Gene Summary

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

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
decreased monocyte cell number Hellstm1a(EUCOMM)Wtsi HOM Early adult 5.81×10-05
preweaning lethality, complete penetrance Hellstm1b(EUCOMM)Wtsi HOM   Early adult 7.54×10-06
decreased circulating LDL cholesterol level Hellstm1a(EUCOMM)Wtsi HOM Early adult 6.67×10-10
decreased heart rate Hellstm1b(EUCOMM)Wtsi HET   Early adult 6.42×10-07
decreased circulating triglyceride level Hellstm1a(EUCOMM)Wtsi HOM Early adult 6.42×10-11
increased cardiac stroke volume Hellstm1b(EUCOMM)Wtsi HET Early adult 3.98×10-11
abnormal gait Hellstm1a(EUCOMM)Wtsi HOM Early adult 5.93×10-07
decreased circulating cholesterol level Hellstm1a(EUCOMM)Wtsi HOM Early adult 2.85×10-05
dilated heart left ventricle Hellstm1b(EUCOMM)Wtsi HET Early adult 8.78×10-07

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
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

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
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Depressed nasal bridge OMIM:616911

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Respiratory insufficie... OMIM:156530
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Cryptorchidism, Rocker bottom foot, Areflexia of lower limbs, Arthrogryposis multi... OMIM:611890
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Parana Hard Skin Syndrome
Hyperkeratosis, Restricted chest movement, Respiratory insufficiency, Thickened skin, Generalized... ORPHA:2812
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Joint laxity, Spondylolysis, Ankle clonus, Os odontoideum, Lumbar hyper... OMIM:600561
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Pes planus, Phalangeal dislocation, Broad first metata... OMIM:251450
Chondroectodermal Dysplasia With Night Blindness
Metaphyseal irregularity, Congenital onychodystrophy, Equinovarus deformity, Wide humerus, Microg... ORPHA:319195
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Abnormality of the nail, Short finger, Kyphosis, Hyperextensibility of the finger ... OMIM:313420
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Abnormality of the ribs, Abnormality ... ORPHA:1988
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Laryngotracheomalacia, Abnormal respiratory system physiology, Flat acetabular roof, W... ORPHA:94068
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Dea... OMIM:184260
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Talipes, Joint hyperflexibility, Gait disturbance, Flexion contracture, Death in i... ORPHA:157973
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Hirsutism, S... OMIM:214150
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Small for gestational age, Multiple prenatal fractures, Multiple rib ... OMIM:616897
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Increased urinary urate, Renal tubular epithelial necrosis, Acute kidn... OMIM:220150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Sparse body hair, Aplasia/Hypoplasia of the eyebrow... ORPHA:1133
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Rhizomelic Chondrodysplasia Punctata, Type 1
Ichthyosis, Epiphyseal stippling, Coronal cleft vertebrae, Calcific stippling of infantile cartil... OMIM:215100
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Stuve-Wiedemann Syndrome
Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory insufficiency,... OMIM:601559
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Hyperkeratosis, Ataxia, Increased bone ... OMIM:136300
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... OMIM:618291
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, Ho... ORPHA:1505
Fibrodysplasia Ossificans Progressiva
Short hallux, Small cervical vertebral bodies, Scoliosis, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Slc35A2-Cdg
Scoliosis, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Joint h... ORPHA:356961
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Abnormality o... ORPHA:93351
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Osteoporosis, Platyspondyly, Enlarged interphalang... OMIM:208230
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Sandal gap, Hyperactivity, Decreased testicular size, Short neck, Obesity, Acanthosis ... ORPHA:85293
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Scoliosis, Platyspondyly, Enamel hypoplasia, Kyphosis, Irregular vertebral endplate... OMIM:234250
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral h... ORPHA:93284
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Thrombocytopenia, Metaphyseal dysplasia, Fai... OMIM:614727
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Urban-Rogers-Meyer Syndrome
