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Gene: Plau MGI:97611

Gene Summary

Name:

plasminogen activator, urokinase

Synonyms:

uPA, u-PA, urokinase-type plasminogen activator

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
decreased grip strength	Plau^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.01×10^-05
increased neutrophil cell number	Plau^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.65×10^-05
increased monocyte cell number	Plau^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.58×10^-05
decreased exploration in new environment	Plau^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.85×10^-05

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
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	50% (1 of 2)
Stomach	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
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	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	100% (2 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	0.0% (0 of 1)
Brain	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	Not available
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	Not available
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	Ambiguous

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.

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Plau 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 Plau (2 diseases)
Human diseases predicted to be associated with Plau (1181 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Quebec Platelet Disorder		Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Alzheimer Disease, Familial, 1		Dementia	OMIM:104300

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

Disease	Matching phenotypes	Source
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the nose, Pan...	ORPHA:2869
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Neoplasm of the lung, Neoplasm o...	ORPHA:424019
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Visceral Myopathy 2	Necrotizing enterocolitis, Barrett esophagus, Intestinal obstruction, Intestinal malrotation, Int...	OMIM:619350
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Autoimmunity, Abnorm...	ORPHA:611
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Hep...	OMIM:619858
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha...	ORPHA:251992
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Eosinophilia, Pneumonia, Thrombocyt...	OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Elevated circulating creat...	OMIM:158810
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased ...	OMIM:618986
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Adult-Onset Nemaline Myopathy	Paraproteinemia, Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Up...	ORPHA:171442
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Pulmonary Blastoma	Cough, Dyspnea, Recurrent pneumonia, Weight loss	ORPHA:64741
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L...	ORPHA:280356
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat...	ORPHA:171445
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis	OMIM:266265
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu...	OMIM:300635
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Thick eyebrow, Posteriorly rotated ears, Elevated circulating creatine k...	OMIM:300280
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Idiopathic Bronchiectasis	Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys...	ORPHA:60033
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Ab...	ORPHA:399081
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Nemaline Myopathy 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl...	OMIM:609273
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph...	OMIM:609200
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Lymphocy...	OMIM:308240
Nonaka Myopathy	Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti...	OMIM:605820
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, He...	ORPHA:369
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis	OMIM:613313
Hermansky-Pudlak Syndrome 2	Gastroesophageal reflux, Recurrent abscess formation, Neutropenia, Prolonged bleeding time, Hepat...	OMIM:608233
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati...	ORPHA:178464
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Anal fissure, Perianal abscess, Splenomegaly, Recurrent pneumonia, Rec...	OMIM:618935
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re...	ORPHA:93941
Tatsumi Factor Deficiency	Prolonged bleeding time	OMIM:272650
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ...	ORPHA:266
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Distal joint laxity, Flexio...	OMIM:616471
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Ap...	OMIM:619111
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Villous atrophy, Persistent EBV viremia, T lymphoc...	OMIM:619510
Blue Rubber Bleb Nevus	Rectal prolapse, Volvulus, Intestinal bleeding, Pathologic fracture, Hemangioma, Intussusception,...	OMIM:112200
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration...	ORPHA:254361
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra...	ORPHA:206599
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w...	ORPHA:206546
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Cough, Bronchiectasis, Hepatitis,...	ORPHA:33110
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Mitochondrial Myopathy With Diabetes	Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb ...	OMIM:500002
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Prolonged neonatal jaundice	ORPHA:446
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Elevated circulating creatine kin...	ORPHA:206569
Vici Syndrome	Elevated circulating creatine kinase concentration, Recurrent viral infections, Leukopenia, T lym...	OMIM:242840
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm...	OMIM:609524
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration	OMIM:609500
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill...	ORPHA:79124
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Idiopathic Achalasia	Cough, Wheezing, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Splen...	ORPHA:77297
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Interstitial Lung Disease 2	Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Elevated bronc...	OMIM:178500
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Anti-acetylcholine receptor antibody positivity, Flexion c...	OMIM:616313
Isolated Glycerol Kinase Deficiency	Myopathy, Osteoporosis, Elevated circulating creatine kinase concentration, Cryptorchidism	ORPHA:408
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration...	ORPHA:424107
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypoalbuminemia,...	OMIM:174900
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Merrf	Multiple lipomas, Ragged-red muscle fibers, Myopathy	ORPHA:551
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy, Elevated circulating creatine kinase concentratio...	OMIM:255100
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Hypospadias, Facial palsy, Elevated circulating creatine kinase conc...	OMIM:301830
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Immunodeficiency 61	Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Agammaglob...	OMIM:300310
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Elevated circulating creatine kinase concentration, Pyloric stenosis, Ragged-red muscle fibers, L...	OMIM:616924
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con...	OMIM:620386
Solitary Rectal Ulcer Syndrome	Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer	ORPHA:209964
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Necrobiosis Lipoidica	Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato...	OMIM:175200
Trimethylaminuria	Splenomegaly, Depression, Anemia, Neutropenia	OMIM:602079
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Right atrial enlargement, Global sys...	ORPHA:57777
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Epicanthus, Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Pachyg...	OMIM:235510
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer...	ORPHA:167
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Inclusion Body Myositis	Inflammatory myopathy, Dysphagia, Rimmed vacuoles	OMIM:147421
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased circulatin...	OMIM:611926
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Myasthenic Syndrome, Congenital, 25, Presynaptic	Flexion contracture, Myopathy, Generalized amyotrophy, Dysphagia, Joint hypermobility	OMIM:618323
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Cough, Dys...	ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decr...	ORPHA:169154
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg...	ORPHA:276435
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300695
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis	OMIM:232400
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Aspergillosis	Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Dacryocystitis, Increased circulating IgE ...	ORPHA:1163
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Joint stiffness, Proxi...	ORPHA:598
Felty Syndrome	Recurrent respiratory infections, Pericarditis, Recurrent urinary tract infections, Hepatomegaly,...	ORPHA:47612
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L...	ORPHA:86812
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233710
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Myopathy, High...	OMIM:201550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin...	ORPHA:411593
