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Gene: Calb1 MGI:88248

Gene Summary

Name:

calbindin 1

Synonyms:

calbindin-D (28k), CB, Calb, Brain-2, CalbindinD28K, Calb-1, calbindin

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hydrometra	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart left ventricle morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.03×10^-06
enlarged heart	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased cardiac muscle contractility	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.34×10^-06
abnormal spine curvature	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.51×10^-05
abnormal vertebrae morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.33×10^-11
abnormal spleen morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal vertebral arch morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.44×10^-11
abnormal heart morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small spleen	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal uterus morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
kyphosis	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.35×10^-06

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Human diseases caused by Calb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Calb1 (0 diseases)
Human diseases predicted to be associated with Calb1 (921 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Calb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Angelman syndrome (Type 1)	EEG abnormality, Truncal ataxia	DECIPHER:4
Angelman syndrome (Type 2)	EEG abnormality, Truncal ataxia	DECIPHER:54
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Developmental Delay With Dysmorphic Facies And Dental Anomalies	EEG abnormality, Spasticity, Ataxia	OMIM:619228
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Megalencephaly With Dysmyelination	Spasticity, Ataxia, EEG with photoparoxysmal response	OMIM:249240
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Autosomal Recessive Spastic Paraplegia Type 27	Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Ab...	ORPHA:101007
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa...	OMIM:615625
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax...	ORPHA:101108
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Progressive Myoclonic Epilepsy Type 1	EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten...	ORPHA:308
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges	OMIM:616187
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Epilepsy, Progressive Myoclonic, 11	Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor	OMIM:618876
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Ataxia, Myoclonus, Interictal epileptiform activity, EEG with ...	OMIM:254800
Sandhoff Disease	Splenomegaly, Kyphosis, Congestive heart failure, Hepatomegaly	ORPHA:796
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Kyphosis, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Spinal c...	ORPHA:93476
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nervous system electroph...	OMIM:256731
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge...	OMIM:235200
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card...	OMIM:602390
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,...	ORPHA:1354
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis	OMIM:300718
Episodic Ataxia, Type 5	Ataxia, EEG with generalized spikes, Myoclonus, Truncal ataxia, Episodic ataxia, EEG with spike-w...	OMIM:613855
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Abnormal form of the vertebral bodies	ORPHA:1802
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:611225
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Micropenis, Sch...	OMIM:301900
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Cardiomyopathy, Hepat...	OMIM:613313
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis	ORPHA:1548
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert...	OMIM:252920
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Platyspondyly, Scoliosis, Reduced sperm motility	OMIM:602271
Congenital Myopathy 8	Congestive heart failure, Scoliosis, Cardiomegaly	OMIM:618654
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Congestive heart failure, ...	ORPHA:324410
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Kyphosis, Congestive heart failure, Macrovesicular ...	OMIM:618234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Arrhythmia	OMIM:618453
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Second...	ORPHA:3085
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Short neck	OMIM:618393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocytopenia, Cryptorchidism...	OMIM:617053
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic...	OMIM:619123
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym...	OMIM:230500
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Proteus Syndrome	Splenomegaly, Lymphangioma, Spinal canal stenosis, Kyphoscoliosis	OMIM:176920
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Ascites	OMIM:269920
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Increased serum serotonin	ORPHA:85288
Genitopalatocardiac Syndrome	Hypospadias, Kyphosis, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchid...	ORPHA:2075
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Scoliosis, Delayed puberty	ORPHA:2598
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom...	OMIM:300280
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated jugu...	ORPHA:465508
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Kyphosis, Scoliosis, Short neck	ORPHA:178148
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ...	ORPHA:77259
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dilate...	OMIM:615084
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, Kyphosis, Scoliosis, Short neck	OMIM:611890
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal defect	ORPHA:352490
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor...	ORPHA:2311
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se...	OMIM:608776
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Sialidosis Type 2	Splenomegaly, Kyphosis, Ascites, Hepatomegaly	ORPHA:87876
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Roifman Syndrome	Hepatomegaly, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular septal defect,...	OMIM:616651
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Type II ...	ORPHA:3191
