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Gene: Jup MGI:96650

Gene Summary

Name:

junction plakoglobin

Synonyms:

plakoglobin, Ctnng, D930025P04Rik, PG, gamma-catenin

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
edema	Jup^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Jup^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased hemoglobin content	Jup^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.58×10^-06
decreased circulating phosphate level	Jup^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.000100
abnormal embryo size	Jup^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
decreased fasting circulating glucose level	Jup^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.95×10^-13
decreased coping response	Jup^{tm1.1(KOMP)Vlcg}	HET	Early adult	2.54×10^-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
Adrenal gland	Section images	heterozygote	100% (2 of 2)
Aorta	Section images	heterozygote	100% (2 of 2)
Bone marrow	Section images	heterozygote	100% (2 of 2)
Brain	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Brown adipose tissue	Section images	heterozygote	100% (2 of 2)
Cartilage tissue	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Cerebral cortex	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Heart	Section images	heterozygote	100% (2 of 2)
Hippocampus	Section images	heterozygote	100% (2 of 2)
Hypothalamus	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Large intestine	Section images	heterozygote	100% (2 of 2)
Liver	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Lymph node	Section images	heterozygote	100% (2 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Peripheral nervous system	Section images	heterozygote	100% (2 of 2)
Peyer's patch	Section images	heterozygote	100% (2 of 2)
Pituitary gland	Section images	heterozygote	100% (2 of 2)
Skeletal muscle	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Small intestine	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Striatum	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thalamus	Section images	heterozygote	100% (2 of 2)
Thymus	Section images	heterozygote	100% (2 of 2)
Thyroid gland	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Vascular system	Section images	heterozygote	100% (2 of 2)
White adipose tissue	Section images	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	Not available

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

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	heterozygote	100% (1 of 1)
Brain	N/A	heterozygote	Ambiguous
Dorsal root ganglion	N/A	heterozygote	100% (1 of 1)
Ear	N/A	heterozygote	100% (1 of 1)
Eye	N/A	heterozygote	100% (1 of 1)
Footplate	N/A	heterozygote	100% (1 of 1)
Forebrain	N/A	heterozygote	Ambiguous
Forelimb	N/A	heterozygote	100% (1 of 1)
Fronto-nasal process	N/A	heterozygote	Ambiguous
Handplate	N/A	heterozygote	100% (1 of 1)
Head	N/A	heterozygote	100% (1 of 1)
Heart	N/A	heterozygote	100% (1 of 1)
Hindbrain	N/A	heterozygote	Ambiguous
Hindlimb	N/A	heterozygote	100% (1 of 1)
Liver	N/A	heterozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Mandibular process	N/A	heterozygote	100% (1 of 1)
Maxillary process	N/A	heterozygote	100% (1 of 1)
Midbrain	N/A	heterozygote	Ambiguous
Nose	N/A	heterozygote	100% (1 of 1)
Oral cavity	N/A	heterozygote	Ambiguous
Skin	N/A	heterozygote	100% (1 of 1)
Spinal cord	N/A	heterozygote	100% (1 of 1)
Tail somite	N/A	heterozygote	100% (1 of 1)
Tail	N/A	heterozygote	100% (1 of 1)

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 marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	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%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	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%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
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%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
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%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

Adult LacZ

LacZ Images Section

46 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

12 Images

View images

Eye Morphology

Images Ophthalmoscopy

2 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

X-ray

XRay Images Forepaw

12 Images

View images

Embryo LacZ

LacZ images wholemount

4 Images

View images

Sleep Wake

Wake state (bmp file)

1 Images

View images

Auditory Brain Stem Response

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

7 Images

View images

Electroretinography 2

Rod and cone PDF

3 Images

View images

Human diseases caused by Jup 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 Jup (4 diseases)
Human diseases predicted to be associated with Jup (1060 diseases)

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

Disease	Matching phenotypes	Source
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Diffuse palm...	OMIM:601214
Lethal Acantholytic Erosive Disorder	Acantholysis, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Hypovolemic shock,...	ORPHA:158687
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217