Osteoporosis, Cryptorchidism, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of... ORPHA:3409
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Cryptorchidism, Pigmentary retinopathy, Loss of ability to walk, Respiratory insuffici... ORPHA:370968
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respira... OMIM:614399
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Flattened proximal radial ep... OMIM:271530
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Hyperlordosis, Metaphyseal chondrodysplasia, Abnormality of epiphysis m... ORPHA:2501
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Palmoplantar keratoderma, Premature graying of hair, Abnormal h... ORPHA:1979
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Scoliosis, Kyphosis, Long eyelashes, Hypoglycemia, Ataxia,... ORPHA:48431
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Cryptorchidism, Patellar subluxation, Radial deviation of finger, Clinodactyly, Ing... OMIM:309610
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in ep... OMIM:108720
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Wide anterior fontanel, Acantho... ORPHA:1860
Renpenning Syndrome
Abnormal thumb morphology, Thin eyebrow, Abnormal hair laboratory examination, Joint stiffness, C... ORPHA:3242
Mu-Heavy Chain Disease
Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, S... ORPHA:100024
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Cryptorchidism, Patellar subluxation, Finger clinodactyly, Inguinal hernia, Bilater... ORPHA:2958
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Warburg Micro Syndrome 1
Osteoporosis, Cryptorchidism, Joint hypermobility, Overlapping toe, Wide nasal bridge, Facial hyp... OMIM:600118
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Schwartz-Jampel Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Pes planus, Long eyelashes in irregular rows, Deat... ORPHA:800
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad first metatarsal, Ovoid vertebral bodies, Patent ... OMIM:239850
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Asbestos Intoxication
Clubbing of fingers, Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory c... ORPHA:2302
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Scoliosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Joint laxity, Delayed ... OMIM:616033
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Micrognathia, Femoral bowing, Micropenis, Elbow flexion contracture, Short neck, ... OMIM:210710
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Shashi-Pena Syndrome
Osteoporosis, Highly arched eyebrow, Scoliosis, Kyphosis, Hypoglycemia, Broad nasal tip OMIM:617190
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascu... ORPHA:49041
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Respiratory tract infection, Hypoplasia of the radius, Short femur, Talipes equin... OMIM:607143
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Scoliosis, Inability to walk, Bulbous nose, Failure to thrive in infancy, Tapered finger, Cachexi... OMIM:616801
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Abnormality of epiphysis morphology, Gait disturbance, Metac... ORPHA:2774
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Multiple renal cysts, Short femur, Abnormal ossification involving the ... ORPHA:1190
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Joint laxity, Slender toe, Delayed puberty, Small for gestational age, Dorsocervical f... ORPHA:391408
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Flynn-Aird Syndrome
Scoliosis, Primary adrenal insufficiency, Bone cyst, Kyphosis, Ataxia, Abnormality of the thyroid... ORPHA:2047
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Hyperparathyroidism, Osteolysis, Abnormal form of the vertebral bodies, B... ORPHA:93160
Hyperekplexia 4
Camptodactyly, Flexion contracture, Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Res... OMIM:618011
Forsythe-Wakeling Syndrome
Osteoporosis, Decreased body weight, Thrombocytopenia, Nephrotic syndrome, Prominent nasal bridge OMIM:613606
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Short neck, Kyphosis, Flexion contracture, Hyperextensibility at wrists, Adducted thum... ORPHA:75840
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis, Hypopigmentation of th... ORPHA:2786
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia, Death in childhood OMIM:200900
Christianson Syndrome
Dystonia, Arthrogryposis multiplex congenita, Truncal ataxia, Gait ataxia, Joint hyperflexibility... ORPHA:85278
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Increased serum serotonin, Small for gestational age, Congenital bilateral h... ORPHA:85288
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Male hypogonadism, Absent eyelashes, Sparse hair, Hyperkeratosis, Hypothyroidism, A... OMIM:618625