Nemaline Myopathy 7	Genu recurvatum, Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle ...	OMIM:610687
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ...	OMIM:167320
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy, Anti-acetylcholine receptor antibody positivity	OMIM:616314
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Epistaxis, Impaired neutrophi...	OMIM:260570
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m...	ORPHA:169160
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, High palate, Dysphagia, EMG: ...	OMIM:609284
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233690
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Vaginal fistula, Myopathy	ORPHA:2597
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Decreased plasma free carnitine,...	OMIM:619048
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Skeletal muscle atrophy, Myositis, Elevated circulating C-react...	OMIM:615934
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Abnormal pleura morphology, Increased circulating ferritin concentration, My...	ORPHA:210136
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Ptosis, Anal stenosis, Epicanthus, Telecanthus, Abnormality of...	ORPHA:235
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra...	ORPHA:1878
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Abnormal lactate dehydrogena...	ORPHA:42
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl...	ORPHA:424016
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Antinuclear antibody positivity, Limb-girdle ...	OMIM:608810
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, High palate, T...	OMIM:605637
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Combined Oxidative Phosphorylation Deficiency 30	Sensorineural hearing impairment, Gastroesophageal reflux, Left ventricular hypertrophy, Hyperala...	OMIM:616974
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Elbow flexion contracture, Hamstring contrac...	ORPHA:97244
Weiss-Kruszka Syndrome	Ptosis, Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Highly ...	OMIM:618619
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele...	OMIM:620249
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske...	OMIM:614321
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Anti-acetylcholine receptor antibody positivity, Limb muscle weakness, Myo...	OMIM:603034
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy,...	ORPHA:353327
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Thymoma	Myositis, Glomerulonephritis, Neoplasm of head and neck, Abnormal lymphocyte proliferation, Abnor...	ORPHA:99867
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Central Core Disease	Joint laxity, Multiple joint contractures, Congenital hip dislocation, Elevated circulating creat...	ORPHA:597
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:618129
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:607616
Noonan Syndrome 8	Epicanthus, Ventricular septal defect, Pleural effusion, Mitral regurgitation, Pulmonic stenosis,...	OMIM:615355
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Myocardial infarction, Intestinal perforation, Leuk...	ORPHA:90038
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Joubert Syndrome 9	Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ...	OMIM:214500
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Elevated creatine kinase after exercise, Multiple joint contractures...	ORPHA:352470
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Facial palsy, Flexion contracture, Skeletal m...	OMIM:613156
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Lymphoma, Bronchiectasis, Decreased circulating antibody level, Increase...	ORPHA:397596
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:306400
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir...	ORPHA:101330
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
X-Linked Immunoneurologic Disorder	Myopathy, Decreased circulating IgG2 level	ORPHA:2571
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux	OMIM:619793
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Arthritis, Myopathy, Dysphagia, Increased variability in mu...	ORPHA:397744
Scedosporiosis	Unusual skin infection, Pericarditis, Pneumonia, Bronchitis, Invasive fungal infection, Fungal me...	ORPHA:449280
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc...	OMIM:612937
Immunodeficiency 40	Hepatomegaly, Rectal fistula, Respiratory tract infection, Severe varicella zoster infection, Rec...	OMIM:616433
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Pulmonary hypop...	OMIM:616733
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchi...	ORPHA:486815
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c...	ORPHA:454836
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Respiratory insufficiency, Cachexia	ORPHA:157973
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Hepatitis	ORPHA:363523
Idiopathic Pulmonary Fibrosis	Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesophageal refl...	ORPHA:2032
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive	OMIM:614602
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Genu recurvatum, Elevated circulating creatine kinas...	ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Elevated circulating creatine kinase concentration, Simplified gyral pattern, Lissencephaly, Musc...	OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:615486
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Calf...	OMIM:611307
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Asthma, Hepatosple...	OMIM:606003
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El...	OMIM:608840
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Prolonged bleeding time, Gastritis, ...	ORPHA:809
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia...	ORPHA:1133
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Elevated circulating C-reactive protein concentratio...	ORPHA:79126
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy...	ORPHA:300179
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Pulmonary edema, Left ventricular hypertrophy,...	ORPHA:79330
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Cholelithiasis	ORPHA:848
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:619566
Congenital Respiratory-Biliary Fistula	Tracheal stenosis, Abnormality of the liver	ORPHA:2040
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Congenital Myopathy 10A, Severe Variant	Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Increa...	OMIM:614399
Mounier-Kühn Syndrome	Tracheal stenosis, Pneumonia	ORPHA:3347
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ...	ORPHA:829
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w...	ORPHA:254886
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ele...	ORPHA:81
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio...	ORPHA:97240
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric ste...	OMIM:613177
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Immunodeficiency, Common Variable, 2	Impaired T cell function, Autoimmunity, Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, ...	OMIM:240500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Pulmonary fibros...	OMIM:619767
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Telecanthus, Ventricular septal defect, Elevated circulating creatine kinase concen...	OMIM:301056
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Hepatomegaly, Sparse eyelashes, Elevated circulating creatine kinase con...	OMIM:615704
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Prolonged prothrombin time, Left ventricular hypertrophy, Volvulus,...	ORPHA:335
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Usual interstitial pneumonia, Gastroesophageal reflux, Bone marrow...	OMIM:614742
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor...	ORPHA:186
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Tubulointerstitial nephritis, Colitis, Psoriasiform dermatitis, H...	ORPHA:37042
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Usher Syndrome, Type 1M	Left ventricular hypertrophy, Prelingual sensorineural hearing impairment	OMIM:618632
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ...	ORPHA:171
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG...	OMIM:608423
Cln3 Disease	Vacuolated lymphocytes, T-wave inversion, Bradycardia, Dysphagia, Left ventricular hypertrophy	ORPHA:228346
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Donohue Syndrome	Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyper...	OMIM:246200
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ...	ORPHA:166002
Cystic Hamartoma Of Lung And Kidney	Hypertension, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Nemaline Myopathy 8	Facial palsy, Flexion contracture, Dysphagia, Myofibrillar myopathy, Nemaline bodies	OMIM:615348
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Pneumonia, Leukocytosis, BCGosis, De...	OMIM:619652
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Leukocyte Adhesion Deficiency	Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctivitis, Meningitis, Polycythemia, P...	ORPHA:2968
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious...	ORPHA:2552
Moynahan Syndrome	Cachexia	ORPHA:2574
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:310300
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ...	OMIM:615888
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu...	ORPHA:98813
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Failur...	OMIM:602579
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, Epicanthus, Upslanted palpebral fissure, Microtia, High palate, Joint con...	OMIM:248910
