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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
thrombocytopenia	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.28×10^-06
embryonic lethality prior to organogenesis	Pdss2^{tm1b(EUCOMM)Hmgu}	HOM	E9.5	0.00
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
decreased thigmotaxis	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.14×10^-06
embryonic lethality prior to tooth bud stage	Pdss2^{tm1b(EUCOMM)Hmgu}	HOM	E12.5	0.00
abnormal tooth morphology	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.77×10^-09
cataract	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.52×10^-05
increased total body fat amount	Pdss2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.47×10^-06
preweaning lethality, complete penetrance	Pdss2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

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	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 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)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 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)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	50% (1 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 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.

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Embryo LacZ

LacZ images wholemount

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Echo

M-Mode Images

32 Images

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Adult LacZ

LacZ Images Wholemount

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Auditory Brain Stem Response

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

4 Images

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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 (2010 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		Proteinuria, Nephrotic syndrome, 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	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione...	OMIM:618660
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Muscle fiber atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Incre...	ORPHA:228302
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Decreased activity of mitochondrial complex IV, Myopathy, Elevated circulating ...	OMIM:255100
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity	OMIM:620425
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Claw hand deformity, Distal l...	OMIM:614455
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti...	OMIM:603860
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Hepatic failure, Stage 5 chronic kidney disease, Decreased plasma free carnitine...	ORPHA:157
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary...	ORPHA:93101
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr...	OMIM:618349
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Exercise-induced myoglobinu...	ORPHA:368
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria	OMIM:606996
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Red-brown urine, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea...	ORPHA:228305
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Nephronophthisis-Like Nephropathy 2	Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata...	OMIM:619468
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi...	OMIM:616629
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Decreased glom...	ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Nephronophthisis 9	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts	OMIM:613824
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Hepatic failure, Dicarboxylic aciduria, Decreased plasma free carnitine, Renal i...	ORPHA:228308
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the ma...	ORPHA:313892
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Nocturia, Weight loss, Anorexia	ORPHA:178029
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia, Accelerated skeletal maturation, U-Shaped upper lip vermilion	OMIM:129850
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re...	ORPHA:2260
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ...	OMIM:614376
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile acid concentration	OMIM:619256
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Decreased body weight, Proteinuria, Motor stereotypy, Nephrot...	OMIM:618347
Cystinosis	Nephropathy, Aminoaciduria, Polydipsia, Failure to thrive, Renal insufficiency, Portal hypertensi...	ORPHA:213
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Becker Muscular Dystrophy	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Abnormal urinar...	ORPHA:98895
Galactosemia I	Aminoaciduria, Galactosuria, Failure to thrive, Decreased liver function, Elevated circulating as...	OMIM:230400
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in...	OMIM:617595
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Rhabdomyolysis, Elevated circulating creatine kinase...	OMIM:232600
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Congenital Amegakaryocytic Thrombocytopenia	Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n...	ORPHA:3319
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo...	OMIM:256300
Bardet-Biedl Syndrome 16	Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disease, Renal insufficie...	OMIM:615993
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Proximal muscle weakness in upper limbs, Elevated circulating hepa...	ORPHA:99845
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Renal Glucosuria	Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria	OMIM:233100
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Hereditary Coproporphyria	Nephropathy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Da...	ORPHA:79273
Rotor Syndrome	Conjunctival icterus, Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Blue Diaper Syndrome	Increased body weight, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration,...	ORPHA:94086
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Skeletal muscle atrophy, Decreased activity of mitochondrial ...	OMIM:616239
Aldh18A1-Related De Barsy Syndrome	Cataract, Joint hypermobility	ORPHA:35664
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Amegakaryocytic thrombocytopenia	ORPHA:71289
Ochoa Syndrome	Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena...	ORPHA:2704
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio...	OMIM:618469
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:614582
Mitochondrial Myopathy With Diabetes	Weakness of orbicularis oculi muscle, Decreased activity of mitochondrial complex IV, Limb muscle...	OMIM:500002
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakness of facial musculatur...	ORPHA:352447
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Ragged-red muscle fibers, Elevated circulati...	OMIM:607426
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Decreased circulating renin...	ORPHA:320
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Acquired Partial Lipodystrophy	Hepatic steatosis, Myopathy, Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Myositis, Increased infla...	ORPHA:183
Keratoconus Posticus Circumscriptus	Keratoconus, Cleft upper lip, Limited elbow extension and supination, Short neck, Central posteri...	OMIM:244600
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Polyuria	OMIM:222100
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Aarskog-Scott Syndrome	Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of tee...	ORPHA:915
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Motor stereotypy, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypo...	OMIM:619428
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mi...	OMIM:609560
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen...	OMIM:620010
Nephronophthisis 11	Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5...	OMIM:613550
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc...	ORPHA:457050
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr...	ORPHA:567544
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Protei...	ORPHA:93126
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Dna2-Related Mitochondrial Dna Deletion Syndrome	Slender build, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle...	ORPHA:352470
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Attention defic...	ORPHA:99013
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Carnitine Deficiency, Myopathic	Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy	OMIM:212160
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Hepatomegaly, Prolonged neonatal jaun...	OMIM:618892
Glycogen Storage Disease X	Renal insufficiency, Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentration...	OMIM:261670
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight...	OMIM:619487
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617575
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Iris coloboma, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
East Syndrome	Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower limb muscl...	ORPHA:199343
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice	ORPHA:234
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva...	OMIM:609115
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Bardet-Biedl Syndrome 9	Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity	OMIM:615986
Distal Myopathy, Welander Type	Rimmed vacuoles, Mildly elevated creatine kinase, Distal upper limb amyotrophy, Foot dorsiflexor ...	ORPHA:603
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Hijazi-Reis Syndrome	Iris coloboma, Hyperbilirubinemia, Astigmatism, Ankle clonus, Motor stereotypy	OMIM:301094
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Increased level of methylsuccinic acid in urine, Hepatic steatosis, Myopathy, ...	ORPHA:26792
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Senior-Loken Syndrome 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu...	OMIM:606995
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria	OMIM:619063
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Bardet-Biedl Syndrome 17	Polydipsia, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis	OMIM:615994
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Failure to thr...	ORPHA:223
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial...	OMIM:617030
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hepatomegaly, Pancreat...	OMIM:251000
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Green urine, Decreased liver function	OMIM:614156
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro...	OMIM:617006
Spinal Muscular Atrophy, X-Linked 2	Arthrogryposis multiplex congenita, Multiple joint contractures, Myopathy, Spinal muscular atroph...	OMIM:301830
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Failure to thrive, Enterocolitis, Nephrotic syndrome, Mild pr...	OMIM:301108
Nail-Patella-Like Renal Disease	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:2613
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Macr...	ORPHA:2916
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu...	OMIM:162000
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep...	OMIM:608709
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Myopathy, Hematuria, Weight loss, Hepatomegaly, Dy...	OMIM:219800
Bethlem Myopathy 1A	Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra...	OMIM:158810
Lead Poisoning	Chronic kidney disease, Skin rash, Renal tubular dysfunction, Attention deficit hyperactivity dis...	ORPHA:330015
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul...	ORPHA:18
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Vertebral f...	OMIM:606612
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abnormal fear-induced behavior, Purple urine, Increased urinary porpho...	ORPHA:100924
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Phosphoethanolaminuria, Myopathy	OMIM:241510
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ...	OMIM:113000
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:37042
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Decreased activity of mi...	OMIM:255125
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Dark urine	OMIM:301015
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration	OMIM:189800
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration...	OMIM:619868
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg...	ORPHA:611
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Attention deficit hyperactivity disorder, Camptodactyly, Abnormality of the kidney, Tubulointerst...	ORPHA:459061
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Decreased glomerular filtration ...	OMIM:602522
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Developmental And Epileptic Encephalopathy 73	Cataract, Delayed skeletal maturation, Inguinal hernia, Irritability, Flexion contracture, Restle...	OMIM:618379
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra...	ORPHA:42
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Abnormal urinary color	ORPHA:56425
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency...	ORPHA:93552
Nemaline Myopathy 6	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr...	OMIM:609273
Myopathy, Distal, 4	Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ...	OMIM:614065
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Failure to thrive, Decreased activity of mitochondrial compl...	OMIM:612075
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Intrinsic hand mus...	ORPHA:399081
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Polydipsia, Polyuria, Megacystis	OMIM:125800
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Polydipsia, Polyuria, Megacystis	OMIM:304800
Otodental Syndrome	Cataract, Microcornea, Carious teeth, Periodontitis, Abnormality of canine, Abnormal dental pulp ...	ORPHA:2791
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Abnormality of end...	ORPHA:93111
Al Amyloidosis	Macroglossia, Abnormality of the liver, Renal insufficiency, Proteinuria, Renal interstitial amyl...	ORPHA:85443
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Lysinuric Protein Intolerance	Hepatosplenomegaly, Oral aversion, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubulointerstitia...	ORPHA:470
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Hepatic steatosis...	OMIM:243910
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s...	OMIM:178110
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss, Pollakisuria	ORPHA:95626
Pyle Disease	Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of...	OMIM:265900
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy, Decreased activity of mitochondrial respiratory chain	OMIM:613076
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly...	OMIM:613496
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir...	OMIM:605820
Sengers Syndrome	Decreased activity of mitochondrial complex IV, Myopathy, 3-Methylglutaconic aciduria, Decreased ...	OMIM:212350
Kbg Syndrome	Long philtrum, Delayed skeletal maturation, Persistent open anterior fontanelle, Macrodontia, Oli...	ORPHA:2332
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Macroglossia, Abnormal urinary odor, Dysphagia	ORPHA:412217
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Congenital bilateral hip dislocation, Kyphosis, Hyperactivity	ORPHA:85288
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb-gir...	ORPHA:206549
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Elevated circulating creatine kinase concentration, Joint hypermobility, Kyphos...	OMIM:614727
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c...	ORPHA:254864
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Axial Osteomalacia	Renal cyst, Polycystic liver disease, Myopathy, Elevated circulating creatine kinase concentration	OMIM:109130
Atelis Syndrome 1	Cataract, Carious teeth, Long philtrum, Leukopenia, Attention deficit hyperactivity disorder, Lum...	OMIM:620184
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Hartnup Disease	Infectious encephalitis, Skin rash, Neutral hyperaminoaciduria, Abnormal urinary color	ORPHA:2116
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Elevated...	OMIM:212140
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Polydipsia, Failure to thrive, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Po...	OMIM:239200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Neonatal hyperbilirubinemia, Delayed skeletal maturation	ORPHA:3363
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Myopathy	ORPHA:2571
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:276621
Phenylketonuria	Cataract, Depression, Self-mutilation, Irritability, Maternal hyperphenylalaninemia, Attention de...	OMIM:261600
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis	OMIM:619603
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu...	ORPHA:439232
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Failure to thrive, Rhabdomyolysis, ...	OMIM:263800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St...	ORPHA:567546
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color	ORPHA:90037
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Failure to thrive, Intrahepatic biliary dysgenesis, Hydronephrosis, Prolonged neon...	OMIM:214100
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Neonatal hyperbilirubinemia, Dental crowding, Depression, Thick lower ...	ORPHA:293939
Congenital Disorder Of Glycosylation, Type Iid	Elevated circulating aspartate aminotransferase concentration, Myopathy, Decreased muscle mass, E...	OMIM:607091
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Mitochondrial Complex I Deficiency, Nuclear Type 25	Nemaline bodies, Decreased activity of mitochondrial complex I, Failure to thrive, Myopathy	OMIM:618246
Kniest Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, S...	ORPHA:485
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp...	OMIM:601775
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Advanced ossification of carpal bones,...	OMIM:618363
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Abnormal palate morphology, Pseudobulbar par...	ORPHA:208441
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Galactose Epimerase Deficiency	Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice	ORPHA:79238
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Failure to thrive, Gout, Renal tubular ...	ORPHA:358
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Abnormal urinary color	ORPHA:90036
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec...	ORPHA:3467
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Chilblains, I...	OMIM:619858
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Elevated circula...	ORPHA:90291
Tubulointerstitial Nephritis And Uveitis Syndrome	Scleritis, Weight loss, Anorexia, Tubulointerstitial nephritis, Aminoaciduria, Sterile pyuria, Be...	ORPHA:91500
