ORPHA:319218
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Aggressive behavior, Cryptorchidism, Renal cyst, Keratoconjunctivitis sicca, Attenti...	ORPHA:495875
Schinzel-Giedion Syndrome	Hypospadias, Nephroblastoma, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of th...	ORPHA:798
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Atopic dermatitis, Weight loss, Increased c...	ORPHA:171876
Chops Syndrome	High, narrow palate, Splenomegaly, Downturned corners of mouth, Long philtrum, Tracheomalacia, Ce...	OMIM:616368
Beckwith-Wiedemann Syndrome	Ureteral duplication, Diastasis recti, Congenital diaphragmatic hernia, Large for gestational age...	ORPHA:116
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Cockayne Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinen...	ORPHA:191
Fanconi Anemia, Complementation Group B	Aplastic anemia, Abnormal vertebral morphology, Thrombocytopenia, Short neck	OMIM:300514
Histiocytoid Cardiomyopathy	Failure to thrive, Renal cyst, Polycystic ovaries	ORPHA:137675
Chanarin-Dorfman Syndrome	Myopathy	OMIM:275630
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Short philtrum, Abnormal dental...	ORPHA:567
Anaplastic Thyroid Carcinoma	Dysphagia, Abnormal skeletal muscle morphology, Weight loss	ORPHA:142
Aicardi-Goutieres Syndrome 1	Splenomegaly, Self-mutilation, Thrombocytopenia	OMIM:225750
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Oral leukoplakia, Anemia	ORPHA:3322
Follicular Lymphoma	Weight loss	ORPHA:545
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu...	ORPHA:365
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Macroglossia, Camptod...	ORPHA:500095
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydronephrosis,...	OMIM:615287
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Craniosynostosis, Micrognathia, Thro...	OMIM:620005
Carcinoid Syndrome	Myopathy	ORPHA:100093
Microform Holoprosencephaly	EMG: myopathic abnormalities, Hypoplasia of penis, Renal agenesis	ORPHA:280200
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Ves...	OMIM:140000
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Facial palsy, Renal tubular epithelial necrosis, Renal tubular dy...	ORPHA:31826
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Wi...	OMIM:157800
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Beckwith-Wiedemann Syndrome	Diastasis recti, Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macrogl...	OMIM:130650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Severe B lymphocytopenia, Micrognathia, Contracture of the distal interphalangea...	ORPHA:83617
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Short neck, Deep philtrum, Non-midline cleft lip, ...	ORPHA:647
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss	ORPHA:26790
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Pancreatitis, Proximal upper limb muscle hypertrophy, Polycystic ovaries, Skeletal muscle hypertr...	ORPHA:280365
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ...	OMIM:618186
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Panniculitis, Anemia	OMIM:615758
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormality of...	ORPHA:84
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Multiple Myeloma	Weight loss, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute kidney injury	ORPHA:29073
Lujo Hemorrhagic Fever	Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Dysp...	ORPHA:319213
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Hyperammonemia,...	ORPHA:79282
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal testis morphology, Abnormality of the kidney, Weight loss	ORPHA:54251
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Acrorenal-Mandibular Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac...	OMIM:200980
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Congenital diaphragmatic hernia, Polycystic kidney dysplasia	OMIM:616546
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ...	ORPHA:324964
Syndromic Diarrhea	Gastritis, Small for gestational age, Renal hypoplasia, Colitis, Polycystic kidney dysplasia	ORPHA:84064
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Failure to thrive...	ORPHA:397715
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Hashimoto thyroiditis, Cachexia	ORPHA:109
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities, Obesity	OMIM:618822
Catastrophic Antiphospholipid Syndrome	Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Avascular necrosi...	ORPHA:464343
Oromandibular Dystonia	Torticollis, Bruxism, Dysphagia, Weight loss	ORPHA:93958
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Dysphagia	OMIM:609286
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Chronic otitis ...	ORPHA:2750