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Short neck, Thromboc...	OMIM:606003
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Abnormal sacrum morpholog...	ORPHA:1926
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Scoliosis	OMIM:252900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Cryptorchidism, Kyphosis, Scoliosis,...	OMIM:615381
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Hypertrophic cardiomyopathy	OMIM:618237
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati...	ORPHA:417
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size	OMIM:615433
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Congestiv...	ORPHA:615
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism	ORPHA:2617
Winchester Syndrome	Kyphosis	OMIM:277950
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Kyphosis, Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism	OMIM:618484
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hype...	OMIM:252930
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cyst...	ORPHA:464329
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Impotence, Arrhythmia	ORPHA:85447
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Mucolipidosis Iii Gamma	Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis	OMIM:252605
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Cardiomegaly, Short neck, Pericardial effusion, Cu...	OMIM:239850
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis	ORPHA:583
Cardiac-Urogenital Syndrome	Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Mcdonough Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2471
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Abnormal morphology of female internal gen...	ORPHA:1797
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Alpha-Mannosidosis	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Type II diabetes mellitus, Scoliosis	ORPHA:61
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Partial Androgen Insensitivity Syndrome	Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Atrial septal defect, External genital hypoplasia, Inappropriat...	ORPHA:79330
Becker Nevus Syndrome	Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ...	ORPHA:64755
Ruvalcaba Syndrome	Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism	OMIM:180870
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte...	ORPHA:2522
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Anemia, Sclerotic vertebral endplates, Thrombocytopenia	OMIM:611490
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abn...	ORPHA:3097
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Scoliosis, Cryptorchidism	OMIM:619797
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia	ORPHA:1046
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Scoliosis	ORPHA:48431
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir...	ORPHA:79301
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypoplastic vertebral bodies, Platyspondyly, B...	OMIM:618641
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hypospadias, Ventricular septal defect, Short neck, Precocious puberty, Cry...	ORPHA:254346
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Pancreatic lymphangiectasis, C...	ORPHA:1655
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Scoliosis	OMIM:300602
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ...	ORPHA:2414
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:3109
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ...	OMIM:614841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia of the uterus, Scoliosis, T...	ORPHA:3320
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Alpha-N-Acetylgalactosaminidase Deficiency	Scoliosis, Cardiomegaly	ORPHA:3137
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Alg1-Cdg	Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy	ORPHA:79327
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Lacunar stroke, Thoracic kyphosis, Scoliosis, Hypothy...	OMIM:618440
Satoyoshi Syndrome	Hyperlordosis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,...	ORPHA:3130
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ...	ORPHA:349
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl...	OMIM:617022
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Hypertrophic cardiomyopathy, Pl...	OMIM:616897
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Kyphosis, Cryptorchidism, Hypogonadism, Delayed puberty, Micropenis, Decreased testi...	OMIM:300354
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn...	ORPHA:94065
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block...	ORPHA:398124
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Kyphosis, Mitral regurgitation, Scoliosis, Pulm...	OMIM:607015
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly...	ORPHA:251066
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
3C Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Adrenal hypoplasia, Short neck, Abno...	ORPHA:7
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ...	OMIM:305400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ...	ORPHA:2232
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Cardiomegaly	ORPHA:88643
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Congestive heart failure, Cardiomyo...	OMIM:212140
Gm1 Gangliosidosis	Ventricular septal defect, Hyperlordosis, Kyphosis, Splenomegaly, Congestive heart failure, Abnor...	ORPHA:354
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,...	OMIM:253000
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism	ORPHA:3409
Alstrom Syndrome	Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro...	OMIM:203800
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Sialidosis Type 1	Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column, Bicornuate uterus	OMIM:601076
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Cholelith...	OMIM:160900
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Hypertension, Cholestasis	OMIM:105200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:300510
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n...	OMIM:169400
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc...	OMIM:618886
Trisomy 13	Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect, Displacemen...	ORPHA:3378
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Short neck, Hypertension, Pulmonary arterial hypertension, Dysplastic sacrum, Sever...	OMIM:613320
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat...	OMIM:600649
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma...	OMIM:619151
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta	ORPHA:2983
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Diastrophic Dysplasia	Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ...	ORPHA:628
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti...	OMIM:253250
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, K...	ORPHA:392
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary ...	ORPHA:2348
Rhizomelic Syndrome, Urbach Type	Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Micropenis, Scolio...	OMIM:619951
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a...	OMIM:300942
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Weismann-Netter Syndrome	Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia	ORPHA:3344
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Sea-blue hist...	OMIM:230600
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor...	OMIM:253220
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Premature ovarian insufficiency, Scoliosis	OMIM:618124
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,...	ORPHA:2916
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Abnormal left ventricular func...	OMIM:607155
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis,...	OMIM:609008
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospadias, Abnorma...	ORPHA:887
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Spl...	OMIM:607014
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy...	OMIM:601005
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ascites, Micropenis	OMIM:602361
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation...	ORPHA:261250
Schaaf-Yang Syndrome	Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis	OMIM:615547
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Cowden Syndrome 5	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom...	OMIM:615108
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ...	ORPHA:1517
Cowden Syndrome 1	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio...	OMIM:158350
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Cowden Syndrome 6	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom...	OMIM:615109
Seckel Syndrome 7	Hypoplasia of the uterus, Lumbar scoliosis, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Noonan Syndrome 14	Aortic regurgitation, Short neck, Cryptorchidism, Kyphosis, Mitral valve prolapse, Pulmonic steno...	OMIM:619745
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiomyopathy, Congestive heart...	OMIM:615895
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck	ORPHA:3082
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis	ORPHA:404440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hemivertebrae, Abnor...	ORPHA:77298
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ...	OMIM:271520
Cockayne Syndrome Type 2	Hepatomegaly, Cryptorchidism, Kyphosis, Scoliosis, Male hypogonadism	ORPHA:90322
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Panc...	OMIM:235255
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Spinal rigidity, Cardiomegaly, Hyperlordosis, Right bundle branch block, Reduced le...	ORPHA:268
Lateral Meningocele Syndrome	Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ...	ORPHA:2789
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Emanuel Syndrome	Sacral dimple, Truncus arteriosus, Ventricular septal defect, Kyphosis, Cryptorchidism, Aortic va...	OMIM:609029
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis	ORPHA:75234
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Ruvalcaba Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology	ORPHA:3121
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve...	ORPHA:1724
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse	ORPHA:137834
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Type II diabetes mellitus, Scoliosis, Type I diabetes mellitus	ORPHA:1133
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Splenomegaly, Pulmonic stenosis, Atrial ...	OMIM:608149
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Wilson Disease	Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaun...	ORPHA:905
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Congestive hea...	OMIM:309900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho...	ORPHA:98855
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Jaundice, Splenomegaly, Congest...	OMIM:615512
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b...	OMIM:301040
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Scoliosis, Ant...	ORPHA:584
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypoplastic spleen, Th...	OMIM:185070
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis	OMIM:248700
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Scoliosis, Short neck	ORPHA:75840
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, ...	ORPHA:98863
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pancytopenia, Portal hypertension, H...	OMIM:613385
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho...	ORPHA:98853
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect, Premature pubarche, Small scrotum, External genital hypoplasia, Precocious ...	ORPHA:398069
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Koolen-De Vries Syndrome	Vertebral fusion, Hypospadias, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Vertebral segment...	ORPHA:96169
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr...	ORPHA:324737
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Infertility, Scoliosis	OMIM:614409
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta	OMIM:617466
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis...	OMIM:253010
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Arthrogryposis, Distal, Type 4	Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Meckel Syndrome 14	Tricuspid regurgitation, Short neck, Mitral regurgitation, Hepatic fibrosis, Aplasia of the uteru...	OMIM:619879
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Angina pectoris, Short...	ORPHA:93473
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, R...	OMIM:201475
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Impotence	OMIM:268800
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Kyphosis, Scoliosis	ORPHA:2181
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Scoliosis, Atrial septal defect, Intestinal lymphangiectasia, Asc...	OMIM:616843