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion...	ORPHA:83451
Acute Intermittent Porphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti...	ORPHA:79276
Kahrizi Syndrome	Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma, Tho...	OMIM:612713
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract, Delayed skeletal maturation, Thick lower lip vermilion, Micrognathia, Short philtrum, S...	OMIM:608227
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hep...	OMIM:105200
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m...	ORPHA:47159
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Increased adipose tissue, Elevated circulating creatine kinase concentration, Hyperlord...	OMIM:617404
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne...	OMIM:248250
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Jaundice, Hepatosplenomegaly, Myopathy	ORPHA:33574
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Elevated circulating hepatic tr...	ORPHA:340
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation...	ORPHA:30391
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Corneal opacity	ORPHA:1980
Koolen-De Vries Syndrome	High, narrow palate, Cataract, Abnormality of the dentition, Kyphosis, Abnormal dental enamel mor...	ORPHA:96169
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Decreased activity of mitochondrial complex I, Failure to thrive, Myopathy	OMIM:618237
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva...	OMIM:609524
Joubert Syndrome 20	Renal cyst	OMIM:614970
Otopalatodigital Syndrome Type 1	Limitation of joint mobility, Elbow dislocation, Synostosis of carpal bones, Hypoplastic frontal ...	ORPHA:90650
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Salt craving, Polyuria, Renal salt was...	OMIM:612780
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Oral ulcer, Irritability, Thrombocytopenia, N...	OMIM:229050
Alpha-Mannosidosis	Synostosis of joints, Cataract, Craniofacial hyperostosis, Dental malocclusion, Delayed skeletal ...	ORPHA:61
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short neck, Cleft palate, Abnormal vertebral segme...	ORPHA:66637
Graft Versus Host Disease	Hemophagocytosis, Fasciitis, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren contracture, Oral ...	ORPHA:39812
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Recurrent pneumonia, Splenomegaly, P...	OMIM:617303
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Fused cerv...	OMIM:214300
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus, Decreased HDL cholesterol concentration	OMIM:618463
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Adult-Onset Nemaline Myopathy	Nemaline bodies, Increased variability in muscle fiber diameter, Neuromuscular dysphagia, Upper l...	ORPHA:171442
Leber Hereditary Optic Neuropathy	Mitochondrial respiratory chain defects, Myopathy	ORPHA:104
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Cleft upper lip, Micrognathia, Increased susceptibility to fractures, Multiple...	OMIM:312150
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Chromosome breakage	OMIM:613390
Parathyroid Carcinoma	Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Ne...	ORPHA:143
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co...	OMIM:616471
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ...	OMIM:613404
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, General...	ORPHA:171439
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias	OMIM:231060
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration	OMIM:609500
Hereditary Central Diabetes Insipidus	Weight loss, Polydipsia	ORPHA:30925
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum...	ORPHA:2345
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,...	ORPHA:411634
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:124000
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Splenomegaly, Abnormal urinary color	ORPHA:90033
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Long philtrum, Micrognathia, Acetabular dysplasia, Thin upper lip vermilion, Cervical C2/C3 verte...	OMIM:616549
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Increased circulating iron concentration, Increased mean corpuscular volume, I...	ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polydipsia, Polyuria, Decreased circulating renin level	OMIM:613677
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis...	ORPHA:57
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:614883
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,...	OMIM:143880
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A...	ORPHA:158684
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:29072
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Pneumonia, Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia ...	ORPHA:247691
Spondylocostal Dysostosis 5	Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:122600
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ...	ORPHA:33543
Cocaine Intoxication	Acute kidney injury, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Hematuri...	ORPHA:90068
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Abnormality of mitochondrial metabolism, Proteinuria	ORPHA:1192
Infantile Nephropathic Cystinosis	Aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyper...	ORPHA:411629
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an...	OMIM:235700
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Frontometaphyseal Dysplasia 1	Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Absent frontal...	OMIM:305620
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Thoracic kyphosis, Micrognathia, Hyperactivity, Thick vermilion border,...	ORPHA:530983
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Failure to th...	ORPHA:1830
Spondylocarpotarsal Synostosis Syndrome	Cataract, Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption of permanent t...	OMIM:272460
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co...	ORPHA:119
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr...	ORPHA:84090
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Umbilical hernia, Delayed cranial suture closure, Delayed proximal f...	ORPHA:95717
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy, Dysphagia	OMIM:147421
Nemaline Myopathy 2	Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Dysphagia, C...	OMIM:256030
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:100024
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Hypercalciuria, Polydipsia	ORPHA:251274
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Tyrosinemia, Type I	Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h...	OMIM:276700
Verheij Syndrome	Retrognathia, Long philtrum, Joint hypermobility, Thin upper lip vermilion, Short neck, Hemiverte...	OMIM:615583
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com...	OMIM:500013
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Nephrolithiasis	ORPHA:369929
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of forearm, Congenital th...	OMIM:616738
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Hyperlordosis, Vertebral fusion, Achilles ten...	OMIM:607155
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Delayed skeletal maturation, Widely spaced teeth, Herni...	OMIM:601216
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Aicardi-Goutieres Syndrome 5	Flexion contracture, Arthropathy, Thrombocytopenia, Irritability	OMIM:612952
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Extramedullary hematopoiesis, Long philtrum, Hepatosplenomegaly, Hyperbilirubinemia, P...	OMIM:259720
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Achilles tendon calcification, Polydipsia, Polyuria, Nephrolithiasis	OMIM:617994
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Abnormality of the mitochondrion, Failure to thrive, Myopathy	ORPHA:91130
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Myopathy...	OMIM:614922
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Polydipsi...	OMIM:241200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Infantile Sialic Acid Storage Disease	Osteopenia, Gingival overgrowth, Splenomegaly, Vacuolated lymphocytes, High palate, Conjugated hy...	OMIM:269920
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Polydipsia, ...	ORPHA:537
Galloway-Mowat Syndrome 3	Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glom...	OMIM:617729
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci...	OMIM:616278
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy	OMIM:300653
Myasthenic Syndrome, Congenital, 25, Presynaptic	Flexion contracture, Dysphagia, Myopathy, Generalized amyotrophy	OMIM:618323
Erdheim-Chester Disease	Polydipsia, Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Dysuria, ...	ORPHA:35687
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy	OMIM:208100
Congenital Myopathy With Myasthenic-Like Onset	Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur...	ORPHA:424107
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Failure to thrive, Renal tubu...	ORPHA:99885
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial comp...	OMIM:617713
Morm Syndrome	Cataract, Aggressive behavior, Hyperactivity	ORPHA:75858
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Micrognathia, Increased susceptibility to fractures, Multiple pterygia, Verteb...	OMIM:253290
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Ne...	ORPHA:99880
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Sho...	ORPHA:2522
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Imerslund-Grasbeck Syndrome 2	Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections	OMIM:618882
Adrenomyodystrophy	Abnormality of the urinary system, Failure to thrive, Megacystis, Hepatic steatosis, Myopathy	ORPHA:977
Flynn-Aird Syndrome	Cataract, Carious teeth, Joint stiffness, Increased bone density with cystic changes, Kyphoscolio...	OMIM:136300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Lathosterolosis	Cataract, Elevated circulating lathosterol concentration, Long philtrum, Thick upper lip vermilio...	OMIM:607330
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Myopathy, Decreased activity of mitochondrial complex I, Hepatomegaly, Macrove...	OMIM:618234
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Foot dorsiflexo...	OMIM:619216
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva	ORPHA:517
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Helix Syndrome	Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria	OMIM:617671
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure...	ORPHA:97362
Stuve-Wiedemann Syndrome 2	Camptodactyly, Scoliosis, Dysphagia, Thrombocytopenia	OMIM:619751
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria	OMIM:278300
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein...	ORPHA:85445
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes...	ORPHA:397744
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Facial diplegia, Foot dor...	ORPHA:329478
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae	ORPHA:1436
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Forsythe-Wakeling Syndrome	Osteoporosis, Delayed skeletal maturation, Thrombocytopenia	OMIM:613606
Mitochondrial Complex I Deficiency, Nuclear Type 21	Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Myopathy	OMIM:618242
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Obesity,...	OMIM:203800
Alkaptonuria	Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Thickened A...	OMIM:203500
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration	OMIM:160570
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplen...	OMIM:259710
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Intellectual Developmental Disorder, Autosomal Dominant 52	Downturned corners of mouth, Pica, Lumbar hyperlordosis, Open mouth, Astigmatism, Obsessive-compu...	OMIM:617796
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Osteopenia, Atypical scarring of skin, Knee dislocation, Shoulder dislocation, Atroph...	OMIM:618000
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Stiff Skin Syndrome	Cataract, Elbow flexion contracture, Knee flexion contracture, Limited shoulder movement, Lipodys...	OMIM:184900
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia, Obesity	ORPHA:3157
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone pain	OMIM:610539
Rigid Spine Syndrome	Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contra...	ORPHA:97244
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Decreased circulating carnitine...	ORPHA:26791
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia, Irritability	OMIM:615010
Lateral Meningocele Syndrome	Keloids, Dental crowding, Long philtrum, Umbilical hernia, Sclerosis of skull base, Micrognathia,...	OMIM:130720
Whipple Disease	Polydipsia, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Cachexia, Arthritis, A...	ORPHA:3452
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Autosomal Recessive Stickler Syndrome	Platyspondyly, Cataract, Micrognathia, Genu valgum, Malar flattening, Astigmatism, Joint hypermob...	ORPHA:250984
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentr...	OMIM:612933
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Prote...	ORPHA:77297
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Polydipsia, Keratitis, Failure to thrive...	ORPHA:525731
Koolen-De Vries Syndrome	Iris hypopigmentation, Cataract, Narrow palate, Kyphosis, Cleft upper lip, Widely spaced teeth, S...	OMIM:610443
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia, Delayed eruption of teeth, Delayed skeletal maturation, Micrognathia...	ORPHA:73272
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:242900
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Elevated...	OMIM:609015
Intermediate Uveitis	Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva...	OMIM:160565
Usher Syndrome Type 1	Iris hypopigmentation, Cataract, Depression, Abnormal dental enamel morphology	ORPHA:231169
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Pancreatitis...	ORPHA:521219
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Decreased activity of mitochondrial complex I, Methylmalonic acid...	OMIM:615578
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticu...	OMIM:232800
Multiminicore Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w...	ORPHA:598
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, Thrombocytopenia, Anemia, Abn...	ORPHA:848
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Anorexia	ORPHA:52416
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Joubert Syndrome 18	Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia, Camptodactyly	OMIM:614815
Wolfram Syndrome	Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, A...	ORPHA:3463
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs...	ORPHA:1878
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Hyperparathyroidism 2 With Jaw Tumors	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Facial pals...	OMIM:300580
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Congenital diaphragmatic hernia, Renal hypoplasia/ap...	ORPHA:1166
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Elevat...	OMIM:615595
Familial Cold Urticaria	Conjunctivitis, Polydipsia, Arthritis	ORPHA:47045
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Oral-pharyngeal dysphagia, Distal lower limb amyotrophy,...	ORPHA:98897
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m...	OMIM:603034
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Congenital Myopathy 4B, Autosomal Recessive	Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D...	OMIM:609284
Otopalatodigital Syndrome Type 2	Cataract, Scoliosis, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodact...	ORPHA:90652
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Failure to thrive, Ragged-...	ORPHA:550
Babesiosis	Depression, Limitation of joint mobility, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, H...	ORPHA:108
Oculopharyngeal Muscular Dystrophy	Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent...	ORPHA:270
Christian Syndrome	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae	OMIM:309620
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ...	ORPHA:59135
Leishmaniasis	Hypoalbuminemia, Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Abnormal macrophage m...	ORPHA:507
Preeclampsia	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:275555
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Merrf	Ragged-red muscle fibers, Myopathy	ORPHA:551
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall...	ORPHA:834
Primary Sjögren Syndrome	Arteritis, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocyt...	ORPHA:289390
Acetyl-Coa Carboxylase-Alpha Deficiency	Myopathy	OMIM:613933
Rapidly Involuting Congenital Hemangioma	Avascular necrosis, Lipoatrophy, Thrombocytopenia	ORPHA:141184
Immunodeficiency 114, Folate-Responsive	Carious teeth, Increased circulating ferritin concentration, Lymphopenia, Aphthous ulcer, Lip fis...	OMIM:620603
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Thrombocytopenia	ORPHA:67048
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Hyperbilirubinemia, Hernia	ORPHA:101009
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Leigh Syndrome	Decreased activity of mitochondrial complex IV, 3-Methylglutaconic aciduria, Myopathy, Decreased ...	ORPHA:506
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Cataract, Hypoplasia of the odontoid process, Malar flattening, Irregularity of ve...	ORPHA:85172
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Myopathy	OMIM:545000
Hypophosphatasia, Adult	Chondrocalcinosis, Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of p...	OMIM:146300
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic patella, Congenit...	OMIM:265000
Isolated Glycerol Kinase Deficiency	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscular dystrophy, Elevated circulating hepatic transaminase con...	ORPHA:369840
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Autosomal Recessive Progressive External Ophthalmoplegia	Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulat...	ORPHA:254886
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Failure to thrive, Renal cyst, Cirrhosis...	OMIM:602579
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Thin upper lip vermilion, Aggressive behavior, Attention deficit hyperactivit...	OMIM:619075
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis	ORPHA:375
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Attention de...	ORPHA:261222
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag...	OMIM:166300
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Weakness of...	ORPHA:254875
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,...	ORPHA:2970
Lymphangioleiomyomatosis	Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm	ORPHA:538