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Myopathy, Skeletal muscle atrophy	ORPHA:536545
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Failure to thrive, Facial palsy, Camptodactyly, Joint contracture o...	OMIM:300373
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Hermansky-Pudlak Syndrome	Renal insufficiency, Anorexia, Weight loss	ORPHA:79430
Trisomy 18	Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Abnormality of the upper urin...	ORPHA:3380
Shwachman-Diamond Syndrome 2	Normocytic anemia, High palate, Neutropenia, Thrombocytopenia, Genu varum	OMIM:617941
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:618775
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Thrombocytopenia,...	ORPHA:906
C Syndrome	Multicystic kidney dysplasia, Failure to thrive in infancy, Congenital diaphragmatic hernia, Rena...	ORPHA:1308
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis	OMIM:607323
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los...	OMIM:164310
Eosinophilic Gastroenteritis	Atopic dermatitis, Allergic rhinitis, Dysphagia, Weight loss	ORPHA:2070
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Failure to thrive, Myopathy, Cholecystitis	OMIM:615512
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Diastasis recti, Renal cortical cysts	OMIM:618548
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed skeletal maturation, Sple...	ORPHA:77261
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Mogs-Cdg	Thoracic scoliosis, Hepatosplenomegaly, High palate, Retrognathia, Thrombocytopenia	ORPHA:79330
Cerebrocostomandibular Syndrome	Elbow flexion contracture, Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Pagod Syndrome	Multicystic kidney dysplasia, Abnormal testis morphology, Congenital diaphragmatic hernia, Renal ...	ORPHA:991
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Increas...	ORPHA:565612
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchiectasis, Weight loss, Hematuria, Testicular microlithiasis	ORPHA:60025
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration	OMIM:620326
Kaposi Sarcoma	Skin rash, Weight loss	ORPHA:33276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni...	OMIM:102700
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hepatitis, Atopic dermatitis, Weight loss, ...	OMIM:615846
Rift Valley Fever	Back pain, Anorexia, Anemia, Gingival bleeding, Thrombocytopenia	ORPHA:319251
Secondary Short Bowel Syndrome	Failure to thrive, Polyphagia, Enterocolitis, Weight loss	ORPHA:95427
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss	ORPHA:312
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia	ORPHA:702
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, ...	ORPHA:818
Lysosomal Acid Lipase Deficiency	Cachexia, Renal salt wasting, Abnormal urine potassium concentration, Weight loss, Hypernatriuria...	ORPHA:275761
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Small for gestational age, Cryptorchidism, Severe failure to th...	OMIM:133540
Flynn-Aird Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:2047
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Holoprosencephaly	Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Congenital diaphragmatic hernia, ...	ORPHA:2162
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma, Rhabdomyosarcoma, Muscular dystrophy	ORPHA:1052
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Marburg Hemorrhagic Fever	Back pain, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Anor...	ORPHA:99826
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Cronkhite-Canada Syndrome	Cachexia, Anorexia	ORPHA:2930
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Dysphagia	ORPHA:684
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Rhabdomyolysis, Skeletal myopathy, Left ventricular hypertrophy, Lo...	ORPHA:746
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil...	OMIM:300972
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Hyperactivity, Crypt...	ORPHA:3310
Perry Syndrome	Inappropriate behavior, Disinhibition, Weight loss	OMIM:168605
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle flexion cont...	ORPHA:2020
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Sandifer Syndrome	Abnormal posturing, Torticollis, Esophagitis	ORPHA:71272
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Arthriti...	ORPHA:2331
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Cryptorchidism, Chron...	ORPHA:1507
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly	ORPHA:1272
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Anorexia, Weight loss, Lower limb muscle weakness, Pancreatitis	ORPHA:370348
Perry Syndrome	Weight loss	ORPHA:178509
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro...	ORPHA:90051