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

Disease	Matching phenotypes	Source
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Lipedema	Edema	OMIM:614103
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem...	ORPHA:64745
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Diffuse palm...	OMIM:601214
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Acantholysis, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, P...	OMIM:605676
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Redundant skin	OMIM:301021
Darier Disease	Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Plantar pits, Palmoplantar keratoderma, S...	ORPHA:218
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Annular cutaneous lesion,...	ORPHA:555905
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt...	ORPHA:79145
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Fibrinolytic Defect	Spontaneous hematomas, Hyperextensible skin	OMIM:134900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosi...	OMIM:616295
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula...	ORPHA:90064
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Acantholysis, Prurit...	ORPHA:293173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin	ORPHA:455
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity	ORPHA:735
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Lethal Acantholytic Erosive Disorder	Acantholysis, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Hypovolemic shock,...	ORPHA:158687
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis, Skin plaque	ORPHA:464318
Darier-White Disease	Acrokeratosis, Hypermelanotic macule, Acantholysis, Pruritus, Palmar pits, Plantar pits, Subungua...	OMIM:124200
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Cutis laxa	ORPHA:436274
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Dermatoleukodystrophy	Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyp...	ORPHA:79151
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Pruritus, Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, At...	ORPHA:79410
Warty Dyskeratoma	Abnormal bleeding, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localize...	ORPHA:69745
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Acantholysis, Multiple muscular ventricular s...	OMIM:615508
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Placental Insufficiency	Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, Ab...	ORPHA:439167
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle	ORPHA:158681
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin	OMIM:617571
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Skin vesicle	ORPHA:254478
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Acrokeratosis Verruciformis	Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hype...	OMIM:101900
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Heart block, Erythema, Periauricular skin pits, Abnorm...	ORPHA:79100
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa	ORPHA:91135
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Renal Hypodysplasia/Aplasia 2	Redundant skin	OMIM:615721
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Skin erosion, Aplasia cutis congenita, Acantholysis	OMIM:609638
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis	OMIM:146750
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Macule, Acute hepatic failure, Elevated hepatic transaminase, Sudden...	ORPHA:537
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Macule, Acute hepatic failure, Elevated hepatic transaminase, Sudden...	ORPHA:36426
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin	ORPHA:35664
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276556
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276575
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at...	ORPHA:49827
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Cutaneous photosensitivity, Dry skin	OMIM:617920
Peeling Skin Syndrome 3	Pruritus, Erythema, White scaling skin	OMIM:616265
Ehlers-Danlos Syndrome, Classic Type, 2	Hyperextensible skin, Soft, doughy skin, Bruising susceptibility, Fragile skin, Soft skin	OMIM:130010
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn...	ORPHA:563
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Growth delay, Generalized ...	OMIM:613561
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia	OMIM:255100
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:615598
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Pemphigoid Gestationis	Pruritus, Skin vesicle, Premature birth	ORPHA:63275
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio...	ORPHA:449285
Trimethylaminuria	Splenomegaly, Hypertension, Tachycardia	OMIM:602079
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal...	ORPHA:163596
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema	ORPHA:33314
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Dermatitis Herpetiformis	Macule, Eczema, Edema, Pruritus, Erythema, Skin vesicle	ORPHA:1656
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin, Cutis marmorata	OMIM:615937
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension	OMIM:121300
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule, Skin rash, Vasculitis in the skin	ORPHA:90000
Wells Syndrome	Pruritus, Skin vesicle, Vasculitis, Edema	ORPHA:901
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Redundant skin	ORPHA:1779
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Skin nodule, Dilated cardi...	ORPHA:3243
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Papule	OMIM:615696
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Cardiomegaly	OMIM:613576
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule	ORPHA:48104
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,...	ORPHA:335
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly...	OMIM:212138
Lymphatic Malformation 2	Lymphedema	OMIM:611944
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Card...	ORPHA:3386
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin	ORPHA:454
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho...	ORPHA:254534
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Hyperextensible skin	OMIM:619764
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Cirrhotic Cardiomyopathy	Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg...	ORPHA:57777
Porphyria Variegata	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Tachycardia, Localized sk...	ORPHA:79473
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Tendon thickening, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkerato...	ORPHA:530838
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Macular Dystrophy, Dominant Cystoid	Cystoid macular edema, Edema	OMIM:153880
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Generalized hyperkeratosis, Scaling skin, Cutis laxa	ORPHA:2269
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Cutis laxa	OMIM:301045
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling	OMIM:617950
Transaldolase Deficiency	Premature skin wrinkling, Telangiectasia	ORPHA:101028
Acrogeria	Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer	ORPHA:2500
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Parakeratosis, Superficial dermal...	ORPHA:284426
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin...	OMIM:614921
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Myopathy, Dermal atrophy, Skin vesicle, Papule	ORPHA:257
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Variegate Porphyria	Tachycardia	OMIM:176200
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Dry skin, Eczema, Cutis laxa	OMIM:612379
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Glycosuria	OMIM:618913
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo...	ORPHA:848
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Pallor	OMIM:500007
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Interphalangeal joint contracture of finger, Epidermal hyperkeratosis, Diff...	ORPHA:2199
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hennekam-Beemer Syndrome	Macule, Telangiectasia of the skin, Camptodactyly of finger, Pruritus, Subcutaneous nodule, Eryth...	ORPHA:2135
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ...	ORPHA:3099
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Huriez Syndrome	Dry skin, Lack of skin elasticity, Palmoplantar keratoderma	ORPHA:384
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia	OMIM:616026
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia, Pallor	ORPHA:90037
Restrictive Dermopathy	Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Camptodacty...	ORPHA:1662
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Amniotic constriction ring	OMIM:146590
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Periodontal Ehlers-Danlos Syndrome	Hyperextensible skin	ORPHA:75392