Mitochondrial Complex I Deficiency, Nuclear Type 14	Decreased activity of mitochondrial complex I, Myopathy	OMIM:618236
Wildervanck Syndrome	Lens subluxation, Short neck, Fused cervical vertebrae	ORPHA:3456
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red...	OMIM:266200
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia, Developmental cataract	OMIM:601815
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Dysphagia	ORPHA:930
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Kyphoscoliosis, Aggressive behavior, Hyperactivity,...	ORPHA:3077
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Neutropenia, Anemia,...	OMIM:159550
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Eleva...	OMIM:614399
Diencephalic Syndrome	Cachexia, Long penis, Decreased body weight	ORPHA:1672
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Wilson Disease	Depression, Kayser-Fleischer ring, Pathologic fracture, Bone pain, Splenomegaly, Joint swelling, ...	ORPHA:905
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Irritability, Increased serum bile acid concentration	OMIM:619685
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Usher Syndrome Type 2	Iris hypopigmentation, Cataract, Carious teeth, Depression, Abnormal dental enamel morphology, Mi...	ORPHA:231178
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contracture, Skel...	ORPHA:3208
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency	OMIM:245900
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Type 2 muscle fiber predominance, Organic aciduria, Skeletal muscle atrophy...	OMIM:619743
Cranioectodermal Dysplasia 1	Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failu...	OMIM:218330
Specific Granule Deficiency 2	Tooth malposition, Conical tooth, Osteopenia, Absent neutrophil specific granules, Amelogenesis i...	OMIM:617475
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Cachexia...	OMIM:613662
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Delayed skeletal maturation, Elevated circulating propionylcarnitine concentration, Micrognathia,...	OMIM:614857
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne...	OMIM:620249
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Joint contracture of the hand, Renal insufficiency, Proteinur...	OMIM:251300
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Leukocytosis, Hyponatremia, Thrombocytopenia, Anterior open-bite malocclusion	ORPHA:83601
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232240
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Obesity, Periodontitis	OMIM:619269
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Pinguecula, Anorexia, Elevate...	ORPHA:77259
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy	ORPHA:713
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentr...	ORPHA:2364
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Central Core Disease	Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin...	ORPHA:597
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Foot d...	ORPHA:399103
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,...	OMIM:613686
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Sarcoidosis	Nephrocalcinosis, Hepatic failure, Decreased liver function, Parotitis, Renal insufficiency, Port...	ORPHA:797
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans...	OMIM:216360
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Limb muscle weakness, Dysphagia, Myopathy, Type 2 muscle fiber atrophy	OMIM:605809
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Glycogen Storage Disease Iii	Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Myo...	OMIM:232400
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Transketolase Deficiency	Increased level of ribose in urine, Self-injurious behavior, Renal cyst, Attention deficit hypera...	ORPHA:488618
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Shoulder girdle muscle weakness, Slender build, Myopathy, Elevated circulating creatine kinase co...	OMIM:615156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Dystonia 31	Dysphagia, Abnormal posturing	OMIM:619565
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Larsen Syndrome	Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Cleft upper ...	OMIM:150250
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Attrv30M Amyloidosis	Nephropathy, Weight loss, Abnormal renal physiology	ORPHA:85447
Gorlin Syndrome	Abnormal vertebral morphology, Cataract, Mandibular prognathia, Carious teeth, Vertebral wedging,...	ORPHA:377
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora...	ORPHA:199306
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227990
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:300179
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Thrombotic Thrombocytopenic Purpura	Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency	ORPHA:54057
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Elevated circulating creati...	OMIM:602541
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Renal cyst, Arthrogryposis multiplex congenita, Renal dysplasia	OMIM:236500
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Thoracic hemivertebrae, Micrognathia, Short neck, Thoracolumbar s...	OMIM:268310
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Aids Wasting Syndrome	Cachexia, Weight loss, Skeletal muscle atrophy, Anorexia	ORPHA:90081
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Tooth malposition, Ectopia lentis, Delayed eruption of teeth, Long philtru...	ORPHA:2712
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Acute rhabdomyolysis, Elevated circulating creatine kinase co...	OMIM:268200
Nemaline Myopathy 7	Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f...	OMIM:610687
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Dysphagia, Myopathy	OMIM:201550
Stickler Syndrome Type 1	Platyspondyly, Cataract, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis m...	ORPHA:90653
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Elevated circulating hepat...	OMIM:118450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Renal dysplasia, Elbow flexion contractu...	OMIM:608836
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:157973
Rabson-Mendenhall Syndrome	Macroglossia, Nephrocalcinosis, Long penis, Polydipsia	ORPHA:769
Panhypophysitis	Hashimoto thyroiditis, Polydipsia, Hyposthenuria	ORPHA:95513
Cyclic Neutropenia	Cellulitis, Periodontitis, Atrophy of alveolar ridges, Lymphopenia, Cyclic neutropenia, Oral ulce...	ORPHA:2686
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Nephrotic syndrome, Small for gestati...	OMIM:215250
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Downturned corners of mouth, Long philtrum, Narrow mouth, Joint hypermobility, Cervical C2/C3 ver...	OMIM:617333
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts	OMIM:263630
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia	ORPHA:95715
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Glycosu...	OMIM:616026
Zebra Body Myopathy	Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo...	ORPHA:97240
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227982
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Cervical spinal canal stenosis, Genu valgum, Narrow mouth, Developmental cataract, Thor...	ORPHA:436174
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,...	ORPHA:288
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Lower limb muscle weakness, 3-Methylglutaconic aciduria, Rhabdomyolysis, Elevated circ...	OMIM:251900
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis	OMIM:607944
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Oral ulcer, Hernia, Acu...	OMIM:617052
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Pelger-Huet Anomaly	Abnormality of the dentition, Giant platelets, Umbilical hernia, Gingival overgrowth, Median clef...	OMIM:169400
Barth Syndrome	Skeletal myopathy, Failure to thrive, 3-Methylglutaconic aciduria, Abnormal mitochondrial morphology	OMIM:302060
Bernard-Soulier Syndrome	Gingival bleeding, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggreg...	OMIM:231200
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Downturned corners of mouth, Delayed skeletal maturation, Enamel hypoplasia, Neutropenia	ORPHA:2643
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Pseudohypoparathyroidism Type 1B	Cataract, Depression, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Increase...	ORPHA:94089
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,...	ORPHA:353327
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Polyarticular arthritis, Lymphopenia, Oral ulcer, Thrombocytopenia, Hemolytic anemia	OMIM:616744
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Joint contracture of the hand, Failure to thrive, Abnormality of the mitochondrion...	OMIM:214110
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Orofacial cleft,...	ORPHA:3027
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigment gallstones, Thickene...	ORPHA:56
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Polycystic ovaries, Nephrolithiasis, Proteinuri...	ORPHA:79259
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, Pancy...	OMIM:259700
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Depression, Astigmatism	ORPHA:231183
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Delayed cranial suture closure, Umbilical hernia, Abnormal circulati...	ORPHA:95716
Mucopolysaccharidosis, Type Iva	Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of l...	OMIM:253000
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Metatropic Dysplasia	Cataract, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enchond...	ORPHA:2635
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepatic steatosis, Myopa...	OMIM:615980
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Delayed skeletal m...	ORPHA:582
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Increased hepatic ...	OMIM:619525
Trisomy X	Attention deficit hyperactivity disorder, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Ring Chromosome 21 Syndrome	Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae	ORPHA:1445
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	OMIM:137920
Osteopetrosis, Autosomal Recessive 4	Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, An...	OMIM:611490
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Short ne...	OMIM:255800
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine...	OMIM:614300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hypoplasia of the maxilla, Cleft upper lip, Sacral dimple, Micrognathia, Gingival overgrowth, Ing...	OMIM:213980
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Abnormal vertebral segmenta...	OMIM:118100
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Flexion contracture, Facial palsy, Dysphagia	OMIM:615348
Braddock-Carey Syndrome 2	Retrognathia, Thrombocytopenia, Wide mouth, Cleft palate, Pierre-Robin sequence	OMIM:619981
Spastic Paraplegia 29, Autosomal Dominant	Hiatus hernia, Neonatal hyperbilirubinemia, Hyperactivity	OMIM:609727
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Increased connective tissue, Keratoconjunctivitis, Poikilocytosis, Unc...	ORPHA:79277
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Keratitis, Increased connective tissue, Punctate keratitis, Scarring alopecia of s...	OMIM:226670
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak...	ORPHA:2596
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Cataract, Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology...	ORPHA:1345
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:268150
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Decreased liver function, Failure to thrive, Hyperphosphaturia, Renal ...	ORPHA:436271
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Unilateral renal atrophy, Pyelonephritis, Oligozoospermia, Renal dysplasia	OMIM:314300
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Renal cyst, Camptodactyly, Micropenis, Hypospadias	OMIM:614175
Porphyria, Congenital Erythropoietic	Joint contracture of the hand, Cholelithiasis, Splenomegaly, Red urine, Jaundice, Pink urine, Hep...	OMIM:263700
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Oral ulcer, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Abnormal renal coll...	ORPHA:17
Wagro Syndrome	Cataract, Dental crowding, Aniridia, Micrognathia, Malar flattening, Emotional lability, Low frus...	OMIM:612469
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia, Irritability	OMIM:613070
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa...	OMIM:308940
Isolated Agammaglobulinemia	Cellulitis, Abnormal lymphocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Arthritis, Abnor...	ORPHA:229717
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Gen...	ORPHA:534
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Mitochondrial Complex I Deficiency, Nuclear Type 29	Failure to thrive, Mitochondrial swelling, Stage 5 chronic kidney disease, Decreased activity of ...	OMIM:618250
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Extremely elevated creatine kinase, Mildly elevated crea...	ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent...	OMIM:611307
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency	ORPHA:3327
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased...	OMIM:310300
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Mildly elevated creatine kinase, Slender build, Type 1 muscle fiber predominance...	OMIM:161800
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Braddock-Carey Syndrome 1	Camptodactyly, Enamel hypoplasia, Everted lower lip vermilion, Thrombocytopenia, Thick vermilion ...	OMIM:619980
Gaucher Disease, Type Iii	Pancytopenia, Depression, Splenomegaly, Thrombocytopenia	OMIM:231000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Denta...	ORPHA:2457
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Polyphagia, Membranoproliferative glomerulonephritis, Macroscopic hematuria...	ORPHA:251004
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Skin rash, Myopathy, Elevated c...	ORPHA:206569
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Irritability, Keratoconjunctivitis, Thrombocytopenia, Anorexia	ORPHA:79242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618992
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Keratoconjunctivitis s...	OMIM:617321
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Mody	Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large...	ORPHA:552
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae, Joint stiffness, Malar flattening, Mandibular prognathia	ORPHA:1885
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia, Camptodactyly of finger	ORPHA:2774
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the spleen, Abnormal...	ORPHA:1834
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Joint dislocation, Osteomy...	ORPHA:53
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Sinusitis, Lipodystrophy, Thrombocytopenia, Hypertriglyceridemia, Anem...	OMIM:617591
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ...	OMIM:613095
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie...	ORPHA:182050
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Retrognathia, Spinal canal stenosis, Micrognathia, Vertebral s...	ORPHA:1724
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Quadriceps muscle weakness, Failure to t...	ORPHA:254892
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Skeletal muscle atrophy, Methylmalonic aciduria, Elevated circulating creatine kin...	ORPHA:1933
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft palate, Iris coloboma, Cleft upper lip	OMIM:120433
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Osteopenia, Scoliosis, Micrognathia, Knee contracture, Epiphyseal stippling, Submucous ...	OMIM:222765
Pearson Marrow-Pancreas Syndrome	Anorexia, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Punctate keratitis, Refractory ...	OMIM:557000
Chronic Hiccup	Abnormal eating behavior, Weight loss, Abnormality of the diaphragm	ORPHA:396
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Failure to thrive, Hyperphosphaturia, Renal ...	OMIM:220110
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Achondrogenesis Type 2	Cataract, Unossified sacrum, Absent vertebral body mineralization, Delayed pubic bone ossificatio...	ORPHA:93296
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H...	ORPHA:445038
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato...	OMIM:201475
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormality of the extraocular muscles, Myositis, Keratoconjunctivitis sicca, Weight loss, Tubulo...	ORPHA:79078
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Immunodeficiency 10	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, My...	OMIM:612783
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure, Myoglobinu...	OMIM:231530
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Weight loss, Renal neoplasm	ORPHA:69077
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia, Hyperbilirubinemia	OMIM:609734
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Delayed closure of ...	OMIM:614886
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy...	OMIM:608423
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Long philtrum, Thick lower lip vermilion, Astigmatism,...	OMIM:152950
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Glandular hypospadias, Penile hypospadias, Myopathy, ...	OMIM:300219
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Ab...	ORPHA:284
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Familial Isolated Hypoparathyroidism	Nephropathy, Myopathy	ORPHA:2238
Peroxisome Biogenesis Disorder 13A (Zellweger)	Micrognathia, Posterior embryotoxon, Delayed closure of the anterior fontanelle, Increased circul...	OMIM:614887
Basal Cell Nevus Syndrome 1	Cataract, Mandibular prognathia, Vertebral wedging, Cleft upper lip, Kyphoscoliosis, Odontogenic ...	OMIM:109400
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Cataract, Congenital hip dislocation, Delayed skeletal maturation, Umbilical he...	OMIM:219150
Papa Syndrome	Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne	ORPHA:69126
Actinic Prurigo	Glomerulonephritis	OMIM:174770
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Rheumatoid arthritis, Unilateral renal hypoplasia, Renal insufficiency, Uret...	ORPHA:49041
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Glycogen Storage Disease Xii	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat...	OMIM:611881
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Stickler Syndrome, Type Ii	High, narrow palate, Cataract, Bifid uvula, Micrognathia, Malar flattening, Arthropathy, Joint hy...	OMIM:604841
Pseudopseudohypoparathyroidism	Cataract, Delayed eruption of teeth, Short neck, Enamel hypoplasia, Osteoporosis	OMIM:612463
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-li...	OMIM:256550
