Gene Summary

Name:
helicase, lymphoid specific
Synonyms:
LSH,  Lysh,  E130115I21Rik,  proliferation-associated SNF2-like,  PASG,  YFK8

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
dilated heart left ventricle Hellstm1b(EUCOMM)Wtsi HET Early adult 8.78×10-07
decreased monocyte cell number Hellstm1a(EUCOMM)Wtsi HOM Early adult 2.74×10-06
increased cardiac stroke volume Hellstm1b(EUCOMM)Wtsi HET Early adult 3.98×10-11
decreased circulating cholesterol level Hellstm1a(EUCOMM)Wtsi HOM Early adult 1.59×10-05
preweaning lethality, complete penetrance Hellstm1b(EUCOMM)Wtsi HOM   Early adult 7.54×10-06
decreased circulating triglyceride level Hellstm1a(EUCOMM)Wtsi HOM Early adult 6.13×10-09
abnormal gait Hellstm1a(EUCOMM)Wtsi HOM Early adult 5.85×10-07
decreased heart rate Hellstm1b(EUCOMM)Wtsi HET   Early adult 6.42×10-07
increased CD8-positive, alpha-beta T cell number Hellstm1a(EUCOMM)Wtsi HOM Early adult 2.29×10-05
decreased circulating LDL cholesterol level Hellstm1a(EUCOMM)Wtsi HOM Early adult 7.52×10-05

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
Cecum  Wholemount images heterozygote 100% (2 of 2)
Colon  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 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%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

12 Images

Electrocardiogram (ECG)

Waveform Image

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Hells 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl... OMIM:156530
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Chondroectodermal Dysplasia With Night Blindness
Nail dystrophy, Hyperconvex toenail, Hyperconvex fingernails, Wide humerus, Metaphyseal irregular... ORPHA:319195
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Parana Hard Skin Syndrome
Respiratory insufficiency, Hyperkeratosis, Restricted chest movement, Thickened skin, Generalized... ORPHA:2812
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Ankle clonus, Hypoplasia of the capital femoral epiphy... OMIM:600561
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Winchester Syndrome
Carpal osteolysis, Hirsutism, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis i... OMIM:277950
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Difficulty walking, Inability to walk, Scoliosis, Areflexia of lower limbs, K... OMIM:611890
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Kyphoscoliosis, Diaphyseal dysplasia, Hemolytic-uremic syndrome, Osteopo... OMIM:614727
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Inguinal hernia, Long penis, Polycystic kidney dys... ORPHA:1988
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Talipes, Respiratory insufficiency, Cachexia, Hyperlordosis, Limitation of joint... ORPHA:157973
Aredyld Syndrome
Lipoatrophy, Craniofacial hyperostosis, Abnormal dental enamel morphology, Scoliosis, Cachexia, A... ORPHA:1133
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Flynn-Aird Syndrome
Kyphoscoliosis, Alopecia of scalp, Increased bone mineral density, Hyperkeratosis, Osteoporosis, ... OMIM:136300
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Intrauterine growth retard... OMIM:616897
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Respiratory insufficiency, Hyperextensibility of the finger joints, Abnormality of ... OMIM:313420
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Ichthyosis, Rhizomelia, Severe failure to thrive, Epiphyseal stippling, Flared me... OMIM:215100
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Slc35A2-Cdg
Transient nephrotic syndrome, Osteopenia, Hip subluxation, Elevated circulating thyroid-stimulati... ORPHA:356961
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Abnormal foot morphology, Sclerotic vertebral endplates, Platyspondyly, Difficult... OMIM:208230
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Progressive Pseudorheumatoid Arthropathy Of Childhood
Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ... ORPHA:1159
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Lipoatrophy, Reduced bone mineral density, Abnormal hair morphology, C... ORPHA:1979
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
X-Linked Intellectual Disability, Cabezas Type
Sandal gap, Hypoplasia of penis, Cachexia, Kyphosis, Hypogonadism, Joint hypermobility, Inguinal ... ORPHA:85293
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Death in adolescence, Respiratory insufficiency due to muscle weaknes... OMIM:300717
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of... ORPHA:2501
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl... ORPHA:3409
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of connective tissue, Respiratory insufficiency, Calf muscle hypertrophy, Scoliosis, ... ORPHA:370968
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Anterior... OMIM:255800
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Death in in... OMIM:601559
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Spar... ORPHA:189
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Respirato... OMIM:135100
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Osteoporosis, Enamel hypoplasia, Failure to thrive, Metaphyseal dysplasia, B... OMIM:234250
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Osteogenesis Imperfecta, Type X
Tibial bowing, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, Fibular bowing, Rhizom... OMIM:613848
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Death in childhood, Second metatarsal posteriorly placed, Hir... OMIM:214150
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Joint stiffness, Palmoplantar hyperkeratosis, Onychogry... OMIM:617756
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Hypospadias, Cachexia, Abnormal rib mo... ORPHA:3242
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, Osteoporosis, Microgna... ORPHA:48431
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Aplastic/hypoplastic toenail, Tibial bow... ORPHA:240
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Acanthosis nigricans, Patent ductus arteriosus, Short greater sci... ORPHA:1860
Flynn-Aird Syndrome
Cachexia, Scoliosis, Bone cyst, Kyphosis, Joint stiffness, Primary adrenal insufficiency, Ataxia,... ORPHA:2047
Prieto Syndrome
Radial deviation of finger, 11 pairs of ribs, Inguinal hernia, Talipes equinovarus, Osteoporosis,... OMIM:309610
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick hair, Small nail, Absent... OMIM:618658
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Warburg Micro Syndrome 1
Kyphoscoliosis, Osteoporosis, Failure to thrive, Micrognathia, Joint hypermobility, Overlapping t... OMIM:600118
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Waddling gai... OMIM:618392
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Immunodeficiency 52
Death in childhood, Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Death... OMIM:617514
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head... OMIM:614856
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Hyperlordosis, Kyphosis, Constricted iliac wing, Joint hypermobility, Coxa v... OMIM:253000
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Osteoporosis, Bilateral talipes equinovarus, Cryptorchidism, Supernumerary ribs,... ORPHA:2958
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Cantu Syndrome
Large for gestational age, Platyspondyly, Patent ductus arteriosus, Curly eyelashes, Short hallux... OMIM:239850
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Dysuria, Ne... ORPHA:49041
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Inability to walk, Cachexia, Scoliosis, Failure to thrive in infancy, Hip contracture... OMIM:616801
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Joint hypermobility, Scoliosis... OMIM:616033
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Carpal osteolysis, Slender long bone, Cachexia, Limitation of joint mobili... ORPHA:2774
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal adipose tissu... ORPHA:93160
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Wrist flexion contracture, ... ORPHA:800
Spastic Paraplegia 18B, Autosomal Recessive
Pes cavus, Inability to walk, Scoliosis, Kyphosis, Gait disturbance, Joint contracture, Ankle clonus OMIM:611225
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv... OMIM:616300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized... OMIM:600785
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Kyphosis, Osteoporosis, Platyspondyly, Al... ORPHA:2786
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia OMIM:200900
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Thin nail, Hyperkeratosis, Absent eyelashes, Osteoporosis, Absent eyebrow, Cafe-a... OMIM:618625
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Platyspondyly, Int... OMIM:271530
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Abnormal p... ORPHA:1190
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Moynahan Syndrome
Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair, Alopecia ORPHA:2574
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Proteus Syndrome
Kyphoscoliosis, Lipoma, Hyperkeratosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal c... OMIM:176920
Anonychia With Flexural Pigmentation
Alopecia of scalp, Hypermelanotic macule, Abnormal hair morphology, Hyperkeratosis, Anonychia, Ax... ORPHA:69125
Christianson Syndrome
Death in early adulthood, Truncal ataxia, Cachexia, Gait ataxia, Thick eyebrow, Joint hypermobili... ORPHA:85278
Majeed Syndrome
Congenital hypoplastic anemia, Hypochromic microcytic anemia, Increased bone mineral density, Cac... ORPHA:77297
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Hypospadias, Sandal gap, Short ribs, H... OMIM:607143
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Hyperpigmentation of the skin, Abnormality of the nail, Alopeci... OMIM:302000
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy, Bradycardia OMIM:619048
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Multiple lipomas, Limitation of joint mobility, Osteoporosis ORPHA:3294
Ullrich Congenital Muscular Dystrophy
Pes valgus, Spinal rigidity, Scoliosis, Elbow flexion contracture, Kyphosis, Slender finger, Resp... ORPHA:75840
Bent Bone Dysplasia Syndrome 2
Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Intrauterine growth retard... OMIM:620076
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Flexion contracture, Short neck OMIM:168400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Delayed puberty, Sparse hair, Joint hypermobility, Intrauterine growth retardatio... ORPHA:391408
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Ataxia, Splenomega... ORPHA:1328
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... ORPHA:317
Hyperekplexia 4
Kyphoscoliosis, Inguinal hernia, Camptodactyly, Respiratory failure, Flexion contracture, Distal ... OMIM:618011
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia, Decreased body weight, Osteoporosis OMIM:613606
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Ichthyosis, Rhizomelia, Spina bifida occulta, Epiphyseal stipplin... ORPHA:177
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Lumbar ... OMIM:100800
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Triphalangeal thumb, Hyperpigmentation of the skin, Finger syndactyly... ORPHA:2251
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Ataxia, Jo... OMIM:253010
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory insufficiency, Failure to thrive, Joint contracture, Respiratory ... OMIM:616081
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Sparse eyebrow, Abnormal fingernail morphology, Sparse hair, Hypoplastic toenai... ORPHA:2722
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short long bone, Short ribs, Splenomegaly, Intrauterine growth retardation, Cystic r... OMIM:269860
Insulin-Resistance Syndrome Type A
Delayed puberty, Hyperkeratosis, Generalized hirsutism, Type II diabetes mellitus, Generalized hy... ORPHA:2297
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Hypermelanotic macule, Ankylosis of feet small joints, Thin metacarpal cortices, ... OMIM:259600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, F... OMIM:226980
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Rh... ORPHA:1515
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Joint hypermobility, Osteoporosis, Brachydactyly ORPHA:2787
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Nail-Patella Syndrome
Abnormal femur morphology, Spondylolysis, Spondylolisthesis, Reduced bone mineral density, Disloc... ORPHA:2614
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hirsutism, Kyphosis, Increased serum serotonin, Recurrent r... ORPHA:85288
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Death in infan... ORPHA:1106
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Delayed puberty, Increased vertebral height, Abnormal vertebral morphology, Trunc... OMIM:616817
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Repeated pneumothoraces, Arachnodactyly, Slender long bones with narrow diaphyses... ORPHA:536467
Shashi-Pena Syndrome
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Scoliosis, Sho... OMIM:617190
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Short metatarsal, Hypospadias, Short metacarpal, Congenital hypothyroidism, Cryptorchid... OMIM:614613
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Immunodeficiency 76
Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Small nail, Absent toe, Short ribs, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical... OMIM:308050
Alopecia-Intellectual Disability Syndrome
Ichthyosis, Scoliosis, Split hand, Sparse scalp hair, Hypergonadotropic hypogonadism, Sparse body... ORPHA:2850
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ... ORPHA:2114
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Anemia, Cachexia, Dystrophic toenail, Patchy alopec... ORPHA:2930
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... OMIM:618188
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ... OMIM:210710
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Sialidosis Type 2
Inguinal hernia, Kyphosis, Osteoporosis, Ataxia, Flexion contracture, Splenomegaly, Umbilical her... ORPHA:87876
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Neuropathy, Congenital Hypomyelinating, 3
Abnormal foot morphology, Respiratory insufficiency, Cachexia, 2-3 toe syndactyly, Bilateral tali... OMIM:618186
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Long... OMIM:275400
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Hyperkeratosis, Atrophic scars, Dystrophic toenail, H... ORPHA:89838
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Scoliosis, Camptodactyly of finger, Failure to thrive, Respiratory fai... OMIM:614399
Immunodeficiency 105
Death in childhood, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B l... OMIM:619924
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Supernumerary ribs, Absent thumb, Apl... OMIM:612447
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Small nail, Joint stiffness, Intrauterine growth retardation, Clinodactyly, Media... OMIM:620494
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Waddling gait, Irregular acet... OMIM:617974
Werner Syndrome
Premature graying of hair, Lipoatrophy, Rocker bottom foot, Miscarriage, White forelock, Joint st... ORPHA:902
X-Linked Dominant Chondrodysplasia Punctata
Kyphoscoliosis, Abnormally ossified vertebrae, Neonatal epiphyseal stippling, Patellar dislocatio... ORPHA:35173
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E... OMIM:611878
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Joint stiffness, Arachnodactyly, Cachexia ORPHA:1144
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Osteoporosis, Pseudohypoparathyroidism, Enamel hypoplasia, Ob... OMIM:612463
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Osteoporosis, Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Small placenta, Severe intrauterine growth retardation, Intrauter... ORPHA:73272
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Clinodactyly of the 5th finger, Sparse or absent eyelashes, Hypospadias, Recurren... ORPHA:217346
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Isosexual precocious puberty, Abnormal femoral neck/head morphology, Crumpled long bo... ORPHA:2788
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Osteopenia, Neutropenia, Recurrent lower respiratory tract infections, Hirsutism,... OMIM:618005
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Synophrys, Micrognathia, Cryptorchidism ORPHA:2471
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Low posterior hairline, Umbilical hernia,... OMIM:618000
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Abnormal appendicular skeleton morpholog... ORPHA:813
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Hypothyroidism, Ataxia, Sp... ORPHA:3363
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia, Abnormal finger morphology, White hair, Synostosis of carpal bones, ... ORPHA:896
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Cox... OMIM:259450
Mycetoma
Vertebral compression fracture, Abnormal form of the vertebral bodies, Abnormal appendicular skel... ORPHA:2583
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Short thumb, Alopecia OMIM:188150
Cantú Syndrome
Deep plantar creases, Low posterior hairline, Umbilical hernia, Short distal phalanx of finger, B... ORPHA:1517
Ruijs-Aalfs Syndrome
Premature graying of hair, Elbow flexion contracture, Thoracic kyphoscoliosis, Decreased body wei... OMIM:616200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Pes cavus, Distal lower limb muscle weakness, Steppage gait, Knee flexion contractu... OMIM:615290
Menkes Disease
Death in childhood, Brittle hair, Metaphyseal spurs, Hypopigmentation of the skin, Osteoporosis, ... OMIM:309400
Bruck Syndrome
Respiratory insufficiency, Scoliosis, Bowing of the long bones, Kyphosis, Osteoporosis, Joint sti... ORPHA:2771
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Abnormal metacarpal morphology, Curly eyelashes, Sandal gap, High... ORPHA:3051
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing... OMIM:251230
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited knee flexion/extension, Inability to walk, Respiratory insufficiency, Limited elbow flexi... ORPHA:266
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrogryposis multiple... OMIM:618291
Insulin Autoimmune Syndrome
Acanthosis nigricans, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemi... ORPHA:411593
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Acanthosis nigricans, Reduced bone mineral density, Truncal obesity, Bro... OMIM:620639
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypopigmentation of the skin, Hypogonadism, Hypothalamic luteinizing hormo... ORPHA:398079
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Abnormality o... OMIM:147891
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Small nail, Hypo... ORPHA:96334
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Hyaline Fibromatosis Syndrome
Osteopenia, Osteoporosis, Thickened skin, Failure to thrive, Flexion contracture, Progressive fle... OMIM:228600
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Nail dystrophy, Aplastic anemia, Macrocytic anemia, Bo... OMIM:613990
Pelizaeus-Merzbacher Disease
Respiratory insufficiency, Cachexia, Scoliosis, Gait disturbance, Kyphosis, Joint stiffness, Atax... ORPHA:702
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... ORPHA:314811
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia ORPHA:67046
Pelviscapular Dysplasia
Elbow flexion contracture, Hypoplastic ilia, Low posterior hairline, Congenital hip dislocation, ... ORPHA:93333
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Tapered distal phalanges of finger, Cachexia, Scoliosis, Elbow flexion ... ORPHA:371364
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Difficulty walking, Inabi... OMIM:300148
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave verteb... ORPHA:955
Macs Syndrome
Ichthyosis, Scoliosis, Decreased body weight, Osteoporosis, Bronchiectasis, Umbilical hernia, Hyp... OMIM:613075
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to ... OMIM:103580
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif... ORPHA:166011
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Scoliosis, Hypermobility of interphalangeal joints, Bowi... OMIM:613849
Vitamin D-Dependent Rickets, Type 2A
Rickets, Elevated circulating parathyroid hormone level, Difficulty walking, Fibular bowing, Dela... OMIM:277440
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Farber Disease
Short finger, Abnormal foot morphology, Atelectasis, Anemia, Lymphadenopathy, Respiratory insuffi... ORPHA:333
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Larg... ORPHA:1672
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dystrophic to... OMIM:617294
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormal femur morphology, Abnormal diaphysis morphology, Rhizomelia, ... ORPHA:1842
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog... OMIM:617912
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Hyperpigmented nevi, Low posterior hairline, T lymphoc... ORPHA:2959
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Tibial bowing, Thickened skin, Flexion contracture of finger, Sparse hair, Cervical ... OMIM:601812
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... OMIM:190351
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Polycystic kidney dysplasia, Pigmentary retinopathy, Camptodactyly, Hypoplasi... OMIM:214110
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Camptodactyly, Kyphosis, Prenatal death, Cryptorchidism, Mi... OMIM:618393
Pachydermoperiostosis
Palmoplantar keratoderma, Abnormal cortical bone morphology, Anemia, Abnormal hair quantity, Scol... ORPHA:2796
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Inguinal hernia, Homocystinuria, Brittle hair, Scoliosis, Hypopigmentation of the... OMIM:236200
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple... OMIM:269840
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Neonatal inspiratory stridor, Slender metacarpals, Metaphyseal irregula... ORPHA:93360
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Epiphyseal dyspl... ORPHA:79106
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Umbilic... OMIM:102500
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus, Gout, Glucose intolerance OMIM:610947
Perrault Syndrome 1
Pes cavus, Scoliosis, Osteoporosis, Gait ataxia, Ataxia, Increased circulating gonadotropin level... OMIM:233400
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Combined Oxidative Phosphorylation Deficiency 47
Short palm, Short neck, Failure to thrive, Platyspondyly, Toe syndactyly, Hypoglycemia, Cryptorch... OMIM:618958
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Elevated circulating thyroid-stimulating hormone concentration, Decre... OMIM:610978
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Fle... OMIM:203550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Infantile Systemic Hyalinosis
Osteopenia, Abnormality of the adrenal glands, Hyperpigmentation of the skin, Osteoporosis, Micro... ORPHA:2176
Lethal Congenital Contracture Syndrome 10
Stiff neck, Short long bone, Femoral bowing, Hypoplasia of the thymus, Omphalocele, Thoracic scol... OMIM:617022
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Hypermelanotic macule, Hypomelanotic macule, Mixed hypo- and hype... ORPHA:79397
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Nail dysplasia, Nail dystrophy, Genu valgum, Osteopenia, Metaphyseal s... OMIM:612199
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cervical spinal canal stenosis, Shortening of all middle phalanges of the finger... OMIM:301900
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Osteoporosis, Kyphosis, Failure to thrive, Pigmentary retinopathy OMIM:618234
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Recurrent lower respiratory tract infect... OMIM:231070
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Tracheobronchomalacia... ORPHA:70589
Carnitine-Acylcarnitine Translocase Deficiency