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Celiac disease, Desquamative interstiti...	OMIM:615952
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase concentration	OMIM:610717
Tuberculosis	Cough, Weight loss	ORPHA:3389
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Insulin resistance, Uv...	ORPHA:3452
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,...	OMIM:603689
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul...	ORPHA:3261
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Mildly elevated creatine kin...	ORPHA:399086
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormal cortical gyration, Intestinal malrotation, Hiatus herni...	ORPHA:2538
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez...	ORPHA:70475
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, Elevated circulating ...	OMIM:606612
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Congenital Disorder Of Glycosylation, Type Iig	Posteriorly rotated ears, Conductive hearing impairment, Giant platelets, Cleft palate, Recurrent...	OMIM:611209
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly	OMIM:238970
Wolman Disease	Splenomegaly, Hepatomegaly, Hepatic failure, Cachexia	ORPHA:75233
Familial Isolated Dilated Cardiomyopathy	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Legionnaires Disease	Pericarditis, Cough, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Respiratory in...	ORPHA:549
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy, Dysphagia	OMIM:605809
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Failure to thrive, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosin...	OMIM:308230
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen...	ORPHA:228426
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph...	ORPHA:98911
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:614654
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Hep...	OMIM:618278
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis	OMIM:178550
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Familial Colorectal Cancer Type X	Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc...	ORPHA:440437
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Type I diabetes mellitus, Failure...	OMIM:304790
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Gastroesophageal reflux, Pulmonary fibrosis, ...	ORPHA:220402
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal...	OMIM:619487
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy...	ORPHA:2596
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta...	ORPHA:440713
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Weight loss, Inflammation of the large...	ORPHA:26790
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers...	OMIM:300219
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati...	ORPHA:79322
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibr...	OMIM:619377
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Cholestasis, In...	OMIM:615895
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Proximal amyotrophy, Myop...	OMIM:605355
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, S...	OMIM:617713
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hiatus hernia	ORPHA:101009
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Pulmonary fibrosis, Myeloid...	OMIM:614743
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Tachypnea, Hepatocellular necrosis, Periportal fibrosis,...	OMIM:201475
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Mismatch Repair Cancer Syndrome 3	Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca...	OMIM:619097
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss	ORPHA:83469
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros...	ORPHA:541423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Hashimoto thyroiditis, Recurrent aphthous stomatitis, Otitis media, Chro...	ORPHA:275
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske...	OMIM:619790
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Weight loss,...	ORPHA:50251
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Nephronophthisis 16	Periportal fibrosis, Cholestasis	OMIM:615382
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice	ORPHA:199296
Tracheobronchopathia Osteochondroplastica	Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upper airway obstruction, Respiratory...	ORPHA:3348
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoim...	ORPHA:911
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Limb-g...	OMIM:112250
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le...	ORPHA:811
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, High palate, Generalized limb muscle atrophy	ORPHA:2598
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Leber Hereditary Optic Neuropathy	Myopathy	ORPHA:104
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ...	ORPHA:85443
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Facial palsy, Limb-girdle muscle weakness, Fl...	ORPHA:171436
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomer...	ORPHA:36234
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter, Cryptorchidism	OMIM:616816
Dominant Beta-Thalassemia	Diabetes mellitus, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Dyspnea, ...	ORPHA:231226
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Cryptorchidi...	ORPHA:169189
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Limb muscle weakness, High palate, Type 1 muscle fiber predominance, Dysphagia, Art...	OMIM:161800
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Leukopenia, Bone mar...	OMIM:613989
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Reduced forced expiratory volume...	OMIM:613385
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Spinal muscular atrophy, Recurrent pneumonia, Myopathy, Dysphagia, Weakn...	ORPHA:254875
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Rectal atresia, Small thenar eminence, Anal atresia	OMIM:613390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture, High palate	OMIM:618524
Braddock Syndrome	Congenital muscular torticollis, Epicanthus, Posteriorly rotated ears, Pulmonary fibrosis, Blepha...	ORPHA:52047
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Lichen Planopilaris	Hepatitis	ORPHA:525
Pseudoachondroplasia	Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye...	ORPHA:750
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary inters...	OMIM:612387
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega...	OMIM:610199
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Ragged-red mu...	ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Flexion contracture	OMIM:618237
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart...	ORPHA:99931
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Myopathy, Myofibrillar, 6	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Knee flexion ...	OMIM:612954
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Intestinal polyposis, Abnormal large int...	ORPHA:109
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr...	OMIM:618165
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc...	ORPHA:247585
Noonan Syndrome 10	Epicanthus, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Mitral valve prolapse, Pl...	OMIM:616564
Christianson Syndrome	Arthrogryposis multiplex congenita, Cachexia	ORPHA:85278
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial infarction, Sensorineu...	OMIM:155100
Riboflavin Transporter Deficiency	Respiratory insufficiency, Cachexia	ORPHA:97229
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, ...	OMIM:255320
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:98855
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
King-Denborough Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, B...	OMIM:619542
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin...	ORPHA:44890
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Achalasia, Emphysema, A...	ORPHA:324
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Elevated circulating creatine kinase concentration, Myopathy, Shoulder girdle muscle weakness, Ge...	OMIM:615156
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology...	ORPHA:75840
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,...	OMIM:216360
Scleromyxedema	Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy...	ORPHA:167635
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast...	ORPHA:98848
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul...	OMIM:300972
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Hypoplasia of the ear cartilage, Hepatomegaly	ORPHA:66661
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Thyroid carcino...	ORPHA:331235
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent p...	OMIM:219700
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Viral infect...	OMIM:154275
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia	ORPHA:2930
Mcdonough Syndrome	Cachexia	ORPHA:2471
Asbestos Intoxication	Right ventricular failure, Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, A...	ORPHA:2302
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Flexion contracture, High palate, Arthrogryposis multiplex congenita, Increased e...	ORPHA:178148
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly, Increased circulat...	ORPHA:824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, High, narrow palate, Flexion ...	ORPHA:171433
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E...	OMIM:609452
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:353
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Respiratory insufficiency, Respiratory fai...	OMIM:618186