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Myopathy, Myofibrillar, 6	Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ...	OMIM:612954
Slc35A1-Cdg	Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arthrogryposis multiplex congenita, Micrognathia, Conjugated hyperbilirubinemia, Thrombocytopenia	OMIM:208085
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Cataract, Anisospondyly, Downturned corners of mouth, Long philtrum, Thoracic kyph...	ORPHA:163649
Bcard Syndrome	Platyspondyly, Cataract, Abnormality of the dentition, Osteopenia, Downturned corners of mouth, C...	OMIM:612394
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of...	ORPHA:95455
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures	OMIM:146200
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, P...	ORPHA:263455
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Delayed skeletal maturation, Delayed cranial suture clos...	ORPHA:90674
Fliedner-Zweier Syndrome	Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydron...	OMIM:620511
Aggressive Systemic Mastocytosis	Anorexia, Bone pain, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro...	ORPHA:98850
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Intrahepatic Cholestasis Of Pregnancy	Depression, Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Intrinsic hand m...	ORPHA:399086
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia, ...	OMIM:226990
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology, Anorexia	ORPHA:2023
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Hypocomplementemic Urticarial Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Splenomegaly, Hematuria, Proteinuria, Glomerulopath...	ORPHA:36412
Wilson Disease	Hypouricemia, Hypoalbuminemia, Sunflower cataract, Chondrocalcinosis, Kayser-Fleischer ring, Oste...	OMIM:277900
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Splenomegaly, Red urine, Scleritis, Kerat...	ORPHA:95159
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Stomatocytosis, Hemolytic anemia, Splenomegaly, Hyperkalemia, Conjuga...	OMIM:608885
Ddost-Cdg	Nephrotic range proteinuria, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:300536
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasi...	OMIM:226600
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Hyperbilirubinemia, Genu valgum, Emotional lability, Tics, High palate, Motor ster...	OMIM:619475
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal...	OMIM:615398
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Urinary bladder sphincter dysfun...	ORPHA:52430
Fanconi-Bickel Syndrome	Hypouricemia, Rickets, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Inc...	OMIM:227810
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Abnormality of th...	ORPHA:298
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Stickler Syndrome, Type I	Platyspondyly, Cataract, Bifid uvula, Joint stiffness, Micrognathia, Malar flattening, Submucous ...	OMIM:108300
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, E...	ORPHA:94080
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Widely spaced teeth, Ectopic ossification in ligament tissue, Pr...	OMIM:135100
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Splenomegaly, Joint swelling, Neutrophilia, Elevated circulating C-rea...	OMIM:612852
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Type 2 muscle fib...	OMIM:613845
Immunodeficiency 46	Anemia, Conjunctivitis, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
X-Linked Agammaglobulinemia	Cellulitis, Osteomyelitis, Hypocalcemia, Sinusitis, Thrombocytopenia, Neutropenia, Anemia, Conjun...	ORPHA:47
Stormorken Syndrome	Myopathy, Elevated circulating creatine kinase concentration, Hematuria, Asplenia, Hypoplastic sp...	OMIM:185070
Pycnodysostosis	Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Persistence of primary teeth, ...	OMIM:265800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Carious teeth, Limited hip movement, Abnormally oss...	ORPHA:93346
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Reticular Dysgenesis	Failure to thrive, Abnormality of mitochondrial metabolism, Skin rash, Weight loss, Chronic otiti...	ORPHA:33355
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Jaundice, Myopathy, Skeletal muscle hypertrophy	ORPHA:2349
Kleefstra Syndrome	Self-injurious behavior, Obesity, Vesicoureteral reflux, Renal insufficiency, Self-mutilation, Hy...	ORPHA:261494
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets	OMIM:211600
Acquired Generalized Lipodystrophy	Hepatic steatosis, Myopathy, Polycystic ovaries, Proteinuria, Cirrhosis, Hepatomegaly, Panniculit...	ORPHA:79086
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H...	ORPHA:3008
Congenital Myopathy 17	Renal hypoplasia, Failure to thrive in infancy, Ureteropelvic junction obstruction, Myopathy, Hyd...	OMIM:618975
Simple Cryoglobulinemia	Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight ...	ORPHA:91139
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Decreased activity of mitochondrial respiratory chain, Renal insufficiency, Sm...	OMIM:619147
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Knee flexion contracture, Elevated circulating cr...	OMIM:618733
Heme Oxygenase 1 Deficiency	Nephritis, Elevated circulating aspartate aminotransferase concentration, Hematuria, Proteinuria,...	OMIM:614034
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Mildly eleva...	OMIM:160150
Kbg Syndrome	Long philtrum, Delayed skeletal maturation, Macrodontia, Tented upper lip vermilion, Oligodontia,...	OMIM:148050
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Myopathy, Polycystic ovaries, Splenomegaly, Glomerulopathy, Pancreatitis, Hepa...	ORPHA:2348
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Aplasia/Hypoplasia of the patella, Thrombocytopenia, Patellar dislocation, Genu var...	ORPHA:3320
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Short neck, Zonular c...	ORPHA:168577
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis	ORPHA:2031
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca...	OMIM:613280
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Shallow acetabular fossae, Giant platelets, Long philtrum, Micrognathia, Narrow mouth...	OMIM:611209
Thrombocytopenia, Paris-Trousseau Type	Micrognathia, Thrombocytopenia	OMIM:188025
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur...	ORPHA:254361
Mohr-Tranebjaerg Syndrome	Intrinsic hand muscle atrophy, Dysphagia, Abnormal posturing	OMIM:304700
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation, Hypomimic face, Urinary incontinence, Dysphagia	ORPHA:225147
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Microcornea, Limitation of joint mobility, Interphalangeal joint contracture of ...	OMIM:151200
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Flexion contracture, Polycystic kidney dysplasia, Congenital diaphragmatic h...	OMIM:263210
Acute Promyelocytic Leukemia	Gingival bleeding, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Gingival overgrowth, Addicti...	ORPHA:520
Overlap Myositis	Rheumatoid arthritis, Abnormal circulating lipid concentration, Abnormality of connective tissue,...	ORPHA:206572
Laryngeal Neuroendocrine Tumor	Weight loss, Oral-pharyngeal dysphagia, Anorexia	ORPHA:100083
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Codas Syndrome	Cataract, Congenital hip dislocation, Delayed eruption of teeth, Delayed skeletal maturation, Abn...	ORPHA:1458
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Corneal opacity, Anemia	ORPHA:290
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Hemolytic anem...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Hemolytic anem...	ORPHA:529799
Fetal Gaucher Disease	Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thromb...	ORPHA:85212
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro...	OMIM:208540
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss	ORPHA:35710
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Frontometaphyseal Dysplasia	Joint contracture of the hand, Micrognathia, Limited elbow movement, Dislocated radial head, Fuse...	ORPHA:1826
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ...	OMIM:256700
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Downturned corners of mouth, Retrognathia, Elevated circulating creatinine concentration, Lymphop...	OMIM:301110
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Mandibular prognathia, Carious teeth, Hypoplasia of the odontoid process, Scoliosi...	OMIM:253010
Letterer-Siwe Disease	Hepatosplenomegaly, Irritability, Neutropenia, Thrombocytopenia, Anemia, Stomatitis	OMIM:246400
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe...	ORPHA:3145
Distal Myotilinopathy	Distal amyotrophy, Multiple joint contractures, Abnormal muscle fiber myotilin, Elevated circulat...	ORPHA:98911
Amed Syndrome, Digenic	Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, Thrombocytopenia, A...	OMIM:619151
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Pseudo-Torch Syndrome 1	Cataract, Cleft lip, Microretrognathia, Long philtrum, Umbilical hernia, Splenomegaly, Thrombocyt...	OMIM:251290
Legionnaires Disease	Hepatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Hematuria, Proteinuria, Pa...	ORPHA:549
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Myopathy, Weakness of facial musculature, Flexion contracture, Ethylmalonic ac...	OMIM:201470
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Myopathy, Cirrhosis, Hyperactivity, Hepatomegaly	ORPHA:363400
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho...	ORPHA:1667
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Decreased circulating...	ORPHA:3337
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Delayed cranial suture closure, Flexion contracture, Generalized lipodystrophy, ...	OMIM:608612
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Long philtrum, Micrognathia, Astigmatism, Solitary median maxi...	ORPHA:261250
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia, Anorexia	ORPHA:49827
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Ogden Syndrome	Everted upper lip vermilion, Delayed cranial suture closure, Thick upper lip vermilion, Hyperbili...	OMIM:300855
Nephroblastoma	Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma	ORPHA:654
Aregenerative Anemia	Depression, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Emotional lability...	ORPHA:101096
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Limited pronation/supination of fore...	OMIM:605432
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminase concentration, ...	OMIM:212065
Femoral-Facial Syndrome	Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Glandular hypospadias, Myopathy, Hydronephrosis, Facial palsy, Aplasia o...	ORPHA:1358
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Hepatomegaly, Nephrotic syndrome	ORPHA:330001
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli...	ORPHA:14
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic...	OMIM:267010
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Posterior Y-sutural cataract, Carious teeth, Delayed eruption of teeth...	ORPHA:50814
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Moyamoya Disease 6 With Or Without Achalasia	Dysphagia, Thrombocytopenia	OMIM:615750
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev...	OMIM:608807
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Inguinal hernia, Deep philtrum, Hyperextensible hand joints, Trismus, High p...	OMIM:227330
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Failure to thrive	OMIM:608776
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Obe...	ORPHA:293987
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Hepatic failure, Fail...	OMIM:606812
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight loss, Myoca...	ORPHA:188
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Abnormal palate morphology, Genu valgum, Aplasia/Hypoplasia of the lens	ORPHA:1381
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ...	OMIM:248800
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Micrognathia, Open mouth, High palate, Iris coloboma, Cataract, Trache...	OMIM:620654
21Q22.11Q22.12 Microdeletion Syndrome	Self-injurious behavior, Dental crowding, Downturned corners of mouth, Delayed skeletal maturatio...	ORPHA:261323
Cog4-Cdg	Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability	ORPHA:263501
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Ocular albinism	OMIM:614171
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Abnormality of Krebs cycle metabolism, Skeletal...	ORPHA:31
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Felty Syndrome	Cellulitis, Limitation of joint mobility, Abnormal joint morphology, Abnormal lymphocyte morpholo...	ORPHA:47612
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Anorexia	ORPHA:86893
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Decreased muscle mass, Horseshoe kidney, Abnormal mesenter...	ORPHA:2953
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hypospadias	OMIM:614091
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph...	ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Splenomegaly	OMIM:235555
Alg8-Cdg	Cataract, Abnormality of subcutaneous fat tissue, Hyponatremia, Camptodactyly, Thrombocytopenia, ...	ORPHA:79325
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Myopathy	ORPHA:254881
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Anorexia, Glossitis, Cheilitis	ORPHA:90045
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia	OMIM:615605
Noonan Syndrome 12	Lymphopenia, Spinal canal stenosis, Thrombocytopenia	OMIM:618624
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F...	ORPHA:272
Robinow Syndrome	Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hernia, Ankylog...	ORPHA:97360
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:71212
Xfe Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Failure to thrive, Renal insufficiency, ...	OMIM:610965
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy	OMIM:540000
Myhre Syndrome	Platyspondyly, Cataract, Hypoplasia of the maxilla, Cleft lip, Limitation of joint mobility, Enla...	OMIM:139210
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Jaundice, Elevated circulating hepatic transaminase concentration, Obesity	OMIM:614231
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Butterfly vertebrae, Submucous cleft hard palate, Attention deficit hyperactivity d...	OMIM:619227
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy	OMIM:125250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr...	OMIM:614748
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Long philtrum, Elevated circulating creatinine concentration, Short neck, Campto...	OMIM:608104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin...	OMIM:608840
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating hepatic transami...	ORPHA:264580
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele...	OMIM:610099
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Eczematoid dermatitis, Obesity, Congenital diaphragmatic hernia, Ne...	ORPHA:1001
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Malignant Hyperthermia, Susceptibility To, 2	Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis...	OMIM:154275
Huntington Disease-Like 1	Restlessness, Weight loss, Abnormal posturing	ORPHA:157941
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Fac...	ORPHA:370980
Classic Phenylketonuria	Self-injurious behavior, Cataract, Depression, Attention deficit hyperactivity disorder, Hyperphe...	ORPHA:79254
Dystonia-Deafness Syndrome 1	Cataract, Cleft upper lip, Pseudobulbar paralysis, Kyphoscoliosis, Dysphagia, Cleft palate	OMIM:607371
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Duane Retraction Syndrome	Microcornea, Abnormal form of the vertebral bodies, Central heterochromia, Aniridia, Abnormal pup...	ORPHA:233
Short Syndrome	Cataract, Dental malocclusion, Downturned corners of mouth, Delayed eruption of teeth, Megalocorn...	OMIM:269880
Autoimmune Hepatitis	Depression, Splenomegaly, Arthritis, Increased total bilirubin	ORPHA:2137
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets	OMIM:607765
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Multicystic kidney dysplasia	OMIM:618829
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Decre...	OMIM:277400
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Thin upper...	OMIM:277380
Oslam Syndrome	Radioulnar synostosis, Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume	ORPHA:2760
Zika Virus Disease	Ankle swelling, Wrist swelling, Thrombocytopenia, Arthritis, Lens subluxation, Conjunctivitis, Ir...	ORPHA:448237
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Attent...	ORPHA:261197
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent...	OMIM:123320
Malignant Hyperthermia, Susceptibility To, 3	Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis...	OMIM:154276
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Dysp...	ORPHA:171433
Meckel Syndrome, Type 6	Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re...	OMIM:612284
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lipodystrophy, Thrombocytopenia, B lymphocytopenia, Eleva...	OMIM:618048
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Persistent open anterior fontanelle, Elevated circulating phytanic acid concentration, ...	OMIM:614866
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:367
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short neck, Hemivertebrae, Vertebral f...	OMIM:271520
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Downturned corners of mouth, Aggressive behavior, Deep philtrum, Low...	ORPHA:163956
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Mandibular prognathia, Platelet anisocytosis, Umbilical hernia, Prominent metopic ridge, Thin upp...	OMIM:620475
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:619790
Kniest Dysplasia	Delayed epiphyseal ossification, Cataract, Platyspondyly, Limitation of joint mobility, Tracheoma...	OMIM:156550
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Spondylolysis, Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs...	ORPHA:464321
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Aspiration pneumonia, Attention deficit hyperactivity disorder, Weight loss, ...	ORPHA:216866
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at...	OMIM:619542
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Delayed cranial suture closure, Micrognathia, Reduced s...	OMIM:248370
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Irritability	ORPHA:348
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Deep philtrum, Micrognathia, Thrombocytopenia	ORPHA:1237
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concent...	OMIM:609452
Trisomy 17P	Skeletal muscle atrophy, Flexion contracture, Hydronephrosis, Macroglossia, Hypoplasia of penis, ...	ORPHA:261290
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Carious teeth, Periodontitis, Enlarged platelet dense granules...	OMIM:608233
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s...	OMIM:269300
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr...	ORPHA:314588
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Cholestasis, Dark urine, Congenital hepatic fibrosis, Cirrhosis, ...	OMIM:619534
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo...	ORPHA:171436
Donnai-Barrow Syndrome	Proteinuria, Congenital diaphragmatic hernia	ORPHA:2143
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Delayed eruption of teeth, Lymphopenia, Leukopenia, Gingival overgrowth, Reticulocytope...	ORPHA:508542
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Necrotizing myopathy, Acute hepatic failure, Exercise-induced rhabdomyolysis...	ORPHA:423
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria, Ragged-red muscle fibers	OMIM:550500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Retrognathia, Leukopenia, Butterfly vertebrae, Astigmatism, Metopic synostosis, Elevated circulat...	OMIM:301056
Huntington Disease	Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho...	ORPHA:399
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocytopenia, Short p...	OMIM:603585
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss, Dysphagia	ORPHA:2198
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers	OMIM:609283
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Prot...	OMIM:619127
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f...	OMIM:251880
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Hypoplasia of the maxilla, Macrodontia of permanent maxillary central inci...	OMIM:257850
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s...	ORPHA:79128
Cranioectodermal Dysplasia 2	Retrognathia, Polysplenia, Widely spaced teeth, Micrognathia, Hyperbilirubinemia, Splenomegaly, I...	OMIM:613610
Lathosterolosis	Cataract, Microcornea, Downturned corners of mouth, Long philtrum, Micrognathia, Gingival overgro...	ORPHA:46059
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Orofacial cleft, Dysphagia, Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Delayed skeletal maturation, Elbow flexion contracture,...	OMIM:616200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Extremely elevated cre...	ORPHA:99939
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcificatio...	ORPHA:169090
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia	ORPHA:27
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ...	ORPHA:2869
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Congenital Myopathy 16	Flexion contracture, EMG: myopathic abnormalities, Scapular winging	OMIM:618524
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Failure to thrive	ORPHA:2115
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology	OMIM:123550
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Self-mutilation, Renal cyst, Aggressive behavior, Hyperactivity, M...	OMIM:213300
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Micrognathia, Radioulnar synostosis, Motor stereotypy, Iris coloboma, Hip dislo...	OMIM:194190
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi...	OMIM:618823
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Obesity, Decreased activity of mitochondrial complex IV, Ragged-red musc...	OMIM:615418
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Decreased liver function, Rhabdomyolysis	OMIM:602199
Congenital Bile Acid Synthesis Defect Type 3	Hepatosplenomegaly, Hyperbilirubinemia	ORPHA:79302
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Recon Progeroid Syndrome	Dental crowding, Prominence of the premaxilla, Joint hypermobility, Smooth philtrum, Keratoconjun...	OMIM:620370
Autoimmune Hypoparathyroidism	Cataract, Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Conjunc...	ORPHA:36913
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Cachexia, Splenomegaly	ORPHA:1133
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Irritability, Po...	OMIM:618278
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R...	ORPHA:300605
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Atelis Syndrome 2	Downturned corners of mouth, Diastema, Thick lower lip vermilion, Micrognathia, Attention deficit...	OMIM:620185
Idiopathic Aplastic Anemia	Gingival bleeding, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:145600
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Aplastic anemia, Oral leukoplakia, Pterygium, Pancytopenia, Microdontia, Thrombocy...	OMIM:224230
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Keratitis, Failure to thrive, Aspiration pneumonia, Stage 5 ...	ORPHA:1018
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Irrita...	ORPHA:292
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Myopathy, Polycystic ovaries, Splenomegaly, Cirrhosis, Pancreatitis, Hepatomeg...	ORPHA:79083
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Increased variability in muscle fiber diameter, Decreased activity of mitochondrial...	OMIM:604377
Elsahy-Waters Syndrome	Cataract, Hypoplasia of the maxilla, Bifid uvula, Dental malocclusion, Delayed eruption of teeth,...	OMIM:211380
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall...	ORPHA:887
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Cenani-Lenz Syndrome	High, narrow palate, Cataract, Synostosis of joints, Synostosis of carpal bones, Elbow dislocatio...	ORPHA:3258
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur...	OMIM:612925
Methylmalonic Aciduria, Cblb Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci...	OMIM:251110
Osteopetrosis, Autosomal Recessive 8	Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia	OMIM:615085
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Abnormal joint morphology, Pancytopenia, Oral ulcer, Increased se...	ORPHA:811
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cong...	ORPHA:2075
Igg4-Related Aortitis	Hydronephrosis, Increased inflammatory response, Weight loss	ORPHA:449400
Zellweger Syndrome	Multicystic kidney dysplasia, Hepatic failure, Failure to thrive, Hydronephrosis, Hepatomegaly, J...	ORPHA:912
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Carious teeth, Keratitis, Scarring alopecia of scalp, Enamel hypoplasia, Conjunctivitis	OMIM:612843
Propionic Acidemia	Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Osteoporosis	OMIM:606054
Alpha-Mannosidosis, Adult Form	Cataract, Osteopenia, Depression, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Macroglossia	ORPHA:309288
Campomelia, Cumming Type	Multicystic kidney dysplasia, Multiple renal cysts, Hepatomegaly, Pancreatic cysts, Abnormality o...	ORPHA:1318
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Conical tooth, Dental malocclusion, Ectopia pupillae, Persistence of primary teeth, Ast...	OMIM:618727
Wolfram Syndrome 1	Cataract, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Dysphagia	OMIM:222300
Noonan Syndrome 4	Dental malocclusion, Delayed skeletal maturation, Cubitus valgus, Short neck, Blue irides, Thromb...	OMIM:610733
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Marden-Walker Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kid...	ORPHA:2461
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Joint con...	OMIM:618460
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Polymyositis	Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Abnormal re...	ORPHA:732
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Ski...	ORPHA:829
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cataract, Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Umbilical...	ORPHA:85321
Mosaic Trisomy 1	Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Congenital diaphragmati...	ORPHA:1692
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis	ORPHA:411593
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
3-Methylglutaconic Aciduria, Type Viib	Cataract, Leukopenia, Micrognathia, Neutropenia, Thrombocytopenia, Zonular cataract, Trismus, Fle...	OMIM:616271
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Conjunctival icterus, Pancytopenia, Leukopenia, Erythro...	ORPHA:447
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus	ORPHA:3378
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Thin upper lip vermilion, Thrombocytopenia, Anemia, Short philt...	ORPHA:163979
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Scleromyxedema	Abnormal skeletal muscle morphology, Myopathy, Elevated circulating creatine kinase concentration...	ORPHA:167635
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Snakebite Envenomation	Gingival bleeding, Neuromuscular dysphagia, Pseudobulbar paralysis, Hyponatremia, Thrombocytopenia	ORPHA:449285
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Recurrent urinary tract infections, Hepatosplenomegaly, Otitis media, Myopathy...	OMIM:612541
Congenital Syphilis	Cataract, Keratitis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly...	ORPHA:499009
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Osteoarthritis, Myopathy	ORPHA:166002
Renpenning Syndrome	Cachexia, Hypospadias, Skeletal muscle atrophy	ORPHA:3242
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Vesicoureteral reflux, EMG: myopathic abnormalities, Renal hypoplasi...	ORPHA:2549
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Marinesco-Sjögren Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:559
Shashi-Pena Syndrome	Retrognathia, Thin upper lip vermilion, Cervical C2/C3 vertebral fusion, Accelerated skeletal mat...	OMIM:617190
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Neutropenia, B lymphocytopen...	OMIM:150550
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst	ORPHA:166035
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Aicardi Syndrome	Cataract, Block vertebrae, Cleft upper lip, Butterfly vertebrae, Prominence of the premaxilla, Hi...	OMIM:304050
Down Syndrome	Keratoconus, Atlantoaxial dislocation, Narrow mouth, Open mouth, Acute megakaryocytic leukemia, P...	ORPHA:870
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Short n...	ORPHA:800
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ...	OMIM:600334
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612926
Nail-Patella Syndrome	Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Renal in...	OMIM:161200
Tularemia	Leukocytosis, Oral ulcer, Conjunctival hyperemia, Thrombocytopenia, Anemia, Conjunctivitis	ORPHA:3392
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Smooth philtrum, Increased size of the mandible, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Stromme Syndrome	Hydronephrosis, Myopathy, Accessory spleen, Bilateral renal hypoplasia	OMIM:243605
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Familial Glucocorticoid Deficiency	Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Azoospermia, Weight loss, ...	ORPHA:361
Mevalonic Aciduria	Cataract, Nuclear cataract, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated ...	OMIM:610377
Microphthalmia, Lenz Type	Self-injurious behavior, Cataract, Microcornea, Abnormality of the dentition, Delayed eruption of...	ORPHA:568
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Renal cortical cysts, Erythroderma, Failure to thrive	OMIM:609180
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased muscle mass...	OMIM:261515
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, ...	ORPHA:90673
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Renal cyst, Scapular winging	OMIM:615560
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Aggressive behavior, Long philtrum, Thrombocytopenia, Severe temper tantrums	OMIM:617710
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Thyrocerebroretinal Syndrome	Nephritis, Skeletal muscle atrophy	OMIM:274240
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impai...	OMIM:153670
Gaucher Disease, Type I	Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Vertebr...	OMIM:230800
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Cervical C5/C6 vertebrae fusio...	ORPHA:87
Traboulsi Syndrome	Cataract, Bifid uvula, Ectopia lentis, Dental malocclusion, Phakodonesis, Retrognathia, High pala...	OMIM:601552
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency, Failure to thrive	OMIM:608091
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Cervical C2/C3 vertebral fusion	ORPHA:370010
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Short neck, Deep philtrum, Thrombocytopenia, Anem...	OMIM:606003
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Congenital hip dislocation, Mandibular prognathia, Polysplenia, Cleft upper ...	ORPHA:373
Degcags Syndrome	Oral-pharyngeal dysphagia, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Micrognathia, Pr...	OMIM:619488
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Caroli Syndrome	Conjunctival icterus, Leukopenia, Hyperbilirubinemia, Hypersplenism, Leukocytosis, Thrombocytopen...	ORPHA:480520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Hypermobility of interphalangeal joints, Long philtrum,...	ORPHA:508498
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent u...	ORPHA:79404
Cornelia De Lange Syndrome 1	Pneumonia, Self-injurious behavior, Renal hypoplasia, Elbow flexion contracture, Reduced renal co...	OMIM:122470
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydroneph...	ORPHA:261344
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612924
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Failure to thrive, Hydronephro...	ORPHA:464311
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Pure Mitochondrial Myopathy	Quadriceps muscle weakness, Shoulder girdle muscle weakness, Rhabdomyolysis, Proximal amyotrophy,...	ORPHA:254854
Hardikar Syndrome	Unilateral cleft lip, Umbilical hernia, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Sp...	OMIM:301068
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Fatal Familial Insomnia	Weight loss, Dysphagia, Urinary retention	OMIM:600072
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Anorexia, Orchitis, Hema...	ORPHA:48435
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Oligozoospermia	ORPHA:91351
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Short ...	OMIM:612462
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Embryonal rhabdomyosarcoma, Micropenis,...	OMIM:257300
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Multiple Mitochondrial Dysfunctions Syndrome 7	Gingival overgrowth, Hyperglycinemia, Open mouth, Agitation, Irritability, Ankle clonus, Impulsiv...	OMIM:620423
Fanconi Anemia, Complementation Group I	Short neck, Astigmatism, Neutropenia, Fused cervical vertebrae	OMIM:609053
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy	ORPHA:1216
Thymoma	Rheumatoid arthritis, Myositis, Weight loss, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Microphthalmia, Syndromic 3	Cataract, Butterfly vertebrae, Hemivertebrae, Sclerocornea, Vertebral fusion, Vertebral hypoplasia	OMIM:206900
Vici Syndrome	Abnormal posturing, Chronic mucocutaneous candidiasis, Failure to thrive, Penile hypospadias, Myo...	OMIM:242840
Tufted Angioma	Anemia, Hemangioma of the lip, Thrombocytopenia	ORPHA:1063
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Cataract 47	Cataract, Microcornea	OMIM:612018
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle glycogen content, Decreased muscle mass, Upper limb muscle weakness, Increased m...	ORPHA:263297
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjugated hyperbilir...	OMIM:617093
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, C...	ORPHA:79345
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy	ORPHA:84142
Smith-Kingsmore Syndrome	Long philtrum, Umbilical hernia, Open mouth, Thin upper lip vermilion, Smooth philtrum, Thrombocy...	OMIM:616638
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Methylmalonic Aciduria, Cbla Type	Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Failure to thrive...	OMIM:251100
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Carious teeth, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
3Q29 Microdeletion Syndrome	Cataract, Abnormality of the dentition, Depression, Dental crowding, Joint hypermobility, Aggress...	ORPHA:65286
Takenouchi-Kosaki Syndrome	Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Inguinal he...	OMIM:616737
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Cataract, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyper...	ORPHA:2780
Congenital Toxoplasmosis	Anemia, Thrombocytopenia	ORPHA:858
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss, Anorexia	ORPHA:514
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Inguinal hernia, Accelerated bone age after puberty, Thrombocytopenia, Cleft palate	ORPHA:96181
Christianson Syndrome	Arthrogryposis multiplex congenita, Decreased muscle mass, Inappropriate laughter, Cachexia, Dysp...	ORPHA:85278
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep...	ORPHA:781
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Kyphosis, Micrognathia, Self-mutilation, Attention deficit hyperactivity disorde...	OMIM:619005
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Rhabdomyolysis, Myop...	OMIM:300842
Tuberous Sclerosis Complex	Chronic kidney disease, Self-injurious behavior, Stage 5 chronic kidney disease, Renal insufficie...	ORPHA:805
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Craniolenticulosutural Dysplasia	Bifid uvula, Posterior Y-sutural cataract, Carious teeth, Osteopenia, Delayed eruption of teeth, ...	OMIM:607812
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Beta-Ketothiolase Deficiency	Ketonuria, Oral aversion, Weight loss, Anorexia, Hepatomegaly, Agitation	ORPHA:134
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Failure to thrive, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibe...	ORPHA:255210
Immunodeficiency 27A	Pneumonia, Hepatosplenomegaly, Splenomegaly, Increased inflammatory response, Salmonella osteomye...	OMIM:209950
Griscelli Syndrome	Iris hypopigmentation, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thromb...	ORPHA:381
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Decreased muscle mass, Elbow flexion contractu...	ORPHA:2614
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy...	OMIM:255160
Joubert Syndrome 14	Renal cyst	OMIM:614424
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Eczematoid dermatitis, Failure to thrive, Multiple joint ...	ORPHA:464306
Dyskeratosis Congenita, Autosomal Dominant 2	Abnormality of the dentition, Aplastic anemia, Oral leukoplakia, Pancytopenia, Leukopenia, Thromb...	OMIM:613989
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Apert Syndrome	Delayed epiphyseal ossification, Bifid uvula, Lambdoidal craniosynostosis, Coronal craniosynostos...	OMIM:101200
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Exocrine pa...	ORPHA:699
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, Scapular winging, Dysphagia	ORPHA:98673
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Short neck, Neutropeni...	OMIM:105650