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Papule	ORPHA:2314
Evans Syndrome	Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae	ORPHA:1959
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Congenital Toxoplasmosis	Macule, Hepatomegaly, Elevated hepatic transaminase, Premature birth, Cardiomegaly, Jaundice, Asc...	ORPHA:858
Dyskeratosis Congenita	Macule, Hepatomegaly, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Telangiectasia of...	ORPHA:1775
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Glycosuria	OMIM:308990
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Cutis Laxa-Marfanoid Syndrome	Redundant skin	ORPHA:171719
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract...	OMIM:613870
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Pleural effusion, Pericardial effusion	ORPHA:48686
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Cutis laxa	OMIM:619691
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa	ORPHA:2963
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression, Skin erosion...	OMIM:247100
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
16P12.1P12.3 Triplication Syndrome	Tachycardia, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tric...	ORPHA:485405
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Wea...	OMIM:620265
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypophosphatemia, Fasting hy...	ORPHA:2088
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 54	Intrauterine growth retardation, Tachycardia, Lower limb muscle weakness	OMIM:619737
Ehlers-Danlos Syndrome, Periodontal Type, 2	Prominent superficial veins, Hyperextensible skin, Fragile skin, Bruising susceptibility	OMIM:617174
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Pallor	ORPHA:71518
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor	ORPHA:90033
Alg8-Cdg	Premature skin wrinkling, Abnormality of subcutaneous fat tissue, Cutis laxa	ORPHA:79325
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri...	OMIM:601419
Geroderma Osteodysplasticum	Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ...	OMIM:231070
Acral Peeling Skin Syndrome	Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ...	OMIM:616276
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Basan Syndrome	Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Flexion contracture of dig...	OMIM:129200
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Skin nodule, Epidermal acanthosis	ORPHA:199267
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Pallor	ORPHA:99931
Neonatal Lupus Erythematosus	Abnormal bleeding, Hepatomegaly, Parakeratosis, Prolonged QT interval, Maculopapular exanthema, S...	ORPHA:398124
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Vulvovaginal Gingival Syndrome	Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Skin erosion	ORPHA:83453
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol...	ORPHA:368
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Hyperextensible skin, Petechiae, Bruising susceptibility, Striae distensae	OMIM:225310
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa	OMIM:610842
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Palpitations	OMIM:188580
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hyperextensible skin, Progeroid facial appearance, Cutis laxa	ORPHA:75496
Chikungunya	Abnormal bleeding, Macule, Skin rash, Maculopapular exanthema, Epistaxis, Pruritus, Erythema nodo...	ORPHA:324625
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Glycosuria	OMIM:134600
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Cog7-Cdg	Excessive wrinkled skin, Jaundice	ORPHA:79333
Ichthyosis Prematurity Syndrome	Premature birth, Epidermal acanthosis, Polyhydramnios, Pruritus, Caseous vernix-like desquamation...	OMIM:608649
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Proteus Syndrome	Epidermal nevus, Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Nevus	OMIM:176920
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
6P22 Microdeletion Syndrome	Redundant skin	ORPHA:251046
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu...	ORPHA:3426
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ...	ORPHA:97214
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,...	OMIM:227810
Cutis Laxa, Autosomal Recessive, Type Iie	Cutis laxa	OMIM:619451
Infantile Sialic Acid Storage Disease	Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops feta...	OMIM:269920
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma...	ORPHA:555874
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure, Splenomegaly,...	ORPHA:231226
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Generalized amyotrophy...	OMIM:602668
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Autoimmune Hypoparathyroidism	Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz...	ORPHA:36913
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cystinosis	Type I diabetes mellitus, Hypokalemia, Hypophosphatemia	ORPHA:213
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Acrokeratoelastoidosis Of Costa	Yellow papule, Epidermal acanthosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin ...	ORPHA:38
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor	OMIM:615631
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Hyperextensible skin, Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Cardiac Valvular Dysplasia, X-Linked	Cutis laxa	OMIM:314400
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Redundant skin	ORPHA:1807
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Optic Atrophy 1	Pallor	OMIM:165500
White Sponge Nevus 2	Edema	OMIM:615785
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric...	OMIM:253250
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression	OMIM:600740
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin...	OMIM:613327
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology	ORPHA:79264
Rafiq Syndrome	Cutis laxa	OMIM:614202
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit...	OMIM:259100
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Myoclonic-Astatic Epilepsy	Premature skin wrinkling	ORPHA:1942
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Epidermal acanthosis, Portal hypertension, Pruritus, Splenomegaly, J...	OMIM:607626
Silver-Russell Syndrome Due To A Point Mutation	Cafe-au-lait spot, Small placenta, Oligohydramnios	ORPHA:397590
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund...	ORPHA:231222
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Skin rash, Acantholysis, Xer...	ORPHA:95455
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos...	OMIM:619208
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio...	OMIM:614702
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema	ORPHA:70587
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Capillary leak, Reduced left ventricular...	ORPHA:542323
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio...	OMIM:608013
Menkes Disease	Death in childhood, Cutis laxa	OMIM:309400
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Lymphedema, Splenomegaly, Intracranial hemorrhage, Pallor,...	ORPHA:3226
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Hypotension	OMIM:145600
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall...	ORPHA:263455
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Andersen-Tawil Syndrome	Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t...	ORPHA:37553
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure,...	ORPHA:231214
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallor, Restrictive cardiomyopath...	ORPHA:822
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor	ORPHA:75563
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Cafe-au-lait spot, Small placenta	ORPHA:73272
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Growth...	OMIM:614653
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Digital constriction ring, Honeyc...	ORPHA:79395
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Pallor	OMIM:606353
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Glycosuria	OMIM:613388
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Hereditary Coproporphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia, He...	ORPHA:79273
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelith...	OMIM:266200
Vitamin D-Dependent Rickets, Type 2A	Irritability, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Weaver Syndrome	Redundant skin	ORPHA:3447
Craniofaciofrontodigital Syndrome	Palmoplantar cutis laxa, Premature skin wrinkling, Prominent superficial veins, Cutis laxa	ORPHA:363705
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Palpebral edema, Lower limb hypertonia, Skin vesicle, Umbilical hernia	ORPHA:99843
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Ventricular septa...	OMIM:618280
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Bradycardia, Hypoten...	ORPHA:90051
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma, Splenomegaly...	OMIM:235200
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Cutaneous Mastocytoma	Macule, Maculopapular exanthema, Telangiectasia of the skin, Hypermelanotic macule, Pruritus, Hyp...	ORPHA:79455
Hydroxykynureninuria	Tachycardia, Dry skin, Hypotension	ORPHA:79155
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Hyperextensible skin, Cutis laxa	OMIM:219150
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopa...	ORPHA:159
Bathing Suit Ichthyosis	Parakeratosis, Multiple joint contractures, Epidermal acanthosis, Palmoplantar hyperkeratosis, Pa...	ORPHA:100976
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Subcutan...	ORPHA:79280
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Eczema	ORPHA:3051
Cutis Laxa, Autosomal Recessive, Type Iia	Excessive wrinkled skin, Redundant skin, Cutis laxa	OMIM:219200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,...	OMIM:256550
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Hyperextensible skin, Bruising susceptibility, Poor wound healing, Dermal translucency	OMIM:619120
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98855
Relapsing Fever	Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Epistaxis, Jaundice, Prolonged pro...	ORPHA:91547
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Generalized hy...	ORPHA:349
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo...	ORPHA:99827
Pseudoxanthoma Elasticum	Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle...	ORPHA:758
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, E...	ORPHA:824
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Post-partum hemorrhage, Melena, Oral cavity bleedin...	ORPHA:98870
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt...	OMIM:612281
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Decreased fetal movement, Premature birth, Elbow contract...	OMIM:208150
Rahman Syndrome	Redundant skin	OMIM:617537
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Epidermal acanthosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin	ORPHA:90368
Stiff-Person Syndrome	Tachycardia, Proximal limb muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Axia...	OMIM:184850
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Redundant neck skin	OMIM:619003
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br...	OMIM:612940
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Hepatomegaly, Congestive heart failure, Splenomegaly, Pallor	ORPHA:75564
Macs Syndrome	Redundant skin, Cutis laxa, Hyperextensible skin, Soft skin, Bruising susceptibility	OMIM:613075
Man1B1-Cdg	Cutis laxa	ORPHA:397941
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98853
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Short stature, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, Desquamati...	OMIM:242300
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin	ORPHA:166113
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Hereditary Fructose Intolerance	Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia	ORPHA:469
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Redundant neck skin	OMIM:610498
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Abno...	OMIM:222470
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit...	OMIM:604777
Graft Versus Host Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contract...	ORPHA:39812
X-Linked Ehlers-Danlos Syndrome	Hyperextensible skin, Bruising susceptibility	ORPHA:75497
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei...	ORPHA:357074
Agel Amyloidosis	Pruritus, Cutis laxa, Dry skin, Dermatological manifestations of systemic disorders, Bruising sus...	ORPHA:85448
Short Syndrome	Premature skin wrinkling, Prominent superficial veins	OMIM:269880
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Gingival hyperkeratosis, Hyperextensible skin, Soft, doughy skin, Bruising suscep...	OMIM:225410
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Erythroderma, Dry skin	ORPHA:313
Scorpion Envenomation	Bundle branch block, Tachycardia, Pulmonary edema, Acute pancreatitis, Elevated circulating aspar...	ORPHA:466677
Breath-Holding Spells	Pallor	OMIM:607578
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Dry skin, Prematurely aged appearance	ORPHA:2617
Cole Disease	Hypopigmented macule, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis,...	OMIM:615522
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Skin ulcer, Pallor	ORPHA:507
Cutis Laxa, Autosomal Recessive, Type Iiib	Excessive wrinkled skin, Prominent superficial veins, Cutis laxa, Dermal translucency	OMIM:614438
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc...	OMIM:618652
Neu-Laxova Syndrome 1	Decreased fetal movement, Hydranencephaly, Ventricular septal defect, Polyhydramnios, Fetal akine...	OMIM:256520
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Hyp...	OMIM:618000
Arterial Tortuosity Syndrome	Soft, doughy skin, Progeroid facial appearance, Cutis laxa, Hyperextensible skin, Soft skin, Brui...	OMIM:208050
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure...	ORPHA:33226
Rin2 Syndrome	Hyperextensible skin, Redundant skin, Bruising susceptibility	ORPHA:217335
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98863
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular ...	OMIM:616878
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Immunodeficiency 49	Psoriasiform dermatitis, Cutis laxa	OMIM:617237
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis	ORPHA:348
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Bacterial Toxic-Shock Syndrome	Shock, Myositis, Tachycardia, Edema, Myocarditis, Peritonitis, Hepatitis, Capillary leak, Scaling...	ORPHA:36234
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Decreased fetal movement, Limb joint contracture, Prematur...	OMIM:275210
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Erythema, Left ventricular hypertrophy, Cerebral edema	OMIM:618321
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Soft, doughy skin, Hyperextensible skin, Bruising susceptibility, Poor wound healing	OMIM:130060
Tularemia	Pleural effusion, Tachycardia	ORPHA:3392
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in...	OMIM:614654
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Jaundice,...	ORPHA:20
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal...	OMIM:608776
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Soft skin, Hyperextensible skin, Cutis laxa, Dermal translucency	OMIM:615349
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper...	OMIM:300918
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Blepharonasofacial Malformation Syndrome	Redundant skin	ORPHA:1252
Cantu Syndrome	Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ...	OMIM:239850
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Decreased circulating carnitine con...	ORPHA:3337
Congenital Enterovirus Infection	Abnormal bleeding, Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Peri...	ORPHA:292
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural...	ORPHA:330001
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Growth delay, Pallor...	OMIM:600462
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Increased number of...	ORPHA:90348
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration	OMIM:615234
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar...	OMIM:609053
Ichthyosis, Annular Epidermolytic, 1	Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous plaque, Scaling skin, Ort...	OMIM:607602
Cranioectodermal Dysplasia 4	Cutis laxa	OMIM:614378
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:607936
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Polyhydramnios, Pustule, Dehydration, Hypertension, Papule	OMIM:616069
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Sk...	OMIM:620148
Geroderma Osteodysplastica	Hyperextensible skin, Prematurely aged appearance, Redundant skin	ORPHA:2078
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Hypophosphatemia,...	ORPHA:699
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo...	ORPHA:411634
Cog5-Cdg	Premature skin wrinkling	ORPHA:263487
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
High Altitude Pulmonary Edema	Tachycardia, Pulmonary edema	ORPHA:330012
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat...	OMIM:617713
Thanatophoric Dysplasia	Redundant skin	ORPHA:2655
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis...	ORPHA:42
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure	ORPHA:43116
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke...	OMIM:148700
Dent Disease 1	Hypophosphatemia, Glycosuria	OMIM:300009
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma	OMIM:615022
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Chole...	ORPHA:521219
Cutis Laxa, Autosomal Recessive, Type Ia	Redundant skin, Cutis laxa	OMIM:219100
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Thanatophoric Dysplasia Type 2	Redundant skin	ORPHA:93274
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Raynau...	ORPHA:3260
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole...	OMIM:618775
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Anauxetic Dysplasia 3	Cutis laxa	OMIM:618853
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia	OMIM:229700
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema	OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis	OMIM:613943
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short stature, Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of t...	OMIM:617877
Mosaic Trisomy 16	Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he...	ORPHA:1708
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Costello Syndrome	Hyperkeratosis, Redundant skin, Lack of skin elasticity	ORPHA:3071
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Progeroid facial appearance	ORPHA:50811
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular...	OMIM:201475
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Skin rash, Epidermal acanthosis, Pustule, Splenomegaly, Hyperkeratosis, Joint swell...	OMIM:612852
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Hyperextensible skin, Progeroid facial appearance	ORPHA:357058
Hemorrhagic Fever-Renal Syndrome	Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intrac...	ORPHA:340
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea...	ORPHA:505248
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Soft skin, Hyperextensible skin, Bruising susceptibility	OMIM:225320
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Singleton-Merten Syndrome 2	Psoriasiform lesion, Aortic valve calcification, Hyperkeratosis, Arrhythmia, Aortic valve stenosis	OMIM:616298
Ogden Syndrome	Cutis laxa	ORPHA:276432
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Hypopigmented skin patches,...	ORPHA:330064
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Ataxia-Telangiectasia	Premature graying of hair, Telangiectasia of the skin, Prematurely aged appearance, Mucosal telan...	ORPHA:100
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Infantile Nephropathic Cystinosis	Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Glycosuria	ORPHA:411629
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ...	OMIM:300855
Pseudohypoparathyroidism Type 1B	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94089
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Rh Deficiency Syndrome	Tachycardia, Jaundice, Hepatosplenomegaly, Intrauterine growth retardation, Oligohydramnios	ORPHA:71275
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites	ORPHA:139411
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly	ORPHA:3137
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Hypotension	ORPHA:98849
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Noonan Syndrome 8	Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin, Eczema	OMIM:615355
Macular Degeneration, Age-Related, 3	Hyperextensible skin	OMIM:608895
Macrocephaly/Autism Syndrome	Cutis laxa	OMIM:605309
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Macrog...	ORPHA:254528
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Derma...	ORPHA:2962
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Flexion contracture, Xerostomia, Intermittent generalized erythema...	ORPHA:99921
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor, Hepatosplenomegaly	OMIM:611590
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance	OMIM:227260
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cutis laxa, Hyperextensible skin, Follicular hyperkeratosis, Soft skin, Bruising susceptibility	OMIM:614557
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Hyperextensible skin, Bruising susceptibility, Poor wound healing, Dermal translucency	OMIM:619115
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Epidermal acanthosis, Splenomegaly, Palmoplantar hyperkeratosis, Follicular hyperke...	OMIM:617388
Thanatophoric Dysplasia Type 1	Excessive wrinkled skin, Redundant skin	ORPHA:1860
Porphyria, Acute Intermittent	Hypertension, Tachycardia, Hepatocellular carcinoma	OMIM:176000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pallor	OMIM:613839
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Palmoplantar cutis laxa, Redundant skin, Neonatal death	OMIM:616482
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat...	ORPHA:465508
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma	OMIM:615023
Stuve-Wiedemann Syndrome 1	Death in infancy, Premature skin wrinkling	OMIM:601559
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Pallor	ORPHA:35858
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Cutis laxa	OMIM:270420
Arthrogryposis Multiplex Congenita 5	Death in infancy, Premature skin wrinkling	OMIM:618947
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Gaucher Disease Type 1	Hepatomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Pulmonary arterial ...	ORPHA:77259
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Edema, Portal hype...	OMIM:619487
Refractory Anemia With Excess Blasts	Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations	ORPHA:86839
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype...	ORPHA:79102
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Pallor	ORPHA:56425
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Cutis laxa	OMIM:614800
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Beckwith-Wiedemann Syndrome	Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Subchorionic septa...	ORPHA:116
Beta-Ketothiolase Deficiency	Hepatomegaly, Edema, Dehydration, Hypertension, Pallor, Hypotension	ORPHA:134
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Premature skin wrinkling, Eczema, Periorbital wrinkles	OMIM:601358
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Pericarditis, Tachycardia, Elevated hepatic transaminase, Excessive ble...	ORPHA:99826
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Ehlers-Danlos Syndrome, Classic-Like	Poor wound healing, Hyperextensible skin, Soft skin, Bruising susceptibility, Striae distensae	OMIM:606408
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype...	ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Progeroid facial appearance, Cutis laxa, Death in childhood	OMIM:613177
Scarf Syndrome	Cutis laxa	ORPHA:3134
Werner Syndrome	Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Lack of skin elasticity, Sk...	ORPHA:902
Myelofibrosis	Splenomegaly, Pallor, Purpura	OMIM:254450
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:148600
Fibrous Dysplasia Of Bone	Diabetes mellitus, Hypercalcemia, Hypophosphatemia	ORPHA:249
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Fg Syndrome Type 1	Facial wrinkling	ORPHA:93932
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Epidermal nevus, Epidermal acanthosis, Flexion contracture, Erythema, Hyperkeratos...	OMIM:308050
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Acquired Partial Lipodystrophy	Progeroid facial appearance	ORPHA:79087
Cardiofaciocutaneous Syndrome	Redundant skin, Hyperkeratosis, Excessive wrinkled skin, Hyperextensible skin, Palmoplantar kerat...	ORPHA:1340
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Reduced blood urea nitrogen, Hypop...	OMIM:219800
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a...	OMIM:612289
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Distal amyotrophy, Pallor, Increased variability in muscle fiber dia...	OMIM:617675
Autosomal Dominant Hypocalcemia	Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability	ORPHA:428
Axenfeld-Rieger Syndrome	Redundant skin	ORPHA:782
Calciphylaxis	Cutis marmorata, Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Yellow papule, Congestive heart failure, Retinal he...	OMIM:264800
Cholera	Tachycardia, Dehydration, Hypovolemic shock, Hypotension, Palmoplantar cutis laxa	ORPHA:173
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Cranioectodermal Dysplasia 3	Ectodermal dysplasia, Dry skin, Cutis laxa	OMIM:614099
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Anemic pallor, Edema, Growth delay, Hematochezia	ORPHA:329971
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Acute Radiation Syndrome	Abnormal bleeding, Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratos...	ORPHA:454831
Opsismodysplasia	Hypophosphatemia	OMIM:258480
X-Linked Creatine Transporter Deficiency	Redundant skin	ORPHA:52503
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Skin rash, Pericardial effusion, Pruritus, Splenom...	ORPHA:36412
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Redundant skin, Hyperextensible skin, Bruising susceptibility, Subcuta...	ORPHA:2953
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness	OMIM:266500
Familial Dysautonomia	Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Growth delay, Hypertension	ORPHA:1764
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T...	ORPHA:2131
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Trichorhinophalangeal Syndrome Type 2	Redundant skin	ORPHA:502
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Premature skin wrinkling	ORPHA:363618
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis	OMIM:194380
Dravet Syndrome	Pallor	ORPHA:33069
Bohring-Opitz Syndrome	Cutis laxa	OMIM:605039
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hyperextensible skin, Bruising susceptibility	ORPHA:157965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Facial palsy, Limb muscle weakness, Left bundle branch block, Abno...	OMIM:610131
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin	OMIM:618527
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
C Syndrome	Cutis laxa	OMIM:211750
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor	OMIM:246450
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se...	ORPHA:79330
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Thrombocytopenia, Depression, Hypokalemia, Hypophosphatemia, Hyperch...	ORPHA:534
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance	ORPHA:1387
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Acute Intermittent Porphyria	Proximal muscle weakness in upper limbs, Tachycardia, Proximal muscle weakness in lower limbs, Hy...	ORPHA:79276
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Prematurely aged appearance, Dry skin, Urticaria, Cutaneous photosensitivity	ORPHA:220295
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Gitelman Syndrome	Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Growth delay, Palpitations, Hypot...	OMIM:263800
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Epidermal acanthosis, Abnormal epidermal morphology, Verrucous papule,...	ORPHA:79501
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Excessive wrinkled skin	ORPHA:3322
Ehlers-Danlos Syndrome, Periodontal Type, 1	Prominent superficial veins, Poor wound healing, Hyperextensible skin, Palmoplantar cutis laxa, S...	OMIM:130080
Dermatosparaxis Ehlers-Danlos Syndrome	Excessive wrinkled skin, Hyperextensible skin, Abnormality of subcutaneous fat tissue	ORPHA:1901
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Growth delay, Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakne...	ORPHA:254892
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Hydrocephalus, Congenital, 3, With Brain Anomalies	Redundant neck skin	OMIM:617967
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hyperextensible skin, Cutis laxa	OMIM:245600
Barber-Say Syndrome	Hyperextensible skin, Redundant skin	ORPHA:1231
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ...	OMIM:617022
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Excessive wrinkled skin, Hyperextensible skin, Follicular hyperkeratosis, Pal...	OMIM:225400
Arthrochalasia Ehlers-Danlos Syndrome	Hyperextensible skin, Abnormality of subcutaneous fat tissue	ORPHA:1899
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Corneal...	OMIM:615225
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Stillbirth, Redundant neck skin	OMIM:236500
Scarf Syndrome	Cutis laxa	OMIM:312830
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Plague	Abnormal bleeding, Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, Ski...	ORPHA:707
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Coffin-Lowry Syndrome	Death in early adulthood, Redundant skin	ORPHA:192
Pseudo-Torch Syndrome 3	Hypertension, Premature birth, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Keppen-Lubinsky Syndrome	Premature skin wrinkling, Progeroid facial appearance	ORPHA:435628
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Camptodactyly of finger, Malformation of the hepatic d...	OMIM:249000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co...	ORPHA:300298
Raine Syndrome	Hypophosphatemia	OMIM:259775
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Fumarase Deficiency	Polyhydramnios, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Pallor, Hepat...	OMIM:606812
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Kagami-Ogata Syndrome	Premature birth, Diastasis recti, Polyhydramnios, Large placenta, Hepatoblastoma	ORPHA:254519
Greenberg Dysplasia	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I...	OMIM:215140
Immunodeficiency 47	Death in infancy, Prolonged neonatal jaundice, Cutis laxa	OMIM:300972
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:616029
Pseudohypoparathyroidism Type 1C	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:79444
Elliptocytosis 1	Splenomegaly, Jaundice, Pallor	OMIM:611804
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Weaver Syndrome	Cutis laxa	OMIM:277590
Specific Granule Deficiency 2	Death in infancy, Hyperextensible skin, Death in childhood	OMIM:617475
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Soft, doughy skin, Cutis laxa, Hyperextensible skin, Soft skin	ORPHA:536471
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Premature skin wrinkling, Malar rash, Cutaneous photosensiti...	ORPHA:191
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Sheehan Syndrome	Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 5	Death in infancy, Redundant neck skin	OMIM:611719
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria	ORPHA:1652
Degcags Syndrome	Hepatomegaly, Tachycardia, Ventricular septal defect, Polyhydramnios, Cholestasis, Hepatosplenome...	OMIM:619488
Ichthyosis, Congenital, Autosomal Recessive 2	Hyperkeratosis, Erythema, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:242100
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Soft skin, Hyperextensible skin, Fragile skin, Bruising susceptibility	OMIM:617821
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin	OMIM:200110
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal epidermal morphology, Nevus	ORPHA:398189
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f...	OMIM:602782
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Small the...	OMIM:105650
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Hyperextensible skin, Prematurely aged appearance, Redundant skin	ORPHA:3342
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Palmoplantar keratoderma, Reduced subcutaneous adipose tissue, Lack of...	ORPHA:1979
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture o...	ORPHA:96334
Laron Syndrome	Prematurely aged appearance	ORPHA:633
Necrotizing Enterocolitis	Shock, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Ascites	ORPHA:391673
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Opitz-Kaveggia Syndrome	Facial wrinkling	OMIM:305450
Short Syndrome	Excessive wrinkled skin	ORPHA:3163
Familial Aortic Dissection	Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Congenital Disorder Of Glycosylation, Type Iie	Excessive wrinkled skin, Jaundice, Death in infancy	OMIM:608779
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g...	OMIM:619259
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Dehy...	OMIM:557000
Letterer-Siwe Disease	Jaundice, Pallor, Hepatosplenomegaly	OMIM:246400
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe...	ORPHA:199241
Ehlers-Danlos Syndrome, Classic Type, 1	Poor wound healing, Hyperextensible skin, Soft skin, Bruising susceptibility, Fragile skin	OMIM:130000
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Classic Phenylketonuria	Eczema, Lack of skin elasticity	ORPHA:79254
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Classical-Like Ehlers-Danlos Syndrome Type 1	Hyperextensible skin, Bruising susceptibility	ORPHA:230839
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia	ORPHA:71273
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Fetal akinesia sequence, Preauricular sk...	OMIM:618143
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Progeroid facial appearance	OMIM:608154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly	ORPHA:331206
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Mac...	ORPHA:96191
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Xfe Progeroid Syndrome	Cutaneous photosensitivity, Dry skin, Prematurely aged appearance, Death in adolescence	OMIM:610965
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial ef...	ORPHA:464329
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Autosomal Recessive Cutis Laxa Type 1	Redundant skin, Cutis laxa, Lack of skin elasticity	ORPHA:90349
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Classical-Like Ehlers-Danlos Syndrome Type 2	Bruising susceptibility, Hyperextensible skin, Redundant skin, Prominent veins on trunk	ORPHA:536532
B4Galt1-Cdg	Inflammatory abnormality of the skin, Redundant neck skin	ORPHA:79332
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pallor	ORPHA:90045
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ...	OMIM:606721
Pituitary Apoplexy	Hypertension, Pallor, Hypotension	ORPHA:95613
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Pseudohypoparathyroidism Type 1A	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:79443
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Infection-Related Hemolytic Uremic Syndrome	Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Pancreatitis, Hypertensive crisis, Gen...	ORPHA:544482
Recon Progeroid Syndrome	Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity	OMIM:620370
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Prematurely aged appearance, Prematur...	OMIM:264090
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Abnormal myocardi...	ORPHA:228308
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Redundant skin, Cutis laxa	OMIM:617403
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Prominent superficial veins, Hyperextensible skin, Bruising susceptibility	OMIM:612350
Lysinuric Protein Intolerance	Hyperextensible skin, Cutis laxa	OMIM:222700
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Cutis marmorata, Cutis laxa	OMIM:151050
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert...	ORPHA:1517
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice	OMIM:300908
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Dry skin, Macroglossia, Bruising s...	OMIM:230000
Prolactinoma	Pallor, Hypotension, Delayed puberty	ORPHA:2965
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc...	OMIM:619991
Non-Functioning Pituitary Adenoma	Pallor, Hypotension	ORPHA:91349
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Mandibuloacral Dysplasia With Type A Lipodystrophy	Prematurely aged appearance, Lack of skin elasticity, Progeroid facial appearance	ORPHA:90153
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis	OMIM:603903
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Lack of skin elasticity, Premature skin wrinkling,...	ORPHA:740
Multiple Endocrine Neoplasia Type 2	Proximal amyotrophy, Neoplasm of the liver, Palpitations, Pallor, Hypertensive crisis, Hypertensi...	ORPHA:653
Antisynthetase Syndrome	Pruritus, Telangiectasia of the skin, Skin rash, Lack of skin elasticity	ORPHA:81
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology	OMIM:600901
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Abetalipoproteinemia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Congestive heart fa...	ORPHA:14
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia	ORPHA:93325
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent skin infections, Increased ...	ORPHA:3455
Cutis Laxa, Autosomal Recessive, Type Ib	Soft skin, Cutis laxa, Dermal translucency	OMIM:614437
Fanconi Anemia, Complementation Group C	Short stature, Ventricular septal defect, Anemic pallor, Flexion contracture, Intrauterine growth...	OMIM:227645
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Follicular h...	OMIM:257980
Recombinant 8 Syndrome	Redundant skin	ORPHA:96167
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology	OMIM:227650
Alg12-Cdg	Redundant skin	ORPHA:79324
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Incontinentia Pigmenti	Pallor, Erythema, Short stature, Retinal hemorrhage	OMIM:308300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal a...	ORPHA:83617
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Trichothiodystrophy 5, Nonphotosensitive	Cutaneous photosensitivity, Cutis marmorata, Progeroid facial appearance	OMIM:300953
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Aregenerative Anemia	Abnormal bleeding, Bruising susceptibility, Pallor	ORPHA:101096
Tay-Sachs Disease	Pallor	OMIM:272800
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Short stature, Delayed puberty, Muscle...	ORPHA:1772
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Werner Syndrome	Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification	OMIM:277700
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:224900
Occipital Horn Syndrome	Soft skin, Hyperextensible skin, Redundant skin, Bruising susceptibility	OMIM:304150
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Dry skin, Redundant skin	ORPHA:920
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Hyperextensible skin	ORPHA:500
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Wrinkly Skin Syndrome	Palmoplantar cutis laxa, Neonatal wrinkled skin of hands and feet, Redundant skin, Progeroid faci...	OMIM:278250
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopat...	OMIM:130650
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ...	ORPHA:365
Gapo Syndrome	Hyperextensible skin, Prematurely aged appearance	ORPHA:2067
Gapo Syndrome	Prominent scalp veins, Redundant skin	OMIM:230740
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cutis laxa	OMIM:266920
Congenital Tracheomalacia	Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma...	ORPHA:95430
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly,...	OMIM:252500
Cranioectodermal Dysplasia 2	Ectodermal dysplasia, Cutis laxa	OMIM:613610
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnormal heart morphology, G...	ORPHA:124
Scleromyxedema	Pruritus, Generalized abnormality of skin, Aged leonine appearance	ORPHA:167635
Neonatal Marfan Syndrome	Cutis laxa	ORPHA:284979
Scalp-Ear-Nipple Syndrome	Palpebral edema, Short stature, Cardiac myxoma, Congestive heart failure, Hypertension, Supravent...	OMIM:181270
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Naevus flammeus of the eyeli...	ORPHA:97297
Campomelia, Cumming Type	Death in infancy, Prematurely aged appearance	ORPHA:1318
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Growth delay, Pallor, Tetralogy of Fallot	ORPHA:1199
Progeria-Short Stature-Pigmented Nevi Syndrome	Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial appearance	ORPHA:2959
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS comple...	ORPHA:273
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Depression, Abnormal T ...	ORPHA:330015
Fountain Syndrome	Erythema, Hyperextensible skin, Cutis marmorata	ORPHA:3219
Cardiofaciocutaneous Syndrome 4	Hyperextensible skin, Palmoplantar hyperkeratosis	OMIM:615280
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:181600
Wrinkly Skin Syndrome	Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins...	ORPHA:2834
Bone Dysplasia, Lethal Holmgren Type	Redundant neck skin	ORPHA:1842
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Junc...	OMIM:309801
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Prominent superficial veins, Cutis laxa	OMIM:617402
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Erythema, Atopic dermatitis, Cutis laxa, Facial erythema, Ur...	OMIM:619503
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Fanconi Anemia, Complementation Group D2	Anemic pallor, Short stature, Abnormal heart morphology, Annular pancreas, Bruising susceptibility	OMIM:227646
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu...	ORPHA:2463
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Ectodermal dysplasia, Dry skin, Periorbital wrinkles	OMIM:614941
Aarskog-Scott Syndrome	Hyperextensible skin	ORPHA:915
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t...	OMIM:615919
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog...	OMIM:608612
Trichothiodystrophy	Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Dry skin, Cutaneous pho...	ORPHA:33364
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance	OMIM:617763
Diastrophic Dysplasia	Hyperextensible skin	ORPHA:628
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Cardiomegaly, R...	ORPHA:51
Lenz-Majewski Hyperostotic Dwarfism	Prematurely aged appearance, Redundant skin	ORPHA:2658
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Prominent superficial veins, Prematurely aged appearance, Palmoplantar hyperkerat...	OMIM:601812
Sarcoidosis	Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo...	ORPHA:797
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Hyperextensible skin, Prematurely a...	OMIM:619950
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Ca...	OMIM:256040
Acrofrontofacionasal Dysostosis 2	Redundant neck skin	OMIM:239710
Osteogenesis Imperfecta	Bruising susceptibility, Cutis laxa	ORPHA:666
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Soft, doughy skin, Hyperextensible skin, Dermal translucency	ORPHA:541423
Acromesomelic Dysplasia 1	Redundant skin on fingers	OMIM:602875
Pelviscapular Dysplasia	Redundant neck skin	ORPHA:93333
Spondylo-Ocular Syndrome	Hyperextensible skin	ORPHA:85194
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata, Cutis laxa	OMIM:303600
Cardiac-Valvular Ehlers-Danlos Syndrome	Soft, doughy skin, Hyperextensible skin, Bruising susceptibility, Poor wound healing	ORPHA:230851
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Progeroid facial appearance	ORPHA:412057