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Hyperkeratosis, Abnormality of the plantar skin of foot, Alo... ORPHA:69125
Alopecia-Intellectual Disability Syndrome
Scoliosis, Ichthyosis, Hypergonadotropic hypogonadism, Split hand, Flexion contracture, Sparse sc... ORPHA:2850
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Patent ductus arteriosus, Hypoplas... ORPHA:1972
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Cryptorchidism, Squared iliac bones, Low posterior hairline, Short neck, Cellulitis... OMIM:618000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Ventricular hypertrophy OMIM:619048
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus, Short distal phalanx of finger, Long thumb, Hypertrichosis, Absent dist... OMIM:618658
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Cachexia, Alopecia, Hypogonadism ORPHA:2574
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Dislocated radial head, Scoliosis, Platyspondyly, Long eyelash... OMIM:614856
Basan Syndrome
Hyperkeratosis, Cutaneous syndactyly of toes, Flexion contracture, Tapered finger OMIM:129200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Multiple lipomas, Limitation of joint mobility ORPHA:3294
Macs Syndrome
Osteoporosis, Cryptorchidism, Joint hypermobility, Scoliosis, Ichthyosis, Sparse hair, Bronchiect... OMIM:613075
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Abnormal lung morphology, Respiratory distress, Abnormal respi... ORPHA:70589
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Low anterior hairline, Low posterior hairline, Insulin resistance, Severe intrauter... ORPHA:73272
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Ichthyosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Lim... ORPHA:177
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Obesity, Hip dysplas... ORPHA:174
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Sparse hair, Finger syndactyly... ORPHA:1515
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Phalangeal dislocation, Slender long bones with... ORPHA:536467
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, ... ORPHA:266
Erythrokeratodermia Variabilis
Hypermelanotic macule, Irregular hyperpigmentation, Abnormality of the nail, Patchy palmoplantar ... ORPHA:317
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Sialidosis Type 2
Osteoporosis, Dyspnea, Kyphosis, Pedal edema, Flexion contracture, Umbilical hernia, Nephropathy,... ORPHA:87876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Mucopolysaccharidosis, Type Iva
Scoliosis, Constricted iliac wing, Joint laxity, Chondroitin sulfate excretion in urine, Ovoid ve... OMIM:253000
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Menkes Disease
Metaphyseal widening, Osteoporosis, Joint laxity, Sparse hair, Death in childhood, Intrauterine g... OMIM:309400
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... ORPHA:2722
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad... OMIM:304120
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Dystonia, Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevat... OMIM:610978
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Scoliosis, Osteolysis, Abno... OMIM:614008
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Bulbous nose, Split hand, Pes planus, Hirsutism, Interphalangeal joint con... OMIM:259600
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Cryptorchidism, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hy... OMIM:612447
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Delayed puberty, Type II diabetes mellitus, Generalized hirsutism, Generalized hy... ORPHA:2297
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Hypothyroidism, Flexion contracture, Hirsutism, Neutropenia, Respiratory insufficienc... OMIM:618005
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger ORPHA:2787
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Hepatic... ORPHA:157
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Nail-Patella Syndrome
Scoliosis, Enamel hypoplasia, Abnormality of tibia morphology, Hematuria, Pes planus, Toe walking... ORPHA:2614
Mucopolysaccharidosis, Type Ivb
Scoliosis, Constricted iliac wing, Joint laxity, Ovoid vertebral bodies, Grayish enamel, Osteopor... OMIM:253010
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Short metatarsal, Short nose, Short phalanx of finger, Red hair, Hyperactivity, C... OMIM:614613
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:616081
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... ORPHA:2251
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Central hypothyroidism, Type II diabetes mellitus, Decreased testicula... ORPHA:398079