Harrod Syndrome	Kyphosis, Hypospadias, Scoliosis, Cryptorchidism	ORPHA:2115
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph...	OMIM:308240
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Pagod Syndrome	Sudden cardiac death, Situs inversus totalis, Abnormality of the spleen, Agonadism, Hypoplastic l...	ORPHA:991
Müllerian Aplasia And Hyperandrogenism	Short neck, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abn...	ORPHA:247768
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Kyphosis, Mitral regurgitation, Atrial septal defect	OMIM:603387
Distal Triplication 15Q	Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At...	ORPHA:314588
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Lateral Meningocele Syndrome	Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor...	OMIM:130720
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis	OMIM:615834
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
15Q14 Microdeletion Syndrome	Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis	ORPHA:261190
Thanatophoric Dysplasia	Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Scoliosis, Cardiomegaly	OMIM:618143
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Congestive heart failu...	ORPHA:579
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,...	OMIM:619718
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiom...	OMIM:252500
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Micro Syndrome	Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Sco...	ORPHA:2510
Oeis Complex	Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Sacral segmentation defect, Hemi...	OMIM:258040
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Tangier Disease	Left ventricular hypertrophy, Hepatomegaly, Myocardial infarction, Splenomegaly	OMIM:205400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati...	ORPHA:264580
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Sialuria	Splenomegaly, Hepatomegaly, Hypoplastic nipples, Scoliosis	OMIM:269921
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Arrhythmia, Hepatic steatosis, Cardiomegaly	ORPHA:42
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect, Pulmonary arte...	OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Opsismodysplasia	Hypoplastic vertebral bodies, Hepatomegaly, Abnormally ossified vertebrae, Splenomegaly	ORPHA:2746
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ...	OMIM:278000
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt...	OMIM:612541
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Stickler Syndrome, Type I	Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr...	OMIM:108300
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Hypertension, Increased ...	OMIM:219080
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Hepatic steatosis, Cardiomegaly	OMIM:255120
Crisponi Syndrome	Sudden cardiac death, Kyphosis, Scoliosis	ORPHA:1545
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Thanatophoric Dysplasia Type 2	Atrial septal defect, Kyphosis, Platyspondyly	ORPHA:93274
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat...	ORPHA:582
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyphoscoliosis, Tric...	OMIM:253200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly	ORPHA:2463
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec...	OMIM:614921
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect	OMIM:617602
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Marinesco-Sjogren Syndrome	Kyphosis, Hypergonadotropic hypogonadism, Scoliosis	OMIM:248800
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Kyphosis, Scoliosis	ORPHA:464282
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Short...	OMIM:616894
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Abnormal sacroiliac joint morphology, Leukocytosis, Periton...	ORPHA:32960
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Camurati-Engelmann Disease	Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral col...	ORPHA:1328
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Spinal rigidity, Hyperlord...	OMIM:613327
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Thromb...	OMIM:259700
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothy...	OMIM:617713
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Micropenis, Scoliosis, Cryptorchidism	ORPHA:364028
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Kyphosis, Cry...	OMIM:619005
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Cervi...	OMIM:616368
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Type II diabetes melli...	ORPHA:2047
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve...	ORPHA:958
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure	ORPHA:90037
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog...	ORPHA:576
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Decreased t...	OMIM:201100
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Kyphosis, Ventricular septal defect	OMIM:619909
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:536516
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, ...	OMIM:610199
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp...	OMIM:610443
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia	OMIM:620296
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit...	ORPHA:79329
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy...	OMIM:300842
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Trisomy 20P	Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr...	ORPHA:261318
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
Okamoto Syndrome	Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum...	ORPHA:2729
Cohen Syndrome	Ventricular septal defect, Cryptorchidism, Kyphosis, Neutropenia, Mitral valve prolapse, Scoliosi...	ORPHA:193
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop...	OMIM:618419
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size	ORPHA:85293
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Peri...	OMIM:212065
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Hypertension, Oligomenorrhea, Bico...	OMIM:219090
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ...	OMIM:177850
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum lepti...	ORPHA:280365
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Achalasia, Scoliosis	ORPHA:79107
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en...	ORPHA:3042
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Abnormalit...	ORPHA:1775
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Kyphosis, Subdural hemorrhage, Scoliosis, Spina bifida occulta	OMIM:618291
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp...	ORPHA:2072
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ...	OMIM:613812
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Atrioventricular bl...	ORPHA:581
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility...	ORPHA:2616
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia	OMIM:608013
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Cryptorchidism	OMIM:619244
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Ventricular septal defect, Precoc...	OMIM:194190
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Aspartylglucosaminuria	Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Mitral regurgitation, Spondylolysi...	OMIM:208400
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Normochromic anemia, Cholecy...	OMIM:611881
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc...	OMIM:130650
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Short neck, Splenomegaly, Cryptorchidism...	OMIM:613563
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fert...	OMIM:269700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Kyphosis, Congestive heart failure, Irregular menstruation, Uterine leiomyo...	OMIM:616482
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:763
Myhre Syndrome	Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Cryptorchidism, Hy...	OMIM:139210
Aicardi-Goutières Syndrome	Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Chroni...	ORPHA:51
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Abnormal ...	ORPHA:565612
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Microvesicular hepatic steato...	OMIM:300855
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Prader-Willi Syndrome	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:176270
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S...	ORPHA:251014
Poland Syndrome	Diabetes mellitus, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae...	ORPHA:2911
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Vertebral fusion, Hepatomegaly, Hypoplasia of penis, Hypospadias, Atrial s...	ORPHA:373
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Microphthalmia, Lenz Type	Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis	ORPHA:568
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,...	ORPHA:1855
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Neoplasm of the thymus, Kyphosis, ...	ORPHA:744
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia	OMIM:139090
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen...	ORPHA:781
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem...	OMIM:274000
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen...	ORPHA:2137
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis	OMIM:259420
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Pla...	OMIM:245600
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Scoliosis	OMIM:612918
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept...	ORPHA:84064
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Short neck, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, A...	OMIM:614083
Atelis Syndrome 2	Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins...	OMIM:620185
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Kyphosis, Pulmonary arterial hypertension, Male urethral ...	ORPHA:464738
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility ...	OMIM:608594
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Posterior...	ORPHA:464311
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5t...	ORPHA:955
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Hypothyroidism, Cong...	ORPHA:14
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis	ORPHA:500055
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Atrial septal defect, Scoliosis	OMIM:617190
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Fused cervical vertebrae, Neutrophilia, Hepatomegaly	OMIM:612852
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis	OMIM:617061
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:618443
Thanatophoric Dysplasia Type 1	Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Abnormalit...	ORPHA:280
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Hypersplenism, Thrombocytop...	ORPHA:1304
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Wieacker-Wolff Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:314580
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Autosomal Recessive Robinow Syndrome	Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:1507
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification...	OMIM:203500
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Supernumerary nipple, Kyphosis, Mitral regurgitation, Hypogonadism, Scolios...	ORPHA:261349
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo...	ORPHA:99827
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Hyperlordosis, Vasculitis, Shortened PR in...	ORPHA:365
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Kyphosis, Abnormality of the s...	ORPHA:1606
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly	OMIM:619259
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis	ORPHA:171436
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Kyph...	ORPHA:464306
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,...	OMIM:619991
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Pericardial effusion, Kypho...	ORPHA:536532
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Lipid acc...	OMIM:608836
Mend Syndrome	Sacral dimple, Kyphosis, Cryptorchidism, Abnormal heart morphology, Aortic valve stenosis	ORPHA:401973
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly	OMIM:620306
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, Vasculitis, Lymphadenop...	ORPHA:342
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Tricuspid regurgitation, Spinal rigidity, Kyphosis, Bradycardia, Scoliosis	OMIM:620351
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Small scrotum, Scoliosis, Cryptorchidism	ORPHA:2215
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Lumbar hyperlordosis, Mitral stenosis, Ventricular...	OMIM:143095
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Scoliosis, Anterior beaking of lumbar vertebrae, Macroorchidism, Beak...	ORPHA:93