Renpenning Syndrome	Diabetes mellitus, Cachexia	ORPHA:3242
Cantu Syndrome	Epicanthus, Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenita...	OMIM:239850
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Failure to thrive in infancy, Cachexia	OMIM:616801
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase con...	OMIM:248800
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul...	OMIM:619355
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli...	OMIM:617241
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Reticulonodular pattern on pulm...	ORPHA:133
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Posteriorly rotated ears, Highly arched eyebrow, Sensorineural hearing imp...	OMIM:239300
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, External genital hypoplasia, Hip dislocation, Myopathy, Abnormal circula...	ORPHA:559
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Viral infect...	OMIM:154276
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Hepatospl...	OMIM:209950
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I...	OMIM:301000
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Hypophosphatasia, Childhood	Myopathy, Craniosynostosis	OMIM:241510
Congenital Enterovirus Infection	Respiratory distress, Skin rash, Myocarditis, Hepatitis, Cholestasis, Pleural effusion, Hepatic f...	ORPHA:292
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve...	ORPHA:230851
Carcinoid Syndrome	Pulmonary carcinoid tumor, Myopathy, Small intestine carcinoid, Abnormal B-type natriuretic pepti...	ORPHA:100093
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:98863
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, ...	ORPHA:508
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:98853
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Weight los...	ORPHA:79127
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas...	ORPHA:90291
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Overlap Myositis	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Rayn...	ORPHA:206572
Mucolipidosis Type Ii	Aortic regurgitation, Recurrent respiratory infections, Hip contracture, Abnormal atrioventricula...	ORPHA:576
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Gastroesophageal reflux, Atrial sept...	OMIM:194050
Griscelli Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Hepatitis	ORPHA:381
Acquired Partial Lipodystrophy	Myopathy, Autoimmunity	ORPHA:79087
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Cholangitis, Portal hypertension, ...	ORPHA:731
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Cat Eye Syndrome	Anal stenosis, Epicanthus, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Rec...	OMIM:115470
Orofaciodigital Syndrome Type 4	Joint dislocation, Monorchism, Camptodactyly of finger, High, narrow palate, Abnormal joint morph...	ORPHA:2753
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Asthma,...	OMIM:203800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ...	ORPHA:1839
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxe...	ORPHA:79128
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology, Cleft palate	ORPHA:398189
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit...	ORPHA:572
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Myopathy, High palate, Cervical C2/C3 vertebral fusion, Acetabular dysplasia...	OMIM:616549
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Posteriorly rotated ears, Pyloric stenosis, Anteriorly placed anus, Small thenar emin...	OMIM:619148
Flynn-Aird Syndrome	Type II diabetes mellitus, Cachexia	ORPHA:2047
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation	OMIM:610688
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary venous hypertensio...	ORPHA:90060
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Vasculitis, Recurrent pneumonia, Decreased...	OMIM:617718
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Weight loss, Cough	ORPHA:391
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Calcinosis, Angina pectoris, Tela...	ORPHA:93672
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal subcutaneous fat tissue distr...	OMIM:212065
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ...	OMIM:273800
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Sparse eyelashes, Esophageal stricture, Nasolacrimal duct obstruct...	OMIM:224230
Surfactant Metabolism Dysfunction, Pulmonary, 2	Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des...	OMIM:610913
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy, Nonketotic hyperglycinemia	ORPHA:401866
Glycogen Storage Disease Due To Acid Maltase Deficiency	Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contracture, Lower limb...	ORPHA:365
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Hematological neoplasm, Limitation of joint mobility, Systemic lupus erythematosus,...	ORPHA:399180
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Ocular albinism, Hematochezia, Cardiomyopathy, Inflammation o...	OMIM:203300
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Muscular d...	OMIM:615980
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Dysphagia, Calf muscle hypertrophy,...	OMIM:619178
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Bullous Pemphigoid	Diabetes mellitus, Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Pulmonary fibrosis, Usual interstitial pneumonia	OMIM:616373
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:261670
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Orthostatic hypotension, Epicanthus, Hiatus hernia, Dermatochalasis, Rec...	ORPHA:287
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper...	ORPHA:275761
Cranioectodermal Dysplasia 2	Unilateral ptosis, High palate, Atrial septal defect, Patent foramen ovale, Simple ear, Hepatomeg...	OMIM:613610
Acute Lung Injury	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circulating C-react...	ORPHA:178320
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,...	ORPHA:98849
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle...	ORPHA:254892
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy	ORPHA:26792
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ...	ORPHA:90003
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Elevated bronchoalveola...	OMIM:610978
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Pulmonary ar...	OMIM:215600
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Eosinophilic Fasciitis	Fasciitis, Myositis, Weight loss, Arthritis, Cellulitis	ORPHA:3165
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Myasthenia Gravis	Myositis, Dyspnea, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis	ORPHA:589
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Extremely elevated creatine kinase, Upper limb muscle weakness, Distal amyotrophy, EMG: myopathic...	ORPHA:99939
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal dental enamel morphology, Cheilitis, Hepatitis, Cough	ORPHA:1334
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Left ventri...	ORPHA:251274
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Macrotia, High palate, Pulmonary fibrosis, Myocardial infarction	ORPHA:457240
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Apnea, Portal hypertension, Abnorma...	ORPHA:1454
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Abnormality of the gastrointestinal tract...	ORPHA:85450
Adrenomyodystrophy	Myopathy, Abnormal intestine morphology, Reduced bone mineral density	ORPHA:977
Reticular Dysgenesis	Chronic otitis media, Failure to thrive, Skin rash, Weight loss	ORPHA:33355
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju...	OMIM:614700
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic or...	ORPHA:83471
Beta-Thalassemia Major	Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaund...	ORPHA:231214
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Osteoporosis	OMIM:618234
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Pericardial effusion, Splenomegaly,...	OMIM:181000
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hy...	OMIM:610965
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Myopathy	OMIM:612783
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Cough	ORPHA:319218
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Dyspnea, Hepatitis, Uvei...	ORPHA:728
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali...	ORPHA:73263
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Abnormal sperm motility, Abnorma...	ORPHA:244
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes...	OMIM:609560
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating c...	ORPHA:610
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir...	ORPHA:119
Surfactant Metabolism Dysfunction, Pulmonary, 3	Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq...	OMIM:610921
Axial Osteomalacia	Myopathy, Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase conc...	OMIM:109130
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy	ORPHA:91130
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea...	OMIM:255160
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Esophageal varix,...	ORPHA:367
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Joint laxity, Aganglionic megacolon, High, narrow palate, Myopathy, Pheochro...	OMIM:162300
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscular volume,...	OMIM:127550
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy	OMIM:618236
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Myopathy, Muscular dystrophy, I...	OMIM:602541
Erythrokeratodermia Variabilis	Diabetes mellitus, Skin rash, Weight loss	ORPHA:317
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Recurrent intrapulmo...	ORPHA:900