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Cryptorchidism, Increased vertebral height, Gait ataxia, Truncal ataxia, Sparse ha... OMIM:616817
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Death in infancy, Abnormality of the metacarpal b... ORPHA:1106
Lichtenstein Syndrome
Osteoporosis, Enamel hypoplasia, Hirsutism, Neutropenia, Synophrys, Pes cavus, Metacarpophalangea... OMIM:246550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Pseudopseudohypoparathyroidism
Osteoporosis, Enamel hypoplasia, Short metatarsal, Pseudohypoparathyroidism, Obesity, Short metac... OMIM:612463
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Death in childhood, Splenomegaly, Lymphadenopathy OMIM:619164
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Sleep apnea, Failure to thrive in infancy, Delayed puberty, Type II di... OMIM:176270
Mcdonough Syndrome
Scoliosis, Cryptorchidism, Underdeveloped nasal alae, Kyphosis, Synophrys, Cachexia, Micrognathia... ORPHA:2471
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Pes planus, Long eyelashes in irregular rows, Wrist flexion contractu... OMIM:255800
Camurati-Engelmann Disease
Scoliosis, Abnormality of tibia morphology, Pes planus, Hyperostosis, Delayed puberty, Waddling g... ORPHA:1328
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Respiratory insufficiency due to muscle weakness, Pes cavus OMIM:617087
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Palmoplantar hyperkeratosis, Palmoplantar blistering, Hyperkeratosis, Atrophic sc... ORPHA:89838
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuf... OMIM:208081
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, White hair, Tracheoma... ORPHA:896
Hajdu-Cheney Syndrome
Foot acroosteolysis, Cryptorchidism, Joint laxity, Hirsutism, Patent ductus arteriosus, Pathologi... OMIM:102500
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Sparse hair, Pigmentary retinopathy, Long eyelashes, Delay... OMIM:275400
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Spastic gait, Hypocholesterolemia OMIM:256840
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Cachex... ORPHA:2930
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatic steatosis, He... ORPHA:228308
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Horizontal ribs, Respiratory insufficiency, Omphalocele, Bowing of the ... OMIM:269860
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar keratoderma, Palmoplantar hyperke... ORPHA:1010
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Waddling gait, Short femoral neck, Hump-shaped mound of ... ORPHA:99642
Histidinuria-Renal Tubular Defect Syndrome
Hypoplastic toenails, Short middle phalanx of finger, Hypoglycemia, Wide nasal bridge, Histidinur... ORPHA:2158
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Apnea, Brushfield spots, Pigmentary retinopathy, Camptodactyly, Aminoaciduria, Hy... OMIM:214110
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Respiratory insufficiency, Abnormality of the metacarpal bones, Increa... ORPHA:628
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Short finger, Alopecia totalis, Hyperpigmentation of the skin, Death in ... OMIM:302000
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hypertrichotic Osteochondrodysplasia, Cantu Type
Broad hallux phalanx, Ovoid vertebral bodies, Patent ductus arteriosus, Short distal phalanx of f... ORPHA:1517
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Pes planus, Small epiphyses, Short femoral neck, Advanced ossification of carpal bones... OMIM:618363
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen ovale, Tetralogy o... OMIM:601005
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Low posterior hairline, Congenital hip dislocation, Short n... ORPHA:93333
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Hypercholesterolemia, Hypoalbuminemia, Ataxia OMIM:607250
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Spinal dysr... ORPHA:96334
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Toe syndactyly, Congenital hip dislocation, Underdeveloped nasal alae, Finger syn... ORPHA:217346
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Joint stiffness, Cachexia ORPHA:1144
Microcephaly-Micromelia Syndrome
Oligodactyly, Abnormality of the ribs, Humeroradial synostosis, Craniosynostosis, Short neck, For... OMIM:251230
Pulmonary Blastoma
Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Recurrent pneumonia, Hemoptysis, Pulmonary... ORPHA:64741
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, I... OMIM:259450
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hyperkeratosis ORPHA:505
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Epiphyseal stippling, Congenital hip dislocation, Short clavicles, Micrognathia, Hypop... OMIM:308050