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple...	OMIM:618278
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance	ORPHA:90154
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po...	ORPHA:51608
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Down Syndrome	Prematurely aged appearance	ORPHA:870
Kosaki Overgrowth Syndrome	Hyperextensible skin, Fragile skin	OMIM:616592
Trichorhinophalangeal Syndrome, Type Ii	Redundant skin in infancy, Dry skin, Cutis laxa	OMIM:150230
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia, Depression	ORPHA:847
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Eczema, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Soft skin, Dry skin	OMIM:305100
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr...	OMIM:133540
Spinocerebellar Ataxia-Dysmorphism Syndrome	Hyperextensible skin	ORPHA:1185
Loeys-Dietz Syndrome 4	Hyperextensible skin, Bruising susceptibility, Striae distensae	OMIM:614816
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Viss Syndrome	Prominent superficial blood vessels, Eczema, Atopic dermatitis, Cutis laxa, Hyperextensible skin,...	OMIM:619472
Carpenter Syndrome 2	Cutis laxa	OMIM:614976
Noonan Syndrome 10	Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin	OMIM:616564
Fibromuscular Dysplasia, Multifocal	Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency	OMIM:619329
Cockayne Syndrome Type 2	Progeroid facial appearance	ORPHA:90322
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin	OMIM:301056
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Hyperextensible skin, S...	ORPHA:287
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance	OMIM:300578
Atypical Werner Syndrome	Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f...	ORPHA:79474
Tetrasomy 5P	Redundant neck skin, Cyanosis	ORPHA:3309
Emanuel Syndrome	Redundant neck skin	ORPHA:96170
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Redundant neck skin	OMIM:235255
Noonan Syndrome 2	Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin	OMIM:605275
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin	OMIM:617360
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance	OMIM:616914
Saul-Wilson Syndrome	Prominent superficial veins, Progeroid facial appearance	OMIM:618150
C Syndrome	Death in infancy, Redundant skin	ORPHA:1308
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr...	OMIM:216400
Williams-Beuren Syndrome	Soft skin, Premature graying of hair, Cutis laxa	OMIM:194050
Zaki Syndrome	Hyperextensible skin	OMIM:619648
Brittle Cornea Syndrome	Soft skin, Hyperextensible skin, Bruising susceptibility	ORPHA:90354
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr...	ORPHA:3472
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Hyperextensible skin, Fragile skin, Bruising susceptibility, Poor wound healing	ORPHA:1900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin	ORPHA:2519
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Progeroid facial appearance	OMIM:610651
Williams Syndrome	Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Periorbital edema, At...	ORPHA:904
Spondylometaphyseal Dysplasia, Sedaghatian Type	Redundant skin	OMIM:250220
Kleefstra Syndrome Due To A Point Mutation	Hyperextensible skin	ORPHA:261652
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Dry skin, Progeroid facial appearance	OMIM:614008
Peroxisome Biogenesis Disorder 1A (Zellweger)	Prolonged neonatal jaundice, Redundant neck skin, Death in childhood	OMIM:214100
Marshall-Smith Syndrome	Ventricular septal defect, Short stature, Premature ventricular contraction, Hypertension, Umbili...	OMIM:602535
Chromosome 18P Deletion Syndrome	Redundant neck skin	OMIM:146390
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Hyperextensible skin, Follicular hyperkeratosis, Soft, doughy skin, Bruising ...	ORPHA:536545
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Seckel Syndrome	Prematurely aged appearance	ORPHA:808
Cockayne Syndrome Type 1	Cutaneous photosensitivity, Progeroid facial appearance	ORPHA:90321
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Redundant neck skin	OMIM:123790
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Redundant neck skin	OMIM:217980
Legius Syndrome	Paroxysmal atrial tachycardia, Short stature, Pulmonic stenosis, Mitral valve prolapse	ORPHA:137605
Multiple Benign Circumferential Skin Creases On Limbs	Increased number of skin folds	ORPHA:2505
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, Hyperextensible skin, Eczema	OMIM:607721
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Soft, doughy skin, Hyperextensible skin, Bruising susceptibility, Dermal translucency	ORPHA:536467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Muscular dystrophy	OMIM:253280
Papillorenal Syndrome	Soft skin, Hyperextensible skin	OMIM:120330
Vascular Ehlers-Danlos Syndrome	Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Excessive wrinkled skin,...	ORPHA:286
Shprintzen-Goldberg Craniosynostosis Syndrome	Hyperextensible skin, Minimal subcutaneous fat	OMIM:182212
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Redundant neck skin	OMIM:604314
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Hyperextensible skin	ORPHA:555877
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin	ORPHA:1655
Goodpasture Syndrome	Pallor, Pulmonary hemorrhage	OMIM:233450
Cerebrotendinous Xanthomatosis	Prematurely aged appearance, Prolonged neonatal jaundice	ORPHA:909
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Redundant neck skin	ORPHA:397715
Menkes Disease	Spontaneous hematomas, Hyperextensible skin, Dry skin, Prolonged neonatal jaundice	ORPHA:565
Acquired Generalized Lipodystrophy	Progeroid facial appearance	ORPHA:79086
Frank-Ter Haar Syndrome	Redundant neck skin, Acne	OMIM:249420
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P...	OMIM:182250
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Recurrent skin infections, Hyperextensible skin, Ecchymosis, Bruising susceptibility, Fragile skin	OMIM:601776
Mandibuloacral Dysplasia Progeroid Syndrome	Progeroid facial appearance, Palmoplantar hyperkeratosis, Death in childhood	OMIM:619127
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Soft, doughy skin, Hyperextensible skin, Fragile skin	OMIM:271640
Shprintzen-Goldberg Syndrome	Hyperextensible skin	ORPHA:2462
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin	OMIM:618164
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Progeroid facial appearance	OMIM:614098
Leprechaunism	Reduced subcutaneous adipose tissue, Hyperkeratosis, Hyperextensible skin	ORPHA:508
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Soft skin, Redundant neck skin, Eczema	OMIM:617157
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Poor wound healing, Ecchymosis, Hyperextensible skin, Skin ulcer	ORPHA:2072
Occipital Horn Syndrome	Jaundice, Hyperextensible skin, Bruising susceptibility	ORPHA:198
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hyperextensible skin	ORPHA:508498
Branchioskeletogenital Syndrome	Periorbital wrinkles	ORPHA:1299
Mend Syndrome	Redundant neck skin	OMIM:300960
Autosomal Recessive Faciodigitogenital Syndrome	Hyperextensible skin	ORPHA:1974
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Hyperextensible skin	OMIM:130070
Zttk Syndrome	Hyperextensible skin	OMIM:617140
Ehlers-Danlos Syndrome, Vascular Type	Hyperextensible skin, Ecchymosis, Bruising susceptibility, Fragile skin, Dermal translucency	OMIM:130050
Down Syndrome	Redundant neck skin	OMIM:190685
Costello Syndrome	Redundant neck skin	OMIM:218040
Hypermobile Ehlers-Danlos Syndrome	Soft skin, Acrocyanosis, Hyperextensible skin	ORPHA:285
Gabriele-De Vries Syndrome	Hyperextensible skin	ORPHA:506358
Okamoto Syndrome	Redundant neck skin	ORPHA:2729
Yunis-Varon Syndrome	Redundant neck skin, Palmoplantar hyperkeratosis	OMIM:216340
Lacrimoauriculodentodigital Syndrome 1	Hyperextensible skin	OMIM:149730

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 Jup

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 Jup.

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

Title	Journal	IMPC Allele	PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Jup^{tm1.1(KOMP)Vlcg}	PMC5503261

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

MGI Allele	Allele Type	Produced
Jup^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Jup^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Jup^{tm33830(L1L2_gt2_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Jup^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Jup^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, 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: Jup MGI:96650

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

X-ray

MicroCT E14.5-E15.5

Eye Morphology

X-ray

X-ray

Embryo LacZ

Sleep Wake

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Jup mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data