Combined Immunodeficiency Due To Crac Channel Dysfunction	Autoimmunity, Pneumonia, Myopathy, Neoplasm, Chronic otitis media	ORPHA:169090
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Bardet-Biedl Syndrome	Hepatic fibrosis, Obesity	ORPHA:110
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of...	ORPHA:221
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Xp21 Deletion Syndrome	Joint laxity, Decreased muscle mass, Hypogonadotropic hypogonadism, Elevated circulating creatine...	ORPHA:261476
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Prominent antitragus, Elbow...	OMIM:245600
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Pelizaeus-Merzbacher Disease	Respiratory insufficiency, Failure to thrive in infancy, Cachexia	ORPHA:702
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Gastritis, Small for gestational age, Splenomegaly, Abnormality of...	ORPHA:84064
Coffin-Lowry Syndrome	Telecanthus, Highly arched eyebrow, Rectal prolapse, Sensorineural hearing impairment, Narrow pal...	OMIM:303600
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ...	ORPHA:142
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Malabsorption, Congestive heart failure, Flexion contracture, Xerosto...	ORPHA:220393
Mucopolysaccharidosis Type 7	Splenomegaly, Inguinal hernia, Umbilical hernia, Hepatitis	ORPHA:584
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Atopic dermatitis, Weight loss, C...	ORPHA:171876
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Respiratory insufficie...	OMIM:208500
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Macrotia, Transient hyp...	ORPHA:3132
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype...	OMIM:620005
Tetrasomy 12P	Cachexia	ORPHA:884
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec...	ORPHA:57
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Rhinitis	ORPHA:507
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, Rayn...	ORPHA:3260
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung ade...	OMIM:618913
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Epicanthus, Rectal prolapse, Gastroesophageal reflux, High pa...	OMIM:617157
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Weight loss	ORPHA:168811
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen...	OMIM:612852
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:100024
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Weight loss	ORPHA:545
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke...	OMIM:617321
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Late-Onset Isolated Acth Deficiency	Hypoglycemia, Hepatitis, Weight loss, Type I diabetes mellitus, Failure to thrive, Hashimoto thyr...	ORPHA:199299
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Acute pancreatitis, Astrocytoma, Autoimmunity, Lymphoma, Polycysti...	ORPHA:79086
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonad...	ORPHA:227990
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Hepatitis, Decreased l...	ORPHA:415
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibros...	OMIM:616263
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hepatosplenomegaly	ORPHA:86884
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Skin rash, Weight loss	ORPHA:33276
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Splenomegaly, Abnormality of the panc...	OMIM:222470
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Oral ...	OMIM:613990
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Abnormal pancreas morph...	ORPHA:48818
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Atelectasis, Leukocytosis, Bronchiectasis, Abnormal pulmon...	OMIM:620233
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Myopat...	ORPHA:90289
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonad...	ORPHA:227982
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Dementia, ...	ORPHA:101096
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Respirator...	ORPHA:206436
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Hyperammonemia, Recurrent infections, Iron deficiency anemia, Hypoalb...	ORPHA:1667
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Tachycardia, Dilated cardiomyopathy, Bilateral sensorineural hearing impairment, Le...	OMIM:618321
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Epistaxis, Malabsorption, Ocular albinism, Cardiomyopathy, Long eyel...	ORPHA:79430
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulm...	ORPHA:99745
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Respiratory insufficiency, Conjunctivit...	OMIM:608710
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop...	OMIM:615846
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Sengers Syndrome	Osteopenia, Myopathy	OMIM:212350
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia	OMIM:620365
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Hypopl...	OMIM:254940
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Conductive hearing impairment, Up...	ORPHA:2135
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Myopathy, Hypogonadism, Dysphagia, Weakness of facial ...	ORPHA:98673
Baller-Gerold Syndrome	Carpal synostosis, Carpal bone aplasia, Bicoronal synostosis, Limited elbow movement, Sagittal cr...	OMIM:218600
Spinocerebellar Ataxia With Epilepsy	Myopathy	ORPHA:254881
Laryngeal Neuroendocrine Tumor	Exertional dyspnea, Weight loss	ORPHA:100083
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia	ORPHA:813
Bardet-Biedl Syndrome 1	Diabetes mellitus, Asthma, Insulin resistance, Biliary tract abnormality, Obesity, Truncal obesit...	OMIM:209900
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu...	OMIM:116920
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal myocardiu...	ORPHA:77259
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary interstitial morpholog...	OMIM:616414
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Mitral valve calcification, Abnormal heart valve ...	ORPHA:77261
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Pulmonary arterial hypertension, Fai...	ORPHA:974
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypertension, Hypokalemia, Decreased circulating renin level	ORPHA:320
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole...	OMIM:124000
Microphthalmia, Syndromic 1	Ptosis, Aganglionic megacolon, Bicuspid aortic valve, Abnormal pinna morphology, High, narrow pal...	OMIM:309800
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast...	OMIM:301074
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle muscular dystrophy, Mus...	ORPHA:369840
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Sensorineural hearing impairment, Re...	ORPHA:209905
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferas...	OMIM:207900
Hermansky-Pudlak Syndrome 4	Absent platelet dense granules, Ocular albinism, Epistaxis, Pulmonary fibrosis	OMIM:614073
Tracheal Agenesis	Tracheal atresia, Respiratory insufficiency	ORPHA:3346
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Keratoconjunctivitis sicca, Respiratory failure, Hep...	ORPHA:14
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Rett Syndrome	Apnea, Cachexia, Intermittent hyperventilation	OMIM:312750
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Polycystic ovaries, Skeletal muscle hypertrophy, Myopa...	ORPHA:2348
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Splenomegaly, Contracture of the distal i...	OMIM:607015
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:616239
Erdheim-Chester Disease	Abnormal pericardium morphology, Congestive heart failure, Abnormal pulmonary interstitial morpho...	ORPHA:35687
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Weight loss, Bronchospas...	ORPHA:97287
Rajab Interstitial Lung Disease With Brain Calcifications 2	Decreased muscle mass, Hypertriglyceridemia, Microcytic anemia, Abnormal pulmonary interstitial m...	OMIM:619013
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Respiratory insufficiency	ORPHA:2031
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Pancre...	ORPHA:188
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hyp...	ORPHA:2298
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ...	ORPHA:91139
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Fontaine Progeroid Syndrome	Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdominal wall musculature, Synophr...	OMIM:612289
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Anal fissure, Perianal dermatitis, Horizontal eyebrow, Recur...	ORPHA:294023
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Ske...	ORPHA:79083
Carnitine Deficiency, Systemic Primary	Myopathy, Elevated circulating creatine kinase concentration, Reduced muscle carnitine level	OMIM:212140
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, Hypocholesterolemia, Left vent...	ORPHA:31150
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Patchy osteosclerosis, Cryptorch...	ORPHA:2323
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Dyspnea, Weight loss, Elevated circulating alkaline...	ORPHA:67
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie...	OMIM:619381
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Fat malabsorption, Steatorrhea	ORPHA:71
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia	OMIM:200995
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo...	ORPHA:247798
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Respiratory failure, Chronic otitis media	ORPHA:3226
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Pulmonary fibro...	OMIM:612199
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Upper-limb joint contracture, Cachexia	ORPHA:300605