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Jacobsen Syndrome	Smooth philtrum, Inguinal hernia, Short neck, Hip dislocation, Abnormal form of the vertebral bod...	ORPHA:2308
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Hepatitis	OMIM:194380
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv...	ORPHA:353277
Digeorge Syndrome	Pilonidal sinus, Inguinal hernia, Femoral hernia, Micrognathia, Thrombocytopenia, Splenomegaly, H...	OMIM:188400
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Ménétrier Disease	Giant hypertrophic gastritis, Anorexia, Weight loss	ORPHA:2494
Cockayne Syndrome A	Hip contracture, Renal insufficiency, Proteinuria, Cryptorchidism, Micropenis, Failure to thrive	OMIM:216400
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Choking episodes, Distal amyotrophy, Dysphagia, Muscle fiber atrophy...	ORPHA:98914
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Choking episodes, Distal amyotrophy, Dysphagia, Muscle fiber atrophy...	ORPHA:590
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Polysp...	OMIM:306955
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Igg4-Related Pachymeningitis	Sinusitis, Lower limb muscle weakness, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Wormian bones, Micrognathia, Downturned corners of mouth, Glossoptosis,...	ORPHA:444077
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Cachexia, Weight loss	ORPHA:83469
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Weight loss	OMIM:188580
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthritis, Decreased muscle mass, Testicular atrophy, Weight loss	ORPHA:465508
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Loeffler Endocarditis	Left ventricular hypertrophy, Pericarditis, Weight loss	ORPHA:75566
Acrodermatitis Enteropathica	Anorexia, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Familial Colorectal Cancer Type X	Renal neoplasm, Flexion contracture, Attention deficit hyperactivity disorder, Weight loss	ORPHA:440437
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Phimosis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis,...	ORPHA:99921
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Idiopathic Camptocormia	Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl...	ORPHA:1320
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Ankle swelling, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:3260
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration, Anorexia, Or...	ORPHA:99827
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Weight loss	ORPHA:411703
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Broad philtrum, Micrognathia	OMIM:620305
Rheumatoid Arthritis	Digital flexor tenosynovitis, Rheumatoid arthritis, Weight loss	OMIM:180300
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Leukopenia, Sacral dimple, Anemia	OMIM:603467
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Delayed s...	ORPHA:391487
Hajdu-Cheney Syndrome	Multiple renal cysts, Failure to thrive, Hypospadias, Periodontitis	ORPHA:955
Primary Sclerosing Cholangitis	Renal insufficiency, Hepatitis, Ulcerative colitis, Uveitis, Weight loss, Thyroiditis, Generalize...	ORPHA:171
Proteus Syndrome	Decreased muscle mass, Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Re...	ORPHA:744
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Attention deficit hyperactivity disorder, Neut...	OMIM:227646
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Renal salt wasting, Long penis, Testicular adrenal rest tumor, Elevated urinary epinephrine...	ORPHA:90794
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital d...	ORPHA:199
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, Urethral at...	ORPHA:564
Jacobsen Syndrome	Micrognathia, Short neck, Flexion contracture, U-Shaped upper lip vermilion, Thrombocytopenia	OMIM:147791
Sarcoidosis, Susceptibility To, 1	Anorexia, Iridocyclitis, Bronchiectasis, Hypercalciuria, Uveitis, Weight loss, Arthritis, Inflamm...	OMIM:181000
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Cryptorchidism, Abnormality o...	OMIM:249000
Kikuchi-Fujimoto Disease	Anorexia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, ...	ORPHA:50918
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,...	ORPHA:857
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Thymic Carcinoma	Weight loss	ORPHA:99868
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss	ORPHA:2902
Infection-Related Hemolytic Uremic Syndrome	Anuria, Pneumonia, Myocarditis, Pancreatitis, Oliguria, Septic arthritis, Acute kidney injury, Ne...	ORPHA:544482
Rett Syndrome	Skeletal muscle atrophy, Stereotypical hand wringing, Cachexia, Bruxism	OMIM:312750
Tetrasomy 12P	Cachexia	ORPHA:884
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Usher Syndrome	Myopathy	ORPHA:886
Leber Optic Atrophy	Myopathy	OMIM:535000
Celiac Disease, Susceptibility To, 1	Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive	OMIM:212750
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Hepatosplenomegal...	ORPHA:51
Osteosarcoma	Weight loss	ORPHA:668
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Carious teeth, Thrombocytopenia, Premature loss of teeth, O...	OMIM:305000
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Failure to thrive, Weight loss	ORPHA:92050
Pneumocystosis	Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Weight loss	ORPHA:723
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss...	ORPHA:29207
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Malignant Atrophic Papulosis	Peritonitis, Arteritis, Abnormality of the lower urinary tract, Weight loss	ORPHA:679
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Dysphagia, Slender build	OMIM:603041
Friedreich Ataxia	Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity	OMIM:229300
Cardiomyopathy, Familial Hypertrophic, 4	Myopathy	OMIM:115197
Gerstmann-Straussler Disease	Lower limb muscle weakness, Aggressive behavior, Weight loss	OMIM:137440
Bronchial Neuroendocrine Tumor	Pneumonia, Anorexia, Weight loss	ORPHA:97287
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
Medullary Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:1332
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydron...	ORPHA:93271
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy...	OMIM:134780
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Cryptorchidism, ...	OMIM:312870
Late-Onset Isolated Acth Deficiency	Anorexia, Hepatitis, Weight loss, Failure to thrive, Hashimoto thyroiditis	ORPHA:199299
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
X-Linked Creatine Transporter Deficiency	Hyperactivity, Self-mutilation, Cachexia	ORPHA:52503
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Hemivertebrae, Cleft p...	OMIM:164210
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Hepatic cysts, Weight loss	ORPHA:100085
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Abnormal repetitive mannerisms, Proteinuria	OMIM:616682
Refractory Celiac Disease	Inflammatory abnormality of the skin, Weight loss	ORPHA:398063
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Lower limb amyotrophy, L...	OMIM:300257
Camurati-Engelmann Disease	Skeletal muscle atrophy, Facial palsy, Cachexia, Anorexia, Urinary retention, Slender build	ORPHA:1328
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Esophagitis, Weight loss	ORPHA:913
Zygomycosis	Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton...	ORPHA:73263
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Scol...	ORPHA:2072
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Recurrent pneumonia, Elbow flexion contracture, Limb muscle weakness, Wris...	ORPHA:1900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovitis, Enthesitis, U...	ORPHA:85408
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Nephrolithiasis, Anorexia, Weight loss	ORPHA:652
Acute Liver Failure	Hyperammonemia, Euphoria, Depression, Agitation, Emotional lability, Thrombocytopenia	ORPHA:90062
Infantile Krabbe Disease	Failure to thrive, Shoulder girdle muscle weakness, Cachexia	ORPHA:206436
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Knee flexion contracture, Dysphagi...	OMIM:606170
Neuroendocrine Tumor Of The Colon	Anorexia, Weight loss	ORPHA:100080
Short Syndrome	Weight loss	ORPHA:3163
Johanson-Blizzard Syndrome	Joint laxity, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splenomega...	OMIM:243800
Nodular Non-Suppurative Panniculitis	Panniculitis, Inflammatory abnormality of the eye, Weight loss	ORPHA:33577
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,...	ORPHA:2052
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia	OMIM:175500
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Eczema, Ker...	OMIM:308205
Lynch Syndrome	Flexion contracture, Attention deficit hyperactivity disorder, Weight loss	ORPHA:144
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Neuroendocrine Tumor Of The Rectum	Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Weight loss	ORPHA:100082
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi...	ORPHA:31204
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Weight loss	ORPHA:221098
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation, Small for gestational age, Weight loss	ORPHA:424
Budd-Chiari Syndrome	Peritonitis, Cholecystitis, Weight loss	ORPHA:131
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media	OMIM:608710
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Short neck, M...	OMIM:163950
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Immunodeficiency 31C	Skeletal muscle atrophy, Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous candidiasis...	OMIM:614162
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
African Trypanosomiasis	Renal insufficiency, Pericarditis, Urinary incontinence, Aggressive behavior, Keratitis, Myocardi...	ORPHA:3385
Wolman Disease	Cachexia	ORPHA:75233
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Facial palsy, Cryptorchidism, Elbow flexion contracture, Renal cyst	OMIM:113620
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Irritability, ...	ORPHA:51608
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Cryptorchidis...	ORPHA:261537
Mowat-Wilson Syndrome	Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvi...	ORPHA:2152
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Mucolipidosis Type Ii	Hip contracture, Diastasis recti, Knee flexion contracture, Weight loss, Otitis media, Left ventr...	ORPHA:576
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Acute colitis, Weight loss	ORPHA:67
Gallbladder Neuroendocrine Tumor	Cholecystitis, Anorexia, Weight loss	ORPHA:100086
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Acne, Anorexia, Increased body weight, Recurrent cutaneous fung...	ORPHA:99889
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Weight loss	ORPHA:99819
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Cryptorchidis...	ORPHA:261552
Poems Syndrome	Weight loss	ORPHA:2905
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Dermatomyositis	Pericarditis, Myocarditis, Weight loss, Arthritis, Inflammatory myopathy	ORPHA:221
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Anorexia, Bronchiectas...	OMIM:619381
Neuroendocrine Tumor Of Stomach	Anorexia, Weight loss	ORPHA:100075
Unilateral Polymicrogyria	Abnormal posturing, Pseudobulbar paralysis	ORPHA:268943
Roberts-Sc Phocomelia Syndrome	Hypospadias, Ankle flexion contracture, Cryptorchidism, Long penis, Elbow flexion contracture, Ho...	OMIM:268300
Carney-Stratakis Syndrome	Dysphagia, Weight loss	ORPHA:97286
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Inflammation of the large...	OMIM:301074
Polycythemia Vera	Weight loss	ORPHA:729
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia, Anorexia	ORPHA:1969
Familial Pancreatic Carcinoma	Anorexia, Weight loss	ORPHA:1333
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Proteinuria, Nephrotic syndrome, Multiple renal cysts,...	ORPHA:79318
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Glucagonoma	Stomatitis, Skin rash, Anorexia, Weight loss	ORPHA:97280
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Leptospirosis	Thrombocytopenia, Hyperproteinemia, Anorexia	ORPHA:509
Pallister-Killian Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Flexion contracture, Obesity, Renal...	OMIM:601803
Pancreatic Triacylglycerol Lipase Deficiency	Keratoconjunctivitis sicca, Colitis, Weight loss	ORPHA:309031
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Klatskin Tumor	Weight loss	ORPHA:99978
Ppoma	Anorexia, Weight loss	ORPHA:97278
Somatostatinoma	Anorexia, Weight loss	ORPHA:97283
Grfoma	Anorexia, Weight loss	ORPHA:97261
Vipoma	Anorexia, Weight loss	ORPHA:97282
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Marfan Syndrome	Skeletal muscle atrophy, Arthralgia/arthritis, Cachexia, Attention deficit hyperactivity disorder...	ORPHA:558
Familial Thrombocytosis	Weight loss	ORPHA:71493
Tropical Pancreatitis	Chronic calcifying pancreatitis, Weight loss	ORPHA:103918
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Malt Lymphoma	Posterior uveitis, Weight loss	ORPHA:52417
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Osteoarthritis, Uveitis, Macroglossia, Chronic otitis media, S...	ORPHA:828
Seckel Syndrome	Cachexia	ORPHA:808
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Osteoarthritis, Weight loss	ORPHA:740
Pancreatoblastoma	Weight loss	ORPHA:677
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Friedreich Ataxia 2	Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity	OMIM:601992
Norrie Disease	Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Fail...	ORPHA:649
Tropical Endomyocardial Fibrosis	Myocardial calcification, Cachexia	ORPHA:75565

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 Pdss2

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 Pdss2.

No publications found that use IMPC mice or data for Pdss2.

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

MGI Allele	Allele Type	Produced
Pdss2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pdss2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pdss2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	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: Pdss2 MGI:1918615

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

Echo

Embryo LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Pdss2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data