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria, Elevated circulating hepatic transaminase concentration, Micronodular cir...	OMIM:192315
Dubowitz Syndrome	Cataract, Abnormality of the dentition, Scoliosis, Delayed eruption of teeth, Delayed skeletal ma...	ORPHA:235
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Fibular Hemimelia	Hypoplastic acetabulae, Limitation of joint mobility, Limited knee flexion/extension, Joint stiff...	ORPHA:93323
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele...	OMIM:607459
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Everted upper lip vermilion, Retrognathia, Hepatosplenomegaly...	OMIM:608013
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Lymphadenitis	OMIM:618886
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Proteinuria, Prolonged neonatal jaundice, Jaundice, Microscopic hematu...	OMIM:274150
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Failure to thrive, Megacystis, Abnormal eating behavior, Vesicoureteral refl...	ORPHA:209905
Osteogenesis Imperfecta	Carious teeth, Enlarged vertebral pedicles, Micrognathia, Genu valgum, Decreased skull ossificati...	ORPHA:666
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Limb muscle weakness, Aggressive behavior, Cachexia, Facial palsy, Dysph...	ORPHA:97229
Bethlem Muscular Dystrophy	Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter...	ORPHA:610
Fabry Disease	Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Urinary mulberry cells	OMIM:301500
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Retrognathia, High nonceruloplasmin-bound serum copper, Thrombocytopenia...	ORPHA:457351
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ...	ORPHA:178148
Mitochondrial Trifunctional Protein Deficiency 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:620300
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase concentration, Ena...	OMIM:614576
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevated circulat...	OMIM:619040
Systemic Lupus Erythematosus	Discoid lupus rash, Malar rash, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Arthritis, ...	ORPHA:536
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Orchitis, Hematuria, Proteinuria, Knee osteoarthritis, Glome...	ORPHA:2035
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Increased mean corpuscular volume, Aplastic anemia, Oral leukoplakia, Lymphopenia,...	OMIM:127550
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Camptodactyly of finger, Hydronephrosis, Attenti...	ORPHA:261349
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Focal Myositis	Myositis, Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl...	ORPHA:2593
Usher Syndrome	Cataract, Carious teeth, Depression, Abnormal dental enamel morphology, Astigmatism, Microdontia,...	ORPHA:886
Aicardi Syndrome	Block vertebrae, Cleft upper lip, Butterfly vertebrae, Prominence of the premaxilla, Hiatus herni...	ORPHA:50
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macroglossia, Acute kidney injury, Nephronophthisis, Hepatic fibrosis, Failure to thrive, Cholest...	OMIM:266920
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Hydronep...	ORPHA:900
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydroneph...	OMIM:618454
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Astigmatism, Wormian bones, Flat acetabular roof, Fused cervical vertebrae	OMIM:617159
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Rheumatoid arthritis, Band keratopathy, Abnormality of the ankle, Joint hypermobility, ...	ORPHA:85410
Immunoglobulin A Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl...	ORPHA:761
Mpdu1-Cdg	Renal cortical cysts, Eczematoid dermatitis, Elevated circulating creatine kinase concentration	ORPHA:79323
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Splenomegaly	OMIM:613812
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Scoliosis, Thrombocytopenia	OMIM:616577
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia, Scoliosis	ORPHA:171844
Chediak-Higashi Syndrome	Iris hypopigmentation, Periodontitis, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutro...	OMIM:214500
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Camptodactyly of finger	ORPHA:2065
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:210136
Sanjad-Sakati Syndrome	Hypoplasia of penis, Myopathy	ORPHA:2323
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Microscopic hematuria	ORPHA:71273
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst	OMIM:250410
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Biliary cirrhosis, Glycosuria, Abnormality of body weight, Skin rash, Polyc...	ORPHA:2298
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Hermansky-Pudlak Syndrome 5	Ocular albinism, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Throm...	OMIM:614074
Giant Cell Arteritis	Hepatic failure, Renal insufficiency, Hematuria, Weight loss, Arthritis, Anorexia, Pericarditis	ORPHA:397
Gaucher Disease	Gingival bleeding, Pancytopenia, Elevated circulating C-reactive protein concentration, Dysphagia...	ORPHA:355
Phelan-Mcdermid Syndrome	Bruxism, Vesicoureteral reflux, Aggressive behavior, Tongue thrusting, Abnormality of the kidney,...	OMIM:606232
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating hepatic transaminase concentration, Ketonuria, Oral-pharyngeal dysphagia, Rh...	OMIM:616878
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Dyskeratosis Congenita	Cataract, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leukoplakia, Abnormality ...	ORPHA:1775
Cerebellofaciodental Syndrome	Cataract, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Delayed skelet...	OMIM:616202
Epidermal Nevus Syndrome	Rhabdomyosarcoma, Polycystic kidney dysplasia, Weakness of long finger extensor muscles	ORPHA:35125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Mildly elevated creatine...	OMIM:258450
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, My...	ORPHA:71
Erythrokeratodermia Variabilis	Weight loss, Skin rash	ORPHA:317
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Umbilical hernia, Leukopenia, Hyperbilirubinemia, M...	OMIM:619991
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly	ORPHA:42642
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Vertebral segmentation defect, Vertebral fusion, Iris coloboma	ORPHA:959
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Inguinal hernia, Aplasia/Hypoplasia of the patella	ORPHA:1069
3Q29 Microduplication Syndrome	Cataract, Abnormality of the dentition, Aniridia, Camptodactyly of toe, Short neck, Deep philtrum...	ORPHA:251038
Aniridia And Absent Patella	Cataract, Aniridia, Aplasia/Hypoplasia of the patella	OMIM:106220
Farber Disease	Hepatosplenomegaly, Abnormality of the wrist, Abnormality of the knee, Joint swelling, Thrombocyt...	ORPHA:333
1P36 Deletion Syndrome	Self-injurious behavior, Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormalit...	ORPHA:1606
Proteus-Like Syndrome	Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Subcutaneous lipoma, Open b...	ORPHA:2969
Autoinflammatory Disease, Systemic, With Vasculitis	Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Increased T cell count, An...	OMIM:620376
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ...	ORPHA:98907
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Delayed skeletal maturation, Pancytopenia, Hypocalcemia, In...	OMIM:613658
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan e...	ORPHA:505248
Ivic Syndrome	Synostosis of carpal bones, Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopeni...	ORPHA:2307
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hypercalciuria, Congeni...	ORPHA:369837
Classic Hodgkin Lymphoma	Splenomegaly, Skin rash, Weight loss, Anorexia, Hepatomegaly	ORPHA:391
Joubert Syndrome 39	Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger	OMIM:619562
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Erysipelas, Acute hepatic failure, Skin rash, Splenomegaly, Orchit...	ORPHA:342
Rothmund-Thomson Syndrome Type 1	Abnormality of the dentition, Osteopenia, Carious teeth, Aplastic anemia, Leukemia, Delayed erupt...	ORPHA:221008
Juvenile Huntington Disease	Weight loss, Hyperactivity	ORPHA:248111
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, Thrombocytopenia, Neutropenia, Anemia, High palate	OMIM:614520
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Biconcave vertebral bodies, Hypokalemia, Oste...	OMIM:219090
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Scoliosis	ORPHA:95232
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,...	OMIM:278000
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Calcinosis, Leukemia, High palate,...	ORPHA:221016
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu...	OMIM:619644
Thrombocytopenia-Absent Radius Syndrome	Cataract, Carpal synostosis, Hepatosplenomegaly, Micrognathia, Leukocytosis, Malar flattening, Pa...	OMIM:274000
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Mosaic Trisomy 9	Camptodactyly of finger, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypopl...	ORPHA:99776
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Failure to thrive, Horseshoe kidney, Abnormality of...	ORPHA:2538
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Hand muscle weakness, G...	ORPHA:98908
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Irritability	OMIM:253270
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Recurrent otitis media, Multiple bladder diverticula	ORPHA:2728
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Recurrent sinusitis, Decreased proportio...	OMIM:614700
Ohdo Syndrome	Proteinuria	OMIM:249620
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati...	ORPHA:36426
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Failure to thrive, Pectoralis hypoplasia,...	OMIM:254940
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Li...	ORPHA:20
Cockayne Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Foot joint contracture, Failure to thriv...	ORPHA:90321
Diamond-Blackfan Anemia	Cleft lip, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of...	ORPHA:124
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,...	ORPHA:556
Arnold-Chiari Malformation Type I	Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Dysph...	ORPHA:268882
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Esophagitis, Myopathy, Hashimoto thyroiditis, Abnormality of ...	ORPHA:90289
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Donnai-Barrow Syndrome	Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Diaphragmatic ev...	OMIM:222448
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myopathy	OMIM:158800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Emotional lability, Patellar dislocation, Motor stereotypy, Self-inju...	ORPHA:353281
Hereditary Late-Onset Parkinson Disease	Agitation, Weight loss, Spastic/hyperactive bladder, Hypomimic face, Dysphagia, Impulsivity	ORPHA:411602
Choreoacanthocytosis	Muscle fiber atrophy, Myopathy, Hair-pulling, Weight loss, Elevated circulating alanine aminotran...	ORPHA:2388
Thakker-Donnai Syndrome	Downturned corners of mouth, Narrow mouth, Congenital diaphragmatic hernia, Cervical C2/C3 verteb...	ORPHA:1780
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating hepatic transaminase concentration, Ketonuria, Elevated circulating creatine...	ORPHA:480864
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko...	OMIM:310600
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Muscle-Eye-Brain Disease	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:588
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d...	OMIM:200995
Castleman Disease	Ureteral obstruction, Renal insufficiency, Hematuria, Weight loss, Jaundice	ORPHA:160
Dengue Fever	Gingival bleeding, Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Acute Adrenal Insufficiency	Failure to thrive, Renal insufficiency, Salt craving, Decreased urinary potassium, Weight loss, A...	ORPHA:95409
Trisomy 20P	Camptodactyly of finger, Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnorma...	ORPHA:261318
Genitopatellar Syndrome	Multicystic kidney dysplasia, Knee flexion contracture, Hip contracture, Hydronephrosis, Arthrogr...	ORPHA:85201
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Annular pancreas, Elbow flexion contracture, Failure to...	ORPHA:96149
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration, Flexion co...	ORPHA:682
Atelosteogenesis, Type I	Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Micrognathia, Malar flattening, Shor...	OMIM:108720
Roberts Syndrome	Cataract, Synostosis of carpal bones, Cleft upper lip, Micrognathia, Malar flattening, Patellar a...	ORPHA:3103
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Deeah Syndrome	Narrow palate, Retrognathia, Long philtrum, Delayed skeletal maturation, Narrow mouth, Self-mutil...	OMIM:619004
Glycerol Kinase Deficiency	Muscular dystrophy, Increased urinary glycerol, Chronic pancreatitis, Myopathy, Small for gestati...	OMIM:307030
Chops Syndrome	High, narrow palate, Cataract, Downturned corners of mouth, Long philtrum, Tracheomalacia, Spleno...	OMIM:616368
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Aggressive behavior, Skeletal muscle atrophy, Myopathy	ORPHA:85329
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Elevated urinary epinephrine level, Myopathy	OMIM:162300
Neuroblastoma	Increased circulating ferritin concentration, Pathologic fracture, Irritability, Thrombocytopenia...	ORPHA:635
Immune Thrombocytopenia	Gingival bleeding, Thrombocytopenia	ORPHA:3002
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Prolidase Deficiency	Micrognathia, Splenomegaly, Thrombocytopenia, Anemia, High palate	OMIM:170100
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy	OMIM:275630
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Large for gestational age, Nephroblastoma, Renal cyst, Macroglossi...	OMIM:617107
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Ankyloglossia, Micrognathia...	OMIM:620186
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Splenomegaly, Increa...	ORPHA:98849
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Arthritis, Juven...	ORPHA:1855
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Septic arthritis, Fasciitis, Elevated circulating creatinine concent...	ORPHA:36234
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Autoimmune hemolytic anemia, Sp...	OMIM:301078
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Aspiration pneumoni...	ORPHA:94093
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Anorexia, Inflammatory abnormality of th...	ORPHA:3287
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,...	ORPHA:2473
Solitary Fibrous Tumor	Neoplasm of the liver, Weight loss, Urinary retention, Abnormal peritoneum morphology	ORPHA:2126
Tuberous Sclerosis 1	Attention deficit hyperactivity disorder, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Lig4 Syndrome	Pancytopenia, Astigmatism, Chronic sinusitis, Thrombocytopenia, Acute lymphoblastic leukemia	OMIM:606593
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
8P23.1 Microdeletion Syndrome	Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Weight loss, ...	ORPHA:251071
Congenital Tufting Enteropathy	Cataract, Irritability, Punctate keratitis, Orofacial cleft, Arthritis, Corneal erosion	ORPHA:92050
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Renal dysplasia	OMIM:617260
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Von Willebrand Disease, Type 3	Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Abnormal temper tantrums, Dilatation of the renal pelvis, Renal ag...	ORPHA:2044
Frontometaphyseal Dysplasia 2	Bifid uvula, Congenital hip dislocation, Keloids, Dislocated radial head, Elbow contracture, Hip ...	OMIM:617137
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Absent knee epiphyses, Delayed epiphyseal ossification, Platyspondyly, Shoulder flexion contractu...	OMIM:210710
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Tooth malposition, Ectopia lentis, Hypoplasia of the maxilla, Narrow...	OMIM:608328
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Pancyto...	ORPHA:2785
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Weight loss, Increased body w...	ORPHA:1501
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Elbow dislocation, Abno...	ORPHA:2769
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Pancreatic cy...	ORPHA:464329
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Type 2...	ORPHA:98915
Ivic Syndrome	Carpal synostosis, Leukocytosis, Limited elbow movement, Carpal bone hypoplasia, Radioulnar synos...	OMIM:147750
Oculogastrointestinal Muscular Dystrophy	Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Tuberous Sclerosis 2	Renal angiomyolipoma, Attention deficit hyperactivity disorder, Renal cyst, Renal cell carcinoma,...	OMIM:613254
Atelosteogenesis Type I	Multiple renal cysts, Abnormal pancreatic duct morphology	ORPHA:1190
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Hypothyroidism, Congenital, Nongoitrous, 2	Delayed skeletal maturation, Umbilical hernia, Hyperbilirubinemia, Macroglossia, Increased circul...	OMIM:218700
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:86818
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:275761
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Enlarged kidney, Myopathy	OMIM:261740
Huntington Disease-Like 2	Weight loss	OMIM:606438
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Aplastic anemia, Oral leukoplakia, Pancytopenia, Leukopenia, Avascular necrosis of th...	OMIM:613990
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic necrosis, Myopathy	ORPHA:100093
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Homocystinuria, Methylmalonic aciduria	OMIM:277410
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Multiple joint contractures, Torticollis, Facial palsy, Dysphagia	OMIM:128100
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Micropeni...	OMIM:146510
Chromosome 16P13.3 Duplication Syndrome	Bifid uvula, Long philtrum, Cervical C5/C6 vertebrae fusion, Micrognathia, Tented upper lip vermi...	OMIM:613458
Pyomyositis	Myositis, Weight loss, Renal insufficiency, Recurrent cutaneous abscess formation	ORPHA:764
Alpha-Mannosidosis, Infantile Form	Pneumonia, Oligosacchariduria, Recurrent urinary tract infections, Hepatosplenomegaly, Otitis med...	ORPHA:309282
Alexander Disease Type I	Cachexia, Dysphagia, Failure to thrive	ORPHA:363717
Shigellosis	Microangiopathic hemolytic anemia, Leukocytosis, Hyponatremia, Splenic abscess, Thrombocytopenia,...	ORPHA:810
Von Hippel-Lindau Syndrome	Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma	OMIM:193300
Thyrotoxic Periodic Paralysis	Urinary retention, Lower limb muscle weakness, Obesity, Rhabdomyolysis, Decreased urinary potassi...	ORPHA:79102
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Stickler Syndrome	Open bite, Micrognathia, Genu valgum, Short hard palate, Hip dislocation, Protrusio acetabuli, Ca...	ORPHA:828