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit...	ORPHA:391487
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	ORPHA:682
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Rheumatoid Arthritis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes...	OMIM:180300
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Sapho Syndrome	Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Skin rash, Pustule...	ORPHA:793
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Recurrent joint dislocation, Recurrent skin infections, Craniosynostosis, ...	ORPHA:2953
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Respiratory insufficiency, Weight loss, Hernia, Failure to thrive	ORPHA:1842
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial palsy, Limited wrist e...	ORPHA:98915
Cystinosis	Myopathy, Rickets, Malabsorption	ORPHA:213
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Viral hepatitis, Herpes simplex encephalitis,...	ORPHA:83597
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple...	OMIM:266920
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Neoplasm...	ORPHA:556
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Mitral valve calcification, Bronchitis, Right ventricular failure, Increased pulmon...	ORPHA:60025
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Ocular albinism, Abnormal pulmonary...	OMIM:617050
Mucopolysaccharidosis, Type X	Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve...	OMIM:619698
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis	ORPHA:319251
Familial Adenomatous Polyposis	Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Psoriasiform dermatitis, Hepatitis, Type I diabetes mellitus, Abnormal ductus choled...	ORPHA:436252
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis	OMIM:614091
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Portal hypertension, Splenomegaly, Weight lo...	ORPHA:465508
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Generalized joint laxity, Increased variability in muscle fiber diameter, Increased muscle glycog...	ORPHA:502423
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Weight loss, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ...	ORPHA:324964
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Centrally nucleated ske...	OMIM:607459
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity	ORPHA:85293
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Gastrointestinal dys...	ORPHA:330001
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop...	OMIM:255125
Joubert Syndrome 1	Central apnea, Hepatic fibrosis, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:213300
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Leukopeni...	ORPHA:797
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ...	ORPHA:2331
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged...	OMIM:258450
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Abnormal pulmonary interstiti...	OMIM:230800
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Muscle-Eye-Brain Disease	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:588
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Abnormal nasolacrimal system morphology, Congenital diaphragmatic hernia...	ORPHA:2556
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Osteoly...	ORPHA:52430
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Meckel Syndrome 14	Pneumothorax, Hepatic fibrosis, Cardiorespiratory arrest	OMIM:619879
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Respiratory failure, Tracheal stenosis	OMIM:617809
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Hypertriglyceridemia, Elevated...	OMIM:619127
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Palpebral edema, Elevated circulating C-...	ORPHA:50918
Immunodeficiency 9	Stomatitis, Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:612782
Reactive Arthritis	Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Abnormal pleura morpholog...	ORPHA:29207
Rhabdoid Tumor	Neoplasm of the liver, Respiratory insufficiency, Weight loss	ORPHA:69077
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Aplasia of the pectorali...	ORPHA:1358
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Type 2 muscle fiber ...	OMIM:619743
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp...	ORPHA:2072
Acute Myelomonocytic Leukemia	Dyspnea, Weight loss	ORPHA:517
Chronic Hiccup	Weight loss	ORPHA:396
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Tracheal atresia, Respiratory insufficiency	OMIM:601612
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy	ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, High palate, Increased variability in muscle fiber diameter	OMIM:604377
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase c...	OMIM:620326
Distal Deletion 12Q	Telecanthus, High, narrow palate, Esophageal atresia, Pyloric stenosis, Elbow flexion contracture...	ORPHA:96149
Cranioectodermal Dysplasia 1	Hepatomegaly, Inguinal hernia, Malformation of the hepatic ductal plate, Tubulointerstitial nephr...	OMIM:218330
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Dys...	ORPHA:100085
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Chronic pancreatitis, Generalized lim...	ORPHA:98908
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, Inflammation ...	ORPHA:906
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Synophrys, Large fleshy ears, High palate, Gastroesophageal reflux, Atrial septal defect, Promine...	ORPHA:280633
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated ...	ORPHA:79099
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Dyspnea, Abnormal mesentery mo...	ORPHA:284
Keutel Syndrome	Recurrent otitis media, Pulmonary arterial hypertension, Tracheal atresia, Recurrent sinusitis	ORPHA:85202
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Hereditary Xanthinuria	Arthropathy, Myopathy, Rheumatoid arthritis, Gout	ORPHA:3467
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Pachygyria, Rhabdomyolysis, Abnormality of ne...	ORPHA:157
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Recurrent infections, Ly...	OMIM:258360
Schwartz-Jampel Syndrome	Hip contracture, Inguinal hernia, Apnea, Shoulder flexion contracture, Cachexia, Respiratory insu...	ORPHA:800
Arima Syndrome	Hepatomegaly, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Hepatitis, Cholestasis	ORPHA:562
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Leukopenia, Inc...	ORPHA:1304
Idiopathic Camptocormia	Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl...	ORPHA:1320
Isaacs Syndrome	Weight loss	ORPHA:84142
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Pulmonary fibrosis, Sea-blue histiocytosis, D...	OMIM:607625
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Epican...	ORPHA:466791
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic ...	ORPHA:509
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Thyroiditis, Bilia...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Thyroiditis, Bilia...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Thyroiditis, Bilia...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Thyroiditis, Bilia...	ORPHA:881
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Aortic valve atresia, Simplified gy...	OMIM:220111
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hepatic fibrosis, Decreased bo...	OMIM:615273
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Sparse eyelashes, Esophageal stricture, Anal mucosal leukop...	OMIM:305000
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, He...	ORPHA:90062
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Glycogen Storage Disease Xii	Elevated circulating creatine kinase concentration, Cholelithiasis, Myopathy, Cholecystitis, Incr...	OMIM:611881
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cor pulmonal...	OMIM:263000
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	OMIM:300653
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovitis, Uveitis, Enth...	ORPHA:85408
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ...	ORPHA:85414
Classic Pantothenate Kinase-Associated Neurodegeneration	Cough, Aspiration pneumonia, Weight loss	ORPHA:216866
Eosinophilic Gastroenteritis	Asthma, Atopic dermatitis, Allergic rhinitis, Weight loss	ORPHA:2070
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis, Tracheal sten...	ORPHA:64744
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration	ORPHA:228305
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Asthma, Endocarditi...	ORPHA:183
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Diabetes mellit...	ORPHA:191
Mcleod Syndrome	Myopathy, Rhabdomyolysis, Reduced haptoglobin level, Elevated circulating creatine kinase concent...	OMIM:300842
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh...	ORPHA:100026
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma	OMIM:612591
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Joint stiffness, Myopathy, Gastric ulcer, Hypogonadis...	ORPHA:3463
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities, Narrow palate	ORPHA:457365
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Sepsis, Abnormal left ventricular function, Leukopenia, Protein-...	OMIM:619991
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Dysphagia	OMIM:613077
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Hypogonadism, Dysphagia, EMG: myopathic abnormali...	OMIM:609286
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, T...	OMIM:212750
Immunodeficiency 31C	Hepatomegaly, Osteomyelitis, Diabetes mellitus, Eczema, Cough, Splenomegaly, Bronchiectasis, Chro...	OMIM:614162
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Trisomy 18	Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia	ORPHA:3380