Phocomelia, Schinzel Type	Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the...	ORPHA:2879
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Unicornuat...	OMIM:614527
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Aplasia of the epiglottis, Atrioventricular canal d...	OMIM:617088
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo...	OMIM:265000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Coffin-Lowry Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal ao...	ORPHA:192
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Wieacker-Wolff Syndrome, Female-Restricted	Kyphosis, Scoliosis, Short neck	OMIM:301041
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst...	ORPHA:201
Zimmermann-Laband Syndrome 1	Hepatomegaly, Splenomegaly, Long penis, Cardiomyopathy, Scoliosis, Spina bifida occulta	OMIM:135500
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ...	ORPHA:140
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Junctional ectopic tachycard...	OMIM:309801
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr...	OMIM:153670
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Rett Syndrome	Kyphosis, Abnormal T-wave, Prolonged QTc interval, Scoliosis	OMIM:312750
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ...	OMIM:615688
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial...	ORPHA:363958
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Situs inversus t...	ORPHA:2461
Marshall-Smith Syndrome	Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas...	OMIM:602535
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Abnormal myocardi...	ORPHA:228308
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicula...	ORPHA:3063
Digeorge Syndrome	Pilonidal sinus, Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyro...	OMIM:188400
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Enlarged tons...	ORPHA:217085
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Sacral dimple, Hypospadias, Decreased response to growth hormone stimulatio...	ORPHA:268261
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Pu...	ORPHA:71493
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Scoliosis, Spinal rigidity	OMIM:254090
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calcitonin concentrati...	OMIM:162300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Carney Complex	Pituitary growth hormone cell adenoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cel...	ORPHA:1359
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea...	ORPHA:3464
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per...	OMIM:263200
Cockayne Syndrome A	Hepatomegaly, Splenomegaly, Kyphosis, Cryptorchidism, Irregular menstruation, Hypertension, Thymi...	OMIM:216400
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Lymphopenia, Rectovaginal fistula	OMIM:619708
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Vertebral compression fra...	OMIM:263700
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra...	OMIM:259770
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Kyphosis, Abnormal mitral valve morphology, Scoliosis	ORPHA:1969
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular...	OMIM:236680
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Precocious puberty,...	ORPHA:58
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal form of...	ORPHA:904
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Hypothyroidi...	ORPHA:116
Monosomy 9Q22.3	Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column	ORPHA:77301
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly	ORPHA:158687
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Short ne...	OMIM:249000
Mend Syndrome	Kyphosis, Sacral dimple, Aortic valve stenosis, Cryptorchidism	OMIM:300960
Multiple Myeloma	Splenomegaly, Vertebral compression fracture, Anemia, Lymphadenopathy	ORPHA:29073
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Scoliosis	ORPHA:457284
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Cervical kyphosis, Cerebral hemorrhage, Ky...	ORPHA:666
Cdags Syndrome	Kyphosis, Hypospadias, Rectovaginal fistula	OMIM:603116
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Satoyoshi Syndrome	Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro...	ORPHA:273
Spondyloarthropathy, Susceptibility To, 1	Back pain, Aortic regurgitation, Kyphosis, Sacroiliac arthritis, Arrhythmia	OMIM:106300
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Short neck, Ky...	ORPHA:818
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Congestive heart failure,...	OMIM:256040
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s...	ORPHA:800
Frank-Ter Haar Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr...	OMIM:249420
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Kyphosis, Intracranial hemorrhage,...	ORPHA:394
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology, Persistent cloaca	OMIM:615709
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Weaver Syndrome	Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism	OMIM:277590
Cockayne Syndrome B	Hepatomegaly, Splenomegaly, Kyphosis, Cryptorchidism, Hypertension, Arrhythmia, Micropenis	OMIM:133540
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte...	OMIM:201750
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body	OMIM:618476
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Lymphedema-Distichiasis Syndrome	Kyphosis, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Ramon Syndrome	Kyphosis, Enlarged labia minora, Scoliosis, Telangiectasia	OMIM:266270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Complete atrioventricular canal defect, Scoliosis	ORPHA:476126
Cockayne Syndrome Type 3	Hepatomegaly, Splenomegaly, Kyphosis, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, In...	ORPHA:90324
Coffin-Siris Syndrome 1	Sacral dimple, Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Tetralogy of Fal...	OMIM:135900
Jaberi-Elahi Syndrome	Kyphosis, Scoliosis	OMIM:617988
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Scoliosis	ORPHA:88628
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Hypertension, Mitral valve prolapse	OMIM:616914
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Short neck, Hepatic fibrosis, Atrial septal defect,...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Short neck, Hepatic fibrosis, Atrial septal defect,...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Short neck, Hepatic fibrosis, Atrial septal defect,...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Short neck, Hepatic fibrosis, Atrial septal defect,...	ORPHA:881
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Hypospadias	OMIM:609944
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Ehlers-Danlos Syndrome, Vascular Type	Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cystocele, Arte...	OMIM:130050
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Hypothyroidism, Scoliosis	ORPHA:2479
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Pan...	OMIM:276700
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega...	ORPHA:50918
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Kyphosis, Epispadias, Crypto...	ORPHA:2658
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Cholelithiasis, Annular pancreas	ORPHA:97297
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ...	ORPHA:3472
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Precocious puberty, Kyphosis, Renovascular hypertension, Glomus jugul...	ORPHA:97685
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis	OMIM:619194
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Neurofibromatosis Type 1	Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Precocious puberty, Chronic myelog...	ORPHA:636
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Hypospadias, Ventricular septal defect, Supernumerary nipple,...	OMIM:312870
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp...	ORPHA:731
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Short neck, Cryptorchidism, Transposition of the great a...	OMIM:256520
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:615866
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl...	OMIM:276820
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Scoliosis	OMIM:618493
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Biliary tract abnormality, ...	OMIM:137920
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Sco...	OMIM:617140
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard...	ORPHA:51608
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Familial Osteodysplasia, Anderson Type	Kyphosis, Hypertension, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Loeys-Dietz Syndrome	Cardiac arrest, Scoliosis, Uterine rupture	ORPHA:60030
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Po...	OMIM:243800
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t...	ORPHA:64
Cockayne Syndrome	Hepatomegaly, Diabetes mellitus, Splenomegaly, Kyphosis, Cryptorchidism, Retinal hemorrhage, Abse...	ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis	OMIM:300966
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl...	ORPHA:69085
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Biliary ci...	OMIM:613471
Peters Plus Syndrome	Sacral dimple, Hypospadias, Short neck, Cryptorchidism, Bicuspid pulmonary valve, Congenital hypo...	ORPHA:709
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Short nec...	OMIM:261540
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morphology, Auto...	ORPHA:77293
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bifid scrotum, Aortic regurgitation, Hypospadias, Bicuspid aortic valve, Ventricular s...	OMIM:619475
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Sinus bradycardia, Scoliosis, Achalasia, Ineffective esophageal peristalsis	OMIM:619482
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Kyphosis, Cryptorchidism, Anemia, Abnormal circulating calcium-phosphate reg...	ORPHA:534
Cerebrocostomandibular Syndrome	Kyphosis, Ventricular septal defect	ORPHA:1393
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	ORPHA:572333
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt...	OMIM:107480
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Wrinkly Skin Syndrome	Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Atrial septal dilatation	OMIM:278250
Norrie Disease	Diabetes mellitus, Cryptorchidism, Uterine rupture, Scoliosis, Delayed puberty, Erectile dysfunction	ORPHA:649
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Congenital hypothyroidism	OMIM:617527
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Hypospadias	ORPHA:85199
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Micropenis, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:457359
Sotos Syndrome	Sacrococcygeal teratoma, Hypospadias, Ventricular septal defect, Phimosis, Kyphosis, Cryptorchidi...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Scoliosis	OMIM:618050
Plaa-Associated Neurodevelopmental Disorder	Kyphosis	ORPHA:521426
Stickler Syndrome	Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl...	ORPHA:828
Coffin-Lowry Syndrome	Kyphosis, Lumbar kyphosis, Mitral regurgitation, Scoliosis, Uterine prolapse	OMIM:303600
Marfan Syndrome	Mitral valve calcification, Kyphosis, Congestive heart failure, Mitral valve prolapse, Scoliosis,...	ORPHA:558
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism	OMIM:309000
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Pallister-Killian Syndrome	Sacral dimple, Small scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Kypho...	OMIM:601803
Occipital Horn Syndrome	Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis	ORPHA:198
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ...	ORPHA:2273
Branchiooculofacial Syndrome	Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Duplicati...	OMIM:113620
Vascular Ehlers-Danlos Syndrome	Hypospadias, Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic atta...	ORPHA:286
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Orthostatic hypotension	OMIM:304150
Viss Syndrome	Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Patent fora...	OMIM:619472
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Ventricular septal defect, ...	OMIM:216340
Primrose Syndrome	Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Kyphosis, Cryptorchi...	OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Calb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Calb1.

No publications found that use IMPC mice or data for Calb1.

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

MGI Allele	Allele Type	Produced
Calb1^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice
Calb1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Calb1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Calb1 MGI:88248

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Human diseases caused by Calb1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data