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormality of the liver, Splenomegaly, Hepatoblastoma, Gastr...	ORPHA:84064
Acute Radiation Syndrome	Cataract, Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Dysphagia	ORPHA:169105
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Cataract, Severe B lymphocytopenia, Delayed cranial suture closure, Lymphopenia...	OMIM:620005
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Behçet Disease	Anorexia, Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, Infectious encephalit...	ORPHA:117
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Immunodeficiency 9	Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Myopathy	OMIM:612782
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Self-injurious behavior, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Se...	ORPHA:371364
Von Hippel-Lindau Disease	Upper limb muscle weakness, Elevated urinary catecholamine level, Distal lower limb muscle weakne...	ORPHA:892
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Hepatic steatosis, Cirrhosis, Duplicated collecting system, Hepatomegaly,...	OMIM:270400
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Myopathy Due To Myoadenylate Deaminase Deficiency	Rhabdomyolysis, Skeletal muscle atrophy, Myopathy	OMIM:615511
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Open mouth, Exaggerated cupid's bow, Short philtrum, Fused teeth, En...	OMIM:300896
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Proteinuria, Increa...	ORPHA:244242
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Weill-Marchesani Syndrome 1	Tooth malposition, Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the maxilla, Spinal...	OMIM:277600
Fryns Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephro...	ORPHA:2059
Pseudohypoparathyroidism Type 1C	Cataract, Depression, Hyperphosphatemia, Delayed eruption of teeth, Ectopic ossification, Hypocal...	ORPHA:79444
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ...	OMIM:255200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Abnormality of the dentition, Limitation of joint mobility, Hyperlipidemia, Acroosteoly...	ORPHA:90153
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Eosinophilic Fasciitis	Fasciitis, Myositis, Muscular edema, Weight loss, Arthritis	ORPHA:3165
Williams Syndrome	Myopathy, Polycystic ovaries, Overfriendliness, Chronic otitis media, Cholelithiasis, Failure to ...	ORPHA:904
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Obesity, Aggressive behavior, Cachexia, Hyperactivity, Hypoplasia of penis	ORPHA:85293
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Trisomy 10P	Decreased muscle mass, Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Campt...	ORPHA:171929
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Micrognathia, Hyponatremia, Thin upper lip vermilion, Campt...	ORPHA:79324
Silver-Russell Syndrome	Abnormality of the urinary system, Decreased muscle mass, Failure to thrive in infancy, Obesity, ...	ORPHA:813
Joubert Syndrome 21	Hyperechogenic kidneys, Splenomegaly, Chronic sinusitis, Renal cyst, Dysphagia	OMIM:615636
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Depression, Abnormal circulating lipid concentration, Delayed skeletal maturation, Pa...	ORPHA:77293
Camurati-Engelmann Disease	Carious teeth, Limb pain, Lower limb pain, Genu valgum, Sclerosis of skull base, Diaphyseal scler...	OMIM:131300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Flexion con...	ORPHA:487796
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Flexion contracture of finger, Elevated circulating C-reactive protein concent...	OMIM:256040
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Arthritis, Macrocytic an...	OMIM:301054
Polyarteritis Nodosa	Weight loss, Abnormality of the kidney, Pericarditis	ORPHA:767
Follicular Lymphoma	Weight loss, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Camptodactyly of finger, Horseshoe kidney, Acute hepatic failure, D...	ORPHA:2092
Duane-Radial Ray Syndrome	Cataract, Shoulder dislocation, Spina bifida occulta, Scoliosis, Iris coloboma, Fused cervical ve...	OMIM:607323
Mcdonough Syndrome	Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:2471
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Epiphyseal stippling, Knee flexion contracture, Hip contracture, Hypoplasia of the nasa...	OMIM:118650
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Splenomegaly, Microdontia, A...	OMIM:301072
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Posterior embryotoxon, Short neck, Patellar dislocatio...	ORPHA:567
Agel Amyloidosis	Stage 5 chronic kidney disease, Proteinuria, Abnormal spleen morphology, Keratoconjunctivitis sic...	ORPHA:85448
Myopathy, Myofibrillar, 1	Facial palsy, EMG: myopathic abnormalities	OMIM:601419
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis	OMIM:217090
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cataract, Ectopia lentis, Dental crowding, Kyphosis, Joint stiffness, Genu valgum, Hernia, Anorex...	ORPHA:394
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,...	OMIM:266600
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Osteopenia, Thrombocytopenia	OMIM:620365
Xp21 Deletion Syndrome	Decreased muscle mass, Recurrent otitis media, Myopathy, Elevated circulating creatine kinase con...	ORPHA:261476
Liposarcoma	Weight loss, Abnormality of the kidney	ORPHA:69078
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Decreased muscle mass, Obsessive-compulsive trait, Myopathy, Motor tics, Hyperactivi...	OMIM:234200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatic steatosis, Myopathy, Polycystic ovaries, Splenomegaly, Muscle hypertrophy of the lower ex...	ORPHA:280365
Riddle Syndrome	Enuresis nocturna, Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sin...	ORPHA:420741
Von Willebrand Disease	Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Joint hemorrhage, Abnormal plat...	ORPHA:903
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:614557
Gm1 Gangliosidosis	Failure to thrive, Aspiration pneumonia, Camptodactyly of finger, Hepatosplenomegaly, Splenomegal...	ORPHA:354
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Hemoglobinuria, Jaundice	OMIM:194380
Mirage Syndrome	Scoliosis, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypopla...	OMIM:617053
Reynolds Syndrome	Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Lip telangiectasia	OMIM:613471
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Nijmegen Breakage Syndrome	Cleft upper lip, Malar prominence, Micrognathia, Autoimmune hemolytic anemia, Conjunctival telang...	OMIM:251260
Shwachman-Diamond Syndrome 1	Delayed skeletal maturation, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at...	OMIM:260400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Triosephosphate Isomerase Deficiency	Cholelithiasis, Skeletal muscle atrophy, Failure to thrive, Cholecystitis, Myopathy, Splenomegaly...	OMIM:615512
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, High palate, Iris coloboma, Cataract, Hypoplasia of the ma...	ORPHA:861
Fryns Syndrome	Joint contracture of the hand, Ectopic pancreatic tissue, Renal agenesis, Polysplenia, Large for ...	OMIM:229850
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Failure to thrive in infancy, Osteomyelitis, Pustule, Weight l...	ORPHA:171876
Thrombocytopenia 6	Osteoporosis, Thrombocytopenia	OMIM:616937
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Moynahan Syndrome	Cachexia	ORPHA:2574
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Weight loss, Failure to thrive	ORPHA:1842
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Graves Disease	Polyphagia, Weight loss, Hyperactivity	OMIM:275000
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Obesity, Proteinuria, Pancreatitis, Micr...	OMIM:619471
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro...	ORPHA:98902
Pseudoachondroplasia	Osteoarthritis, Skeletal myopathy	ORPHA:750
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Oral ulcer, Ankle clonus, Thrombocytopenia, Neutropenia, Gingivitis, Hemolytic anem...	OMIM:308230
Diamond-Blackfan Anemia 21	Micrognathia, Narrow mouth, Genu valgum, Erythroid hypoplasia, Cubitus valgus, Thrombocytopenia, ...	OMIM:620072
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia	OMIM:616300
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Abnormal pancreas mor...	ORPHA:116
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Failure to thrive in infancy, Cachexia, Hip contracture	OMIM:616801
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Failure to thrive, Polycystic ovaries	ORPHA:137675
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss, Abnormal peritoneum morphology	ORPHA:26790
Martin-Probst Syndrome	Proteinuria, Chordee, Renal insufficiency, Micropenis	OMIM:300519
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Lower limb muscle weakness, Failure to thrive, Elevated circulating creatine ...	ORPHA:365
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
19Q13.11 Microdeletion Syndrome	Cachexia, Hypospadias, Failure to thrive	ORPHA:217346
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Weight loss, Abnormality of the kidney, ...	ORPHA:54251
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Diastasis ...	OMIM:130650
Schinzel-Giedion Syndrome	Recurrent pneumonia, Annular pancreas, Failure to thrive in infancy, Abnormality of the ureter, N...	ORPHA:798
Fabry Disease	Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m...	ORPHA:324
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:191
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Dysphagia, Myopathy	OMIM:613077
Pierson Syndrome	Skeletal muscle atrophy, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Dif...	OMIM:609049
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Limb-girdle muscle weakness, Osteomyelit...	OMIM:112250
Jacobsen Syndrome	Cataract, Microcornea, Abnormal form of the vertebral bodies, Long philtrum, Inguinal hernia, Abn...	ORPHA:2308
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Weight loss, Skin rash	ORPHA:33276
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Delayed skeletal maturation, Delayed cranial suture closure, Hy...	ORPHA:93325
C Syndrome	Hepatomegaly, Renal cortical cysts, Failure to thrive	OMIM:211750
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, Os...	ORPHA:186
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Meckel Syndrome 14	Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:619879
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Hepatic steat...	OMIM:615846
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Joint contracture of the hand, Failure to thrive, Camptodactyly of finger, Low-mol...	OMIM:309000
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, ...	ORPHA:906
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Carious teeth, Abnormal circulating selenium concentration, Depression, Foot joint co...	ORPHA:79408
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Microcoria, Hypoplasia o...	ORPHA:93357
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Failure to thrive, Renal cyst	OMIM:102500
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Cholestasis, Failure to thrive in infancy, Rhabdomyolysis, Skeletal m...	ORPHA:746
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Spina bifida occul...	OMIM:612109
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure...	DECIPHER:81
Gaucher Disease, Type Ii	Splenomegaly, Trismus, Thrombocytopenia, Anemia, Dysphagia	OMIM:230900
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Portal hypertension, Splenomegaly, Chronic hepatic failure, Cirrhosis, Wei...	ORPHA:465508
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Cataract, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to f...	OMIM:259770
Distal Deletion 15Q	Multicystic kidney dysplasia, Failure to thrive, Congenital diaphragmatic hernia, Attention defic...	ORPHA:1596
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Tick-Borne Encephalitis	Depression, Stiff neck, Leukopenia, Limb pain, Leukocytosis, Thrombocytopenia, Anorexia, Elevated...	ORPHA:297
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Vesicoureteral reflux, Renal cyst, Attention deficit hyperactivity disorder, Hy...	OMIM:616975
Wars2-Related Combined Oxidative Phosphorylation Defect	Thin upper lip vermilion, Aggressive behavior, Thrombocytopenia, High palate, Dysphagia	ORPHA:572798
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity, Cutaneous leiomyosarcoma, Uterine leiomyosarcoma, Renal ce...	OMIM:150800
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Weight loss, Organic aciduria	OMIM:301310
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia	ORPHA:319218
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hydronephrosis, Weight ...	ORPHA:100078
Orofaciodigital Syndrome I	Hepatic fibrosis, Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney d...	OMIM:311200
Allergic Bronchopulmonary Aspergillosis	Weight loss, Bronchiectasis	ORPHA:1164
Lysinuric Protein Intolerance	Hemophagocytosis, Delayed skeletal maturation, Increased circulating ferritin concentration, Leuk...	OMIM:222700
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating fatty-acid conc...	ORPHA:567983
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Inflammatory abnormality of the skin, Abnormality of the shoulder girdle muscula...	ORPHA:565612
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Exocrine p...	ORPHA:2750
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Weight loss, Nephrotic syndrome, Abnormality of t...	ORPHA:29073
Fanconi Anemia, Complementation Group C	Anterior wedging of T12, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ...	OMIM:227645
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Renal hypoplasia, Splenomegaly, Hepatomegaly, Cystic renal dysplasia	OMIM:269860
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Dysphagia, Weight loss	ORPHA:142
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Osteopenia, Congenital hip dislocation, Micrognathia, Hypocalcemia, Splenomegaly, Hypok...	OMIM:617913
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi...	ORPHA:131
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperechogenic kidney...	ORPHA:397715
Addison Disease	Failure to thrive, Hashimoto thyroiditis, Salt craving, Decreased urinary potassium, Weight loss,...	ORPHA:85138
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Nephroblastoma, Camptodact...	ORPHA:500095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Abnormality of chromosome stability, Recurrent ur...	ORPHA:84
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-...	ORPHA:457077
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm...	OMIM:313900
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Short neck, Aplastic anemia, Thrombocytopenia	OMIM:300514
Digeorge Syndrome	Micrognathia, Intervertebral disk degeneration, Posterior embryotoxon, Patellar dislocation, High...	OMIM:188400
Microform Holoprosencephaly	EMG: myopathic abnormalities, Hypoplasia of penis, Renal agenesis	ORPHA:280200
Secondary Short Bowel Syndrome	Failure to thrive, Cholestasis, Polyphagia, Enterocolitis, Weight loss	ORPHA:95427
Neuropathy, Congenital Hypomyelinating, 3	Facial diplegia, Cachexia, Hypomimic face, Limb joint contracture, Flexion contracture, Arthrogry...	OMIM:618186
Blue Rubber Bleb Nevus	Pathologic fracture, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Oral leukoplakia, Pathologic fracture, Genu valgum, Increased susceptibility to fract...	OMIM:612199
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Anorexia	ORPHA:2930
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Hepatic cysts, Intermittent jaundice, Bi...	ORPHA:100085
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Retrognathia, Contracture of the distal interphalangeal joint of the fi...	ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Cataract, Hip subluxation, Downturned corners of mouth, Long philt...	ORPHA:444077
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l...	ORPHA:803
Aicardi-Goutieres Syndrome 1	Self-mutilation, Splenomegaly, Thrombocytopenia	OMIM:225750
Hoyeraal-Hreidarsson Syndrome	Anemia, Oral leukoplakia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Tetrasomy 9P	Inappropriate behavior, Recurrent urinary tract infections, Horseshoe kidney, Glue ear, Absent ga...	ORPHA:3310
Lujo Hemorrhagic Fever	Stiff neck, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-react...	ORPHA:319213
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:109
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Smoot...	ORPHA:79282
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Elbow flexion contracture, Abnormality of the ureter, Con...	OMIM:200980
Nijmegen Breakage Syndrome	Acute leukemia, Retrognathia, Autoimmune hemolytic anemia, Attention deficit hyperactivity disord...	ORPHA:647
Neurooculorenal Syndrome	Broad philtrum, Micrognathia, Conjugated hyperbilirubinemia, Iris atrophy	OMIM:620305
Bardet-Biedl Syndrome	Chronic kidney disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulati...	ORPHA:110
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Dysphagia, Limb muscle weakness, Ragged-red muscle fibers	OMIM:609286
Dyskeratosis Congenita, X-Linked	Cataract, Carious teeth, Oral leukoplakia, Pterygium, Pancytopenia, Leukopenia, Acute myeloid leu...	OMIM:305000
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Micrognathia, Emotional lability, Patellar dislocation, High palate, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Micrognathia, Emotional lability, Patellar dislocation, High palate, ...	ORPHA:353277
Cardiospondylocarpofacial Syndrome	Long philtrum, Carpal synostosis, Delayed skeletal maturation, Fusion of middle ear ossicles, Her...	OMIM:157800
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hematuria, Weight loss, Hepatomegaly, Bronchiectasis	ORPHA:60025
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia, Congenital diaphragmatic hernia	OMIM:616546
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Hermansky-Pudlak Syndrome	Weight loss, Renal insufficiency, Anorexia	ORPHA:79430
Jacobsen Syndrome	Microcornea, Micrognathia, Short neck, Thrombocytopenia, Flexion contracture, Iris coloboma, U-Sh...	OMIM:147791
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Skeletal muscle atrophy, Myopathy	ORPHA:536545
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas	ORPHA:83469
Immunodeficiency 22	Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Attention deficit hyperactivity disorder, Keratoconjunctivitis sicca, Aggressive beha...	ORPHA:495875
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Oromandibular Dystonia	Bruxism, Weight loss, Dysphagia, Torticollis	ORPHA:93958
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal...	ORPHA:391641
Adams-Oliver Syndrome	Cataract, Leukopenia, Thrombocytopenia	ORPHA:974
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Failure to thrive, Camptodactyly, Fa...	OMIM:300373
Cockayne Syndrome B	Failure to thrive, Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Severe failure t...	OMIM:133540
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytopenia, Arthritis,...	ORPHA:464343
Peripheral Primitive Neuroectodermal Tumor	Lower limb muscle weakness, Weight loss, Pancreatitis, Torticollis, Anorexia, Jaundice, Neoplasm ...	ORPHA:370348
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Vesicoureteral reflux, Diastasis recti	OMIM:618548
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle...	OMIM:164310
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Kyphosis, Abnormal form of the vertebral bodies, Hip contracture, Abnormal palate morph...	ORPHA:3042
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia, Corneal opacity,...	ORPHA:31150
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Weight loss, Dysphagia	ORPHA:2070
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis	ORPHA:60033
Mogs-Cdg	Retrognathia, Hepatosplenomegaly, Thoracic scoliosis, Thrombocytopenia, High palate	ORPHA:79330
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Urinary bladder inflammation, Fasciitis,...	ORPHA:99921
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Parotitis, Morbilliform rash, Cholecystitis, Splenomegaly, Orchitis, Hematuria, ...	ORPHA:99827
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration	OMIM:620326
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia, Pancreatic fibrosis	OMIM:263520
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Abnormal localization of kidney, Multicystic kidney dysplasia, Abnormali...	ORPHA:818
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney, Elbow flexion contracture	OMIM:117650
Rift Valley Fever	Gingival bleeding, Thrombocytopenia, Anorexia, Anemia, Back pain	ORPHA:319251
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia, High palate, Genu varum	OMIM:617941
Aspartylglucosaminuria	Platyspondyly, Cataract, Macroglossia, Spondylolysis, Delayed skeletal maturation, Thick lower li...	OMIM:208400
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Dysphagia, Weight loss	ORPHA:1332
Meckel Syndrome	Accessory spleen, Asplenia, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Urethral a...	ORPHA:564
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Rhabdomyosarcoma, Muscular dystrophy, Nephroblastoma	ORPHA:1052
Cockayne Syndrome A	Failure to thrive, Renal insufficiency, Splenomegaly, Hip contracture, Proteinuria, Hepatomegaly,...	OMIM:216400
Sandifer Syndrome	Esophagitis, Abnormal posturing, Torticollis	ORPHA:71272
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Abnormality of the urinary system	ORPHA:702
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration	OMIM:618775
Necrotizing Enterocolitis	Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Gaucher Disease Type 3	Delayed skeletal maturation, Pancytopenia, Splenomegaly, Increased susceptibility to fractures, T...	ORPHA:77261
Flynn-Aird Syndrome	Cachexia, Skeletal muscle atrophy	ORPHA:2047
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia, Elevated hepatic iron concentration	OMIM:614946
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Splenomegaly, Iridocyclitis, Hypercalciuria, Weight loss, Ar...	OMIM:181000
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Paramyotonia Congenita Of Von Eulenburg	Dysphagia, EMG: myopathic abnormalities, Facial muscle hypertrophy	ORPHA:684
Chronic Beryllium Disease	Weight loss, Lymphocytic interstitial pneumonia	ORPHA:133
Holoprosencephaly	Abnormality of the urinary system, Failure to thrive in infancy, Abnormality of the spleen, Conge...	ORPHA:2162
Hajdu-Cheney Syndrome	Periodontitis, Failure to thrive, Splenomegaly, Multiple renal cysts, Hepatomegaly, Hypospadias	ORPHA:955
Trisomy 18	Camptodactyly of finger, Congenital diaphragmatic hernia, Hydronephrosis, Abnormality of the uppe...	ORPHA:3380
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Pagod Syndrome	Abnormality of the spleen, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal h...	ORPHA:991
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Polysplenia, Omphalocele, Asp...	OMIM:306955
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Weight loss, Anorexia, Hepatomegaly	ORPHA:97287
Perry Syndrome	Weight loss	ORPHA:178509
Perry Syndrome	Weight loss, Inappropriate behavior, Disinhibition	OMIM:168605
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Joint hypermobility, Hypercholeste...	OMIM:300972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentrat...	OMIM:615287
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu...	ORPHA:98914
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu...	ORPHA:590
Cryptogenic Organizing Pneumonia	Weight loss, Anorexia	ORPHA:1302
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoulder girdle musc...	ORPHA:2020
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Myopathy	OMIM:115197
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Lower limb muscle weakness, Parotitis, Pancreatitis, Sinusitis, Dysphagia	ORPHA:449427
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Failure to thrive in infancy, Congenital diaphrag...	ORPHA:1308
Ménétrier Disease	Anorexia, Weight loss, Giant hypertrophic gastritis	ORPHA:2494
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cellulitis, Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia, Elevated circulating...	OMIM:617718
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:90051
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Weight loss, Anorexia, Conjunctivitis, Cheilitis, Blepharitis	ORPHA:37
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Hypoplasia of the bladder, Renal agen...	OMIM:249000
Kawasaki Disease	Hepatitis, Sterile pyuria, Skin rash, Cholecystitis, Proteinuria, Jaundice, Arthritis, Myocarditi...	ORPHA:2331
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss, Pericarditis	ORPHA:75566
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Rhabdomyolysis	OMIM:188580
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Aicardi-Goutières Syndrome	Lipoatrophy, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Multiple joint contracture...	ORPHA:51
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Bronchiectasis	ORPHA:411703
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Joint swelling, E...	ORPHA:3260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra...	OMIM:157640
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Camptodactyly of finger, Hydronephrosis, Hypoplasia of penis, Chron...	ORPHA:1507
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss, Anorexia	ORPHA:100080
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss, Bronchiectasis	ORPHA:79127
Juvenile Dermatomyositis	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Weight loss, Arthritis, ...	ORPHA:93672
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye, Panniculitis	ORPHA:33577
Congenital Myopathy 9A	Obesity, EMG: myopathic abnormalities	OMIM:618822
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive...	OMIM:212750
Aymé-Gripp Syndrome	Proteinuria, Camptodactyly, Congenital diaphragmatic hernia, Pericarditis	ORPHA:1272
Idiopathic Camptocormia	Myelitis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Elevated circulating...	ORPHA:1320
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Friedreich Ataxia	Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced	OMIM:229300
Rheumatoid Arthritis	Digital flexor tenosynovitis, Rheumatoid arthritis, Weight loss	OMIM:180300
Fanconi Anemia, Complementation Group F	Anemia, Sacral dimple, Leukopenia, Thrombocytopenia	OMIM:603467
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss	ORPHA:2902
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Decreased urine output, Pancr...	ORPHA:544482
Wolman Disease	Hepatomegaly, Hepatic failure, Cachexia, Splenomegaly	ORPHA:75233
Refractory Celiac Disease	Inflammatory abnormality of the skin, Weight loss, Abnormal spleen physiology, Elevated circulati...	ORPHA:398063
Leber Optic Atrophy	Myopathy	OMIM:535000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Mildly elevated creatine kinase, Weakness of faci...	ORPHA:502423
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Thymic Carcinoma	Weight loss	ORPHA:99868
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss, Anorexia	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss, Anorexia	ORPHA:100082
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Attention deficit hyperactivity disorder, Neutropenia, T...	OMIM:227646
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Esophagitis, Weight loss, Jaundice, Extrahepatic cholestasis	ORPHA:913
Late-Onset Isolated Acth Deficiency	Hepatitis, Failure to thrive, Hashimoto thyroiditis, Weight loss, Anorexia	ORPHA:199299
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Failure to thrive, Vesicoureteral reflux, Renal insufficiency, Cong...	ORPHA:199
Camurati-Engelmann Disease	Skeletal muscle atrophy, Urinary retention, Slender build, Splenomegaly, Cachexia, Anorexia, Hepa...	ORPHA:1328
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Block vertebrae, Cleft upper lip, Micrognathia, Wide mouth, Malar flat...	OMIM:164210
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Tetrasomy 12P	Cachexia	ORPHA:884
Familial Colorectal Cancer Type X	Pancreatic adenocarcinoma, Attention deficit hyperactivity disorder, Weight loss, Flexion contrac...	ORPHA:440437
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Polysplenia, Diastasis recti, Congenital diaphragmatic hernia, Nephr...	OMIM:312870
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Rett Syndrome	Bruxism, Cachexia, Skeletal muscle atrophy, Stereotypical hand wringing	OMIM:312750
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Heliotrope rash, Inflammatory myopathy, ...	ORPHA:221
Kikuchi-Fujimoto Disease	Anorexia, Leukopenia, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Anemia, Lymphocytos...	ORPHA:50918
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Weight l...	ORPHA:100086
Osteosarcoma	Weight loss	ORPHA:668
Zygomycosis	Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustule, Peritonit...	ORPHA:73263
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Abnormal temper tantrums, Abnormality of the spleen, Hepatosplenomegaly, ...	ORPHA:2072
Pneumocystosis	Weight loss, Interstitial pneumonitis, Acute infectious pneumonia, Chronic oral candidiasis	ORPHA:723
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal amyotrophy, Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Dysphagia	OMIM:603041
Malignant Atrophic Papulosis	Peritonitis, Arteritis, Weight loss, Abnormality of the lower urinary tract	ORPHA:679
Proteus Syndrome	Long penis, Decreased muscle mass, Myofibrillar myopathy, Splenomegaly, Enlarged polycystic ovari...	ORPHA:744
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Delayed skeletal maturation, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic an...	ORPHA:391487
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Reactive Arthritis	Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Recurrent...	ORPHA:29207
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Immunodeficiency 31C	Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis,...	OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocycl...	ORPHA:85408
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Hypernatriuria, Failure to thrive, Weight loss, Urogenital sinus anomaly, Renal salt ...	ORPHA:90794
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Congenital hepatic fibrosis, Hydronephrosis, Renal cyst, Hypoplasia of penis, U...	ORPHA:93271
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss, Lower limb muscle weakness	OMIM:137440
X-Linked Creatine Transporter Deficiency	Cachexia, Hyperactivity, Self-mutilation	ORPHA:52503
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Gingival bleeding, Decreased proportion of CD8-positive T cells, ...	OMIM:301000
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Townes-Brocks Syndrome	Renal hypoplasia, Failure to thrive, Renal insufficiency, Vesicoureteral reflux, Multiple renal c...	ORPHA:857
Johanson-Blizzard Syndrome	Conjunctival icterus, Downturned corners of mouth, Long philtrum, Delayed skeletal maturation, Ag...	OMIM:243800
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Elevated c...	OMIM:300257
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Osteomyelitis, Infectious ...	ORPHA:31204
Multiple Endocrine Neoplasia Type 1	Insulinoma, Nephrolithiasis, Hypercalciuria, Weight loss, Anorexia, Neoplasm of the pancreas	ORPHA:652
African Trypanosomiasis	Myelitis, Keratitis, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Aggressive behavior, ...	ORPHA:3385
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating hepatic transaminase concentration, Constrictive pericarditis, Weight loss, ...	ORPHA:67
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Vesicoureteral reflux,...	OMIM:107480
Lynch Syndrome	Pancreatic adenocarcinoma, Attention deficit hyperactivity disorder, Neoplasm of the liver, Weigh...	ORPHA:144
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Weight loss, Anorexia, ...	ORPHA:100075
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Recurrent pneumonia, Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb...	ORPHA:1900
Acute Liver Failure	Depression, Emotional lability, Hyperammonemia, Euphoria, Thrombocytopenia, Agitation	ORPHA:90062
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Infantile Krabbe Disease	Cachexia, Failure to thrive, Shoulder girdle muscle weakness	ORPHA:206436
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Short Syndrome	Weight loss	ORPHA:3163
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia	OMIM:175500
Mucolipidosis Type Ii	Hepatosplenomegaly, Diastasis recti, Otitis media, Hip contracture, Knee flexion contracture, Spl...	ORPHA:576
Primary Intestinal Lymphangiectasia	Weight loss, Peritoneal effusion	ORPHA:90362
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Hyperactivity, Agitation, Small for gestational age	ORPHA:424
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Glossopharyngeal Neuralgia	Weight loss, Oral-pharyngeal dysphagia	ORPHA:221098
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Motor stereotypy	OMIM:616682
Poems Syndrome	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:2905
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Weight loss, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis	OMIM:608710
Pemphigus Vulgaris	Weight loss, Recurrent cutaneous abscess formation	ORPHA:704
Polycythemia Vera	Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight loss, Hepatomegaly	ORPHA:729
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hip contracture, Knee flexion contracture, Hydronephrosis, Micropen...	OMIM:606170
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Neoplasm of the pancreas, Intermittent jaundice, Weight...	ORPHA:97278
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Renal agenesis, Camptodactyly of finger, Micropenis,...	OMIM:134780
Glucagonoma	Intrahepatic cholestasis, Skin rash, Neoplasm of the pancreas, Intermittent jaundice, Weight loss...	ORPHA:97280
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Irritability, Abnormal cal...	ORPHA:51608
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Recurrent cutaneo...	ORPHA:99889
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Pustular rash, Hepatitis, Recurrent otitis media, Osteomyelitis, Skin rash, Splenomega...	OMIM:619381
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Juvenile myelomonocytic leukemia, Micrognathia, Kyphosc...	OMIM:163950
Peters Plus Syndrome	Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter...	ORPHA:709
Somatostatinoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Gallbladder dysfunctio...	ORPHA:97283
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Neoplasm of the liver,...	ORPHA:97282
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Failure to thrive, Recurrent otitis media, Bruxism, V...	ORPHA:261537
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Recurrent otitis media, Bruxism, Vesicoureteral reflu...	ORPHA:2152
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Neoplasm of the pancreas, Intermittent jaundice, Weight...	ORPHA:97261
Branchiooculofacial Syndrome	Renal agenesis, Elbow flexion contracture, Renal cyst, Facial palsy, Hypospadias	OMIM:113620
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Keratitis, Renal agenesis, Eczematoid de...	OMIM:308205
Familial Gestational Hyperthyroidism	Weight loss, Hyperactivity, Agitation	ORPHA:99819
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Unilateral Polymicrogyria	Abnormal posturing, Pseudobulbar paralysis	ORPHA:268943
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Failure to thrive, Recur...	ORPHA:261552
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Carney-Stratakis Syndrome	Weight loss, Dysphagia	ORPHA:97286
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ankle flexion contracture, Long penis, Horseshoe kidney, Elbow flexion contract...	OMIM:268300
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asp...	ORPHA:79318
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,...	OMIM:301074
Leptospirosis	Conjunctival hyperemia, Hyperproteinemia, Thrombocytopenia, Anorexia	ORPHA:509
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Skeletal muscle atrophy, Anorexia	ORPHA:1969
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Weight loss	ORPHA:309031
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Pallister-Killian Syndrome	Camptodactyly of 2nd-5th fingers, Obesity, Congenital diaphragmatic hernia, Renal cyst, Macroglos...	OMIM:601803
Familial Thrombocytosis	Weight loss, Splenomegaly	ORPHA:71493
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Holt-Oram Syndrome	Elbow dislocation, Long philtrum, Cleft soft palate, Micrognathia, Limited elbow extension, Thora...	OMIM:142900
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss	ORPHA:677
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Marfan Syndrome	Skeletal muscle atrophy, Slender build, Attention deficit hyperactivity disorder, Cachexia, Arthr...	ORPHA:558
Malt Lymphoma	Posterior uveitis, Weight loss	ORPHA:52417
Seckel Syndrome	Cachexia	ORPHA:808
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Osteoarthritis	ORPHA:740
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced	OMIM:601992
Norrie Disease	Self-injurious behavior, Failure to thrive, Attention deficit hyperactivity disorder, Cachexia, M...	ORPHA:649
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Myocardial calcification, Splenomegaly	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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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

X-ray

Embryo LacZ

X-ray

Echo

Adult LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Pdss2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data