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas...	ORPHA:398063
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cholestasis, Atypi...	ORPHA:198
Acyl-Coa Dehydrogenase 9 Deficiency	EMG: myopathic abnormalities, Myopathy, Elevated creatine kinase after exercise	ORPHA:99901
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Abnormality of the pancreas, Liver abscess, Weight loss	ORPHA:54251
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Decreased muscle mass, High, narrow palate, Generalized joint laxi...	ORPHA:1900
Microform Holoprosencephaly	Hypoplasia of penis, Cleft palate, Hemangioma, Ambiguous genitalia, EMG: myopathic abnormalities,...	ORPHA:280200
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat...	ORPHA:1333
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Respiratory insufficiency, Periportal f...	OMIM:269860
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis, Hearing impairment	ORPHA:243
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:609015
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Slender buil...	ORPHA:1328
Igg4-Related Aortitis	Increased inflammatory response, Asthma, Weight loss	ORPHA:449400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Pancreatitis, Proximal upper limb muscle hypertrophy, ...	ORPHA:280365
Melas	Hypoparathyroidism, Hypogonadotropic hypogonadism, Intestinal pseudo-obstruction, Gastrointestina...	ORPHA:550
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Myeloproliferative disorder...	ORPHA:79456
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Neutral Lipid Storage Disease With Ichthyosis	Myopathy, Abnormal circulating creatine kinase concentration, Shoulder girdle muscle weakness, In...	ORPHA:98907
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Por...	OMIM:619534
Huntington Disease-Like 2	Weight loss	OMIM:606438
Polyarteritis Nodosa	Pericarditis, Weight loss	ORPHA:767
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Myopathy	ORPHA:2238
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Ankylosis, Flexion contr...	OMIM:616503
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Cleft palate, Myopathy, Duodenal atresia	OMIM:243605
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Abnormal ci...	ORPHA:263297
Secondary Short Bowel Syndrome	Failure to thrive, Enterocolitis, Cholestasis, Weight loss	ORPHA:95427
Xanthinuria, Type I	Myopathy, Pyelonephritis	OMIM:278300
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Bicuspid aortic valve, Mitral regurgitation, High palate	OMIM:617168
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Respiratory distress, Tracheoesophageal fis...	ORPHA:537
Alg9-Cdg	Omphalocele, Hepatomegaly, Lipodystrophy, Asthma, Periportal fibrosis, Hepatic cysts	ORPHA:79328
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom...	ORPHA:729
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Nephroblastoma	Neoplasm of the liver, Weight loss	ORPHA:654
Nijmegen Breakage Syndrome	Respiratory failure, Recurrent pneumonia, Cachexia	ORPHA:647
Orofaciodigital Syndrome I	Pancreatic cysts, Enamel hypoplasia, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Spondyloepimetaphyseal Dysplasia, Shohat Type	Tracheal stenosis, Premature osteoarthritis, Upper airway obstruction, Hepatosplenomegaly	ORPHA:93352
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Facial hypotonia, Pneumonia, Craniosynostosis, Joint stiffness, Osteoly...	ORPHA:309282
Pendred Syndrome	Tracheal stenosis, Respiratory insufficiency	ORPHA:705
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, ...	OMIM:157640
Combined Oxidative Phosphorylation Deficiency 11	Myopathy, Pachygyria	OMIM:614922
Vacterl/Vater Association	Omphalocele, Congenital diaphragmatic hernia, Abnormality of the pancreas, Abnormality of the gal...	ORPHA:887
Congenital Myasthenic Syndrome	Joint laxity, Congenital hip dislocation, Limb-girdle muscle weakness, Anti-acetylcholine recepto...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Congenital hip dislocation, Limb-girdle muscle weakness, Anti-acetylcholine recepto...	ORPHA:98914
Fusariosis	Brain abscess, Myositis, Lung abscess, Pneumonia, Abnormality of the spleen, Invasive fungal infe...	ORPHA:228119
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Apnea, ...	ORPHA:20
Chanarin-Dorfman Syndrome	Myopathy	OMIM:275630
Gm1 Gangliosidosis	Inguinal hernia, Camptodactyly of finger, Splenomegaly, Hepatosplenomegaly, Weight loss, Decrease...	ORPHA:354
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Marfan Syndrome	Inguinal hernia, Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Slender build	ORPHA:558
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	ORPHA:713
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava...	OMIM:619611
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Eczema, Gastrointestinal dysmotility, Myopa...	ORPHA:506
Seckel Syndrome	Abnormal dental enamel morphology, Cachexia	ORPHA:808
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Progressive hearing impairment, Lymphocytosis, Hypochromi...	ORPHA:514
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Weight loss	ORPHA:100080
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology	ORPHA:1332
Stormorken Syndrome	Myopathy, Elevated circulating creatine kinase concentration	OMIM:185070
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Ambiguous genitalia, Anal atresia	OMIM:617666
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities	OMIM:618822
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Jaundice, Weight loss, Increased circulating lactate dehydrogenase conc...	ORPHA:370348
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis	OMIM:263520
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Thymic Carcinoma	Cough, Dyspnea, Weight loss	ORPHA:99868
Congenital Myopathy 17	Cleft palate, Myopathy, Distal arthrogryposis, High palate, Diaphragmatic eventration	OMIM:618975
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Autoimmune Pulmonary Alveolar Proteinosis	Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO,...	ORPHA:747
Stickler Syndrome	Abnormal dental enamel morphology, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slend...	ORPHA:828
Chondrodysplasia Punctata 2, X-Linked Dominant	Tracheal stenosis, Failure to thrive, Erythroderma	OMIM:302960
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Jung Syndrome	Tracheal stenosis	ORPHA:2321
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Chitayat Syndrome	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology	OMIM:617180
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Respiratory distress, Skin rash, Maculopapular exanthema, Crackles...	ORPHA:319213
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Confusion	ORPHA:36238
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Pylor...	ORPHA:1606
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Dysphagia	ORPHA:684
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis	OMIM:200400
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rheumatoid factor posi...	ORPHA:49041
Glycerol Kinase Deficiency	Chronic pancreatitis, Cryptorchidism, Osteoporosis, Myopathy, Muscular dystrophy, Pathologic frac...	OMIM:307030
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Periventricular heterotopia, Knee flexion con...	OMIM:618733
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr...	ORPHA:117
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Weight loss	ORPHA:100082
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Malignant Atrophic Papulosis	Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion	ORPHA:679
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Increas...	ORPHA:565612
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities, Ectopic anus, Cleft palate	ORPHA:2549
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Myopathy, Cholecystitis, Cholelithiasis	OMIM:615512
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis	OMIM:601427
Alström Syndrome	Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, H...	ORPHA:64
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Skin rash, Intrahepatic cholestasis, E...	ORPHA:97280
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis, Inguinal hernia	OMIM:620183
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Tachypnea, Weight loss, Cough, Hyperglycemia	ORPHA:134
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Recurrent urinary tract infections, Intestinal malrotation, Portal hypertension, Es...	OMIM:613658
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia, Hernia, Tracheal stenosis	OMIM:217980
Giant Cell Arteritis	Pericarditis, Epistaxis, Weight loss, Arthritis, Cough, Hepatic failure	ORPHA:397
Ménétrier Disease	Giant hypertrophic gastritis, Weight loss	ORPHA:2494
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Small for gestational age, Elevated circulati...	OMIM:243800
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Dislocated wrist, Osteoporosis, ...	ORPHA:536545
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Flexion contracture, Myopathy	OMIM:201470
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Dyspnea, Weight loss, Restrictive ventilato...	ORPHA:36426
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Abnormal circulating enzyme concentration or activity, Neonatal respiratory distre...	ORPHA:79345
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Eos...	OMIM:613795
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Urin...	ORPHA:449395
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Acute Promyelocytic Leukemia	Epistaxis, Productive cough, Weight loss, Stomatitis, Exertional dyspnea	ORPHA:520
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Ankle flexion contracture, Hypercapnia, Respiratory insuffici...	ORPHA:2020
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Cleft palate, Abnormal heart ...	ORPHA:284984
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Respiratory insufficiency due to muscl...	ORPHA:97282
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, ...	ORPHA:744
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Thymic Neuroendocrine Tumor	Cough, Abnormal breath sound, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Cleft soft palate, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Leber Optic Atrophy	Myopathy	OMIM:535000
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97278
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Weight loss	ORPHA:764
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Respiratory insufficiency due to muscle weakness, Weight loss, ...	ORPHA:2905
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Intrahepatic cholestasis, Extrahepatic...	ORPHA:97283
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Distal amy...	OMIM:164310
Zollinger-Ellison Syndrome	Jaundice, Extrahepatic cholestasis, Weight loss, Multiple lipomas, Esophagitis, Lipoma, Increased...	ORPHA:913
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Dyspnea, Weight loss, Aspiration pneumonia, Cough, Failure to thrive	ORPHA:1018
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Cachexia, Splenomegaly, Dyspnea, Pulmonary venous hypertension	ORPHA:75565
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Lower limb amyotrophy, L...	OMIM:300257
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Bronchospasm, Hepatic failure	ORPHA:100075
Pmm2-Cdg	Elevated hepatic transaminase, Respiratory distress, Pericarditis, Multiple joint contractures, L...	ORPHA:79318
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Necrotizin...	ORPHA:423
Geleophysic Dysplasia 1	Hepatomegaly, Camptodactyly of finger, Tracheal stenosis, Joint contracture of the hand, Wrist fl...	OMIM:231050
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Gastrointestinal dysmot...	ORPHA:480864
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Usher Syndrome	Myopathy	ORPHA:886
Imerslund-Gräsbeck Syndrome	Failure to thrive, Angular cheilitis, Weight loss	ORPHA:35858
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of the pancreas, Respiratory insufficiency, Tracheal stenosis, Failure ...	ORPHA:175
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Surfactant Metabolism Dysfunction, Pulmonary, 1	Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv...	OMIM:265120
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia	ORPHA:1303
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Cardiomyopathy, Familial Hypertrophic, 4	Myopathy	OMIM:115197
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97261
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Rickets, Genu valgum, Myopathy, Dysphagia, Hy...	OMIM:219800
Pancreatoblastoma	Jaundice, Pancreatic calcification, Weight loss	ORPHA:677
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Pulmonary fibrosis, Decreased circul...	ORPHA:3337
Penile Agenesis	Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Absent penis, Ambig...	ORPHA:49
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Protruding tongue, A...	ORPHA:2388
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Urinary bladder inflammation, Dyspnea, Flexion contract...	ORPHA:99921
Liposarcoma	Weight loss	ORPHA:69078
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Increased circulating lactate dehydr...	OMIM:613673
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Tracheal stenosis, Truncal obesity	ORPHA:2637
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Primary Intestinal Lymphangiectasia	Pleural effusion, Peritoneal effusion, Weight loss	ORPHA:90362
Congenital Tricuspid Stenosis	Carcinoid tumor, Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Fatal Familial Insomnia	Apnea, Weight loss	OMIM:600072
Frontometaphyseal Dysplasia 2	Hip contracture, Elbow contracture, Ulcerative colitis, Stridor, Camptodactyly, Tracheal stenosis...	OMIM:617137
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Flexion contracture, Osteolysis, Myopathy, Hypogonadism	ORPHA:3042
Hypomandibular Faciocranial Dysostosis	Tracheal stenosis	ORPHA:1790
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic insufficiency	ORPHA:309031
Castleman Disease	Cough, Dyspnea, Jaundice, Weight loss	ORPHA:160
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Weight loss, Lipoma, Pancreatitis, Chondrocalcinosis	ORPHA:143
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Barth Syndrome	Skeletal myopathy	OMIM:302060
Tetraamelia-Multiple Malformations Syndrome	Tracheal stenosis	ORPHA:3301
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Sparse eyelashes, Sparse eyebrow, Abnormal pulmonary interstiti...	OMIM:614748
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Myopathy	OMIM:261740
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Tracheal stenosis, Absent gallbladder, Respiratory insufficiency	ORPHA:163979
Craniofacioskeletal Syndrome	Tracheal stenosis, Absent gallbladder	OMIM:300712
Familial Glucocorticoid Deficiency	Failure to thrive, Ketotic hypoglycemia, Hypoglycemic seizures, Weight loss	ORPHA:361
8P23.1 Microdeletion Syndrome	Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
Sacral Defect With Anterior Meningocele	Sacral lipoma, Rectal abscess	OMIM:600145
Adrenocortical Carcinoma	Diabetes mellitus, Increased body weight, Weight loss	ORPHA:1501
Familial Thrombocytosis	Splenomegaly, Pulmonary arterial hypertension, Weight loss	ORPHA:71493
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Malt Lymphoma	Posterior uveitis, Weight loss	ORPHA:52417
Norrie Disease	Diabetes mellitus, Failure to thrive, Cachexia	ORPHA:649
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Hepatic failure, Extrahepatic cholestasis, Weight loss	ORPHA:100078
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Kerat...	ORPHA:79078
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass, Dysphagia	OMIM:234200
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Congenital hepatic fibrosis, Respiratory insufficiency	ORPHA:93271
Smith-Lemli-Opitz Syndrome	Tracheal stenosis, Abnormality of the gallbladder, Abnormal dental enamel morphology, Congenital ...	ORPHA:818
Addison Disease	Hypoglycemia, Weight loss, Type I diabetes mellitus, Failure to thrive, Hashimoto thyroiditis	ORPHA:85138
African Trypanosomiasis	Hepatomegaly, Pericarditis, Keratitis, Myocarditis, Jaundice, Splenomegaly, Hepatosplenomegaly, W...	ORPHA:3385
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Weight loss, Sclerit...	ORPHA:91500
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Knobloch Syndrome 2	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Pyloric stenosis	OMIM:618458
Fanconi Anemia	Umbilical hernia, Abnormality of the liver, Tracheoesophageal fistula, Weight loss	ORPHA:84
Larsen Syndrome	Tracheal stenosis, Tracheomalacia	OMIM:150250
Multiple Myeloma	Splenomegaly, Pleural effusion, Weight loss	ORPHA:29073
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Respiratory paralysis, Obesity, Weight loss	ORPHA:79102
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Acute Adrenal Insufficiency	Failure to thrive, Hypoglycemia, Weight loss	ORPHA:95409
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Diabetes mellitus, Dorsocervical fat pad, Acne, Pancreatoblastoma, Imp...	ORPHA:99889
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Absence of subcutaneous fat, Insulin resistance, Upper airway obstruction, Weight...	ORPHA:740
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Weight loss, Hypocapnia, Failure to thrive, Neonatal hypoglycemia	ORPHA:90794
Goodpasture Syndrome	Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory def...	OMIM:233450
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Quebec Platelet Disorder	Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Hydrolethalus Syndrome 1	Tracheal stenosis, Omphalocele, Accessory spleen	OMIM:236680
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Multiple lipomas, Insulinoma, Weight loss	ORPHA:652
Fraser Syndrome	Tracheal stenosis, Umbilical hernia, Omphalocele	ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Flexion contracture, Recurrent otitis media, Camptodactyly, Tracheal stenosis, Failure ...	ORPHA:261537
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Mowat-Wilson Syndrome	Asplenia, Flexion contracture, Enterocolitis, Recurrent otitis media, Camptodactyly, Tracheal ste...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Flexion contracture, Recurrent otitis media, Camptodactyly, Tracheal stenosis, Failure ...	ORPHA:261552
Alzheimer Disease, Familial, 1	Dementia	OMIM:104300

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 Plau

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 Plau.

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

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MGI Allele	Allele Type	Produced
Plau^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Plau^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Plau^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Plau^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Plau^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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: Plau MGI:97611

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Adult LacZ

X-ray

X-ray

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Plau mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data