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Melanocytic nevus, Flexion contracture, Central adrenal insufficiency, Adrenal insufficiency, Del... OMIM:612079
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Farber Disease
Respiratory insufficiency, Laryngeal stridor, Anemia, Lymphadenopathy, Osteoporosis, Respiratory ... ORPHA:333
Isolated Glycerol Kinase Deficiency
Osteoporosis, Cryptorchidism, Adrenocortical hypoplasia, Hyperlordosis, Scoliosis ORPHA:408
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Postaxial polydactyly, Narrow greater sciatic notch, Absent gallbladder, Low pos... OMIM:617925
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Hypoplasia of the epiglottis, Syndactyly, Broad nasal tip, Recurrent as... OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Mehmo Syndrome
Inability to walk, Male hypogonadism, Gait ataxia, Difficulty walking, Decreased response to grow... OMIM:300148
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Scoliosis, Talipes equinovarus, Obstructive sleep apnea, Short neck, Anteverted nares, Wide nasal... ORPHA:371364
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Delayed puberty, Small for gestational age, Hyperpigmented nevi, ... ORPHA:2959
Proteus Syndrome
Hyperkeratosis, Multiple lipomas, Splenomegaly, Kyphoscoliosis, Mandibular hyperostosis, Thin bon... OMIM:176920
Bruck Syndrome
Osteoporosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Bowing of t... ORPHA:2771
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Decreased body weight, Small for gestational age,... OMIM:618392
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Osteoporosis, Joint laxity, Loss of ability to walk, Crump... ORPHA:2788
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Acanthosis nigricans, No... ORPHA:411593
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardiac death,... OMIM:609040
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Epiphyseal stippling, Tracheal calcification, Polydactyly, Postaxial polydactyly, Tars... OMIM:302960
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Wide anterior fontanel, Overlapping toe, Deep-set nails, Wide ... OMIM:201170
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mell... ORPHA:181393
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Sleep apnea, Central hypothyroidism, Type II diabetes mellitus, Decrea... ORPHA:398069
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Thumb Deformity And Alopecia
Alopecia, Short thumb, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Dyspnea, Short nose, Respiratory distress, Short neck, Respiratory failure, I... ORPHA:1832
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Joint laxity, Laryngotracheomalacia, Metaphyseal irregularity, Small ... ORPHA:93360
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Hypoplasia of the ulna, Respiratory insufficiency, Mesomelia, Neonatal death, S... OMIM:228940
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Abnormal thumb morphology, Talipes, Abnormality of epiphysis mor... ORPHA:1842
Silver-Russell Syndrome
Scoliosis, Cryptorchidism, Lower limb asymmetry, Abnormal appendicular skeleton morphology, Insul... ORPHA:813
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Autosomal Dominant Hyper-Ige Syndrome
Scoliosis, Osteomyelitis, Craniosynostosis, Cellulitis, Abnormal hair morphology, Joint hyperflex... ORPHA:2314
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Femoral bowing, Enlargement of the ankles, Subperiosteal bone resorption, Enam... OMIM:277440
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Short nose, Abnormal form of the vertebral bodies, Abnormality of the m... ORPHA:2370
Premature Aging Syndrome, Penttinen Type
Scoliosis, Sparse hair, Hyperkeratosis, Lipoatrophy, Elevated circulating thyroid-stimulating hor... OMIM:601812
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, L... OMIM:249700
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Platyspondyly, Toe syndactyly, Hypoglycemia, Cone-shaped epiphyses of the distal ... OMIM:618958
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Ivic Syndrome
Scoliosis, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth,... OMIM:147750
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contracture, Cutaneous ... OMIM:203550
Glycerol Kinase Deficiency
Osteoporosis, Cryptorchidism, Adrenocortical hypoplasia, Lethargy, Hypoglycemia, Adrenal insuffic... OMIM:307030
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Hypoglycemia, Decreased... ORPHA:314811
Hajdu-Cheney Syndrome
Hypoplastic 5th lumbar vertebrae, Scoliosis, Patent ductus arteriosus, Coarse hair, Short distal ... ORPHA:955
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism OMIM:615270
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Loss of ability to walk, Atelectasis, Achi... ORPHA:254361
Nicolaides-Baraitser Syndrome
Scoliosis, Cryptorchidism, Broad distal phalanx of finger, Highly arched eyebrow, Abnormality of ... ORPHA:3051
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Polydactyly, Hypothyroidism, Hypoglycemia, Clinodactyly of the 5th ... ORPHA:397590
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hirsutism, Small hand, Short foot, Hyperactivity, Talipes equinovarus, Hip d... OMIM:300434
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Respiratory failure, Achilles tendon contracture OMIM:604801
Mycetoma
Abnormality of the knee, Osteoporosis, Abnormal form of the vertebral bodies, Bone cyst, Back pai... ORPHA:2583
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Pelizaeus-Merzbacher Disease
Scoliosis, Dystonia, Kyphosis, Gait disturbance, Failure to thrive in infancy, Respiratory insuff... ORPHA:702
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Joint stiffness, Palmoplantar hyperkeratosis OMIM:617756
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Joint laxity, Recurrent fractures, Coarse hair, Reduced subcutaneous adipose tissue... OMIM:248010
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Shor... OMIM:103580
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Short neck, Broad tibial metaphyses, Gait disturbance, Back pain, Irre... OMIM:271630
Schaaf-Yang Syndrome
Scoliosis, Cryptorchidism, Rocker bottom foot, Sleep apnea, Arthrogryposis multiplex congenita, I... OMIM:615547
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Large iliac wing, Bulbous nose, Hydroureter, Abnormality of the metacarpal bones,... ORPHA:2636
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Obesity, Depressed nasal ... ORPHA:15
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Scoliosis, Short nose, Osteopenia, Hypoplasia of the ulna, Ankle clonus, Patent duc... OMIM:615398
Diencephalic Syndrome
Long penis, Large hands, Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituita... ORPHA:1672
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atriove... OMIM:212138
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Pes planus, Talocalcaneal synostosis, Sandal gap, Wide capital fe... OMIM:147891
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Low ... OMIM:612462
Cleidocranial Dysplasia
Scoliosis, Abnormal dental enamel morphology, Sleep apnea, Abnormality of the metacarpal bones, S... ORPHA:1452
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Aplasia/Hypoplasia of the thymus, Pol... ORPHA:2176
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal vertebral morphology,... OMIM:276950
Proteus Syndrome
Abnormality of skin pigmentation, Scoliosis, Abnormal dental enamel morphology, Craniosynostosis,... ORPHA:744
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Pachydermoperiostosis
Osteoporosis, Scoliosis, Osteolysis, Elevated circulating growth hormone concentration, Palmoplan... ORPHA:2796
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Sparse hair, Flared iliac win... OMIM:183849
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Endocardial Fibroelastosis
Cryptorchidism, Hypoglycemia, Sandal gap, Hypoplasia of penis, Micrognathia, Anterior hypopituita... ORPHA:2022
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Death in infancy, Respiratory insufficiency, Hypoglycemia, Neonatal respiratory d... OMIM:245400
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Generalized h... ORPHA:189427
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, Joint hyperflexibility, Cho... ORPHA:2759
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Ichthyosis, Abnormal dental enamel morphology, Sparse hair, Synostosis of carpal bones... ORPHA:1005
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Akinesia, Death in infancy, Neonatal death, Respiratory failu... OMIM:619334
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Bresek Syndrome
Scoliosis, Cryptorchidism, Ichthyosis, Postaxial hand polydactyly, Renal hypoplasia, Hemivertebra... ORPHA:85284
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Scoliosis, Respiratory distress, Difficulty walking, Ventilator dependence with inability to wean... ORPHA:254875
Borjeson-Forssman-Lehmann Syndrome
Shortening of all distal phalanges of the fingers, Cryptorchidism, Scoliosis, Cervical spinal can... OMIM:301900
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:90117
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circ... ORPHA:98754
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Cone-shaped epiphysis, Dentinogenesis imperfecta, Prominent nasal br... ORPHA:71267
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency, Cac... OMIM